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

ONTOLOGY REPORT - ANNOTATIONS


Term:Marfanoid Mental Retardation Syndrome, Autosomal
go back to main search page
Accession:DOID:9006754 term browser browse the term
Synonyms:exact_synonym: marfanoid habitus and intellectual disability
 primary_id: MESH:C565410
 alt_id: OMIM:248770
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Marfanoid Mental Retardation Syndrome, Autosomal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AMFR autocrine motility factor receptor JBrowse link 6 29,366,812 29,417,800 RGD:9068941
G APOB apolipoprotein B JBrowse link 3 117,250,096 117,316,200 RGD:9068941
G ARID1A AT-rich interaction domain 1A JBrowse link 6 84,049,729 84,124,302 RGD:9068941
G ARID1B AT-rich interaction domain 1B JBrowse link 1 9,791,627 10,227,381 RGD:9068941
G ASXL3 ASXL transcriptional regulator 3 JBrowse link 6 117,334,177 117,518,589 RGD:9068941
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 JBrowse link 4 104,353,506 104,384,321 RGD:9068941
G ATXN2L ataxin 2 like JBrowse link 3 18,506,082 18,519,060 RGD:9068941
G B3GLCT beta 3-glucosyltransferase JBrowse link 11 7,792,160 7,907,052 RGD:9068941
G B4GALT7 beta-1,4-galactosyltransferase 7 JBrowse link 2 80,349,732 80,359,878 RGD:9068941
G BCL11A BAF chromatin remodeling complex subunit BCL11A JBrowse link 3 81,195,217 81,296,165 RGD:9068941
G BEGAIN brain enriched guanylate kinase associated JBrowse link 7 121,389,554 121,434,420 RGD:9068941
G CDH5 cadherin 5 JBrowse link 6 27,108,560 27,142,145 RGD:9068941
G CDHR2 cadherin related family member 2 JBrowse link 2 81,319,179 81,361,598 RGD:9068941
G CDK13 cyclin dependent kinase 13 JBrowse link 18 54,310,311 54,430,060 RGD:9068941
G CERS2 ceramide synthase 2 JBrowse link 4 98,250,773 98,260,504 RGD:9068941
G CHD3 chromodomain helicase DNA binding protein 3 JBrowse link 12 53,135,767 53,163,244 RGD:9068941
G CHD8 chromodomain helicase DNA binding protein 8 JBrowse link 7 77,719,476 77,780,148 RGD:9068941
G CIC capicua transcriptional repressor JBrowse link 6 49,638,986 49,664,146 RGD:9068941
G CIT citron rho-interacting serine/threonine kinase JBrowse link 14 33,009,828 33,195,985 RGD:9068941
G CLDN11 claudin 11 JBrowse link 13 109,075,672 109,089,097 RGD:9068941
G CNP 2',3'-cyclic nucleotide 3' phosphodiesterase JBrowse link 12 20,758,081 20,765,655 RGD:9068941
G COL6A3 collagen type VI alpha 3 chain JBrowse link 15 137,011,549 137,103,687 RGD:9068941
G CREBBP CREB binding protein JBrowse link 3 38,388,366 38,530,243 RGD:9068941
G DBN1 drebrin 1 JBrowse link 2 80,480,603 80,495,797 RGD:9068941
G DDX3X DEAD-box helicase 3 X-linked JBrowse link X 36,988,031 37,005,496 RGD:9068941
G DDX41 DEAD-box helicase 41 JBrowse link 2 80,433,065 80,445,484 RGD:9068941
G DKK3 dickkopf WNT signaling pathway inhibitor 3 JBrowse link 2 47,385,244 47,444,664 RGD:9068941
G DLG4 discs large MAGUK scaffold protein 4 JBrowse link 12 52,550,138 52,574,021 RGD:9068941
G DOK3 docking protein 3 JBrowse link 2 80,440,774 80,445,484 RGD:9068941
G DSCAML1 DS cell adhesion molecule like 1 JBrowse link 9 44,785,142 45,153,256 RGD:9068941
G DSP desmoplakin JBrowse link 7 4,862,649 4,915,626 RGD:9068941
G EHMT1 euchromatic histone lysine methyltransferase 1 RGD:9068941
G EIF4E1B eukaryotic translation initiation factor 4E family member 1B JBrowse link 2 81,277,086 81,281,668 RGD:9068941
G EMILIN3 elastin microfibril interfacer 3 JBrowse link 17 44,006,838 44,013,501 RGD:9068941
G F12 coagulation factor XII JBrowse link 2 80,527,451 80,544,835 RGD:9068941
G FAF2 Fas associated factor family member 2 JBrowse link 2 81,401,852 81,454,272 RGD:9068941
G FAM193B family with sequence similarity 193 member B JBrowse link 2 80,396,371 80,430,074 RGD:9068941
G FAM83H family with sequence similarity 83 member H JBrowse link 4 887,472 907,523 RGD:9068941
G FBN2 fibrillin 2 JBrowse link 2 131,150,665 131,370,241 RGD:9068941
G FBXO11 F-box protein 11 JBrowse link 3 92,696,402 92,792,623 RGD:9068941
G FGFR4 fibroblast growth factor receptor 4 JBrowse link 2 80,841,536 80,853,791 RGD:9068941
G FKBP8 FKBP prolyl isomerase 8 JBrowse link 2 59,256,546 59,267,171 RGD:9068941
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 JBrowse link 16 61,656,583 61,723,428 RGD:9068941
G GLT8D2 glycosyltransferase 8 domain containing 2 JBrowse link 5 80,409,915 80,473,964 RGD:9068941
G GPRIN1 G protein regulated inducer of neurite outgrowth 1 JBrowse link 2 81,307,732 81,319,183 RGD:9068941
G GRK6 G protein-coupled receptor kinase 6 JBrowse link 2 80,496,105 80,527,208 RGD:9068941
G HDLBP high density lipoprotein binding protein JBrowse link 15 139,957,703 140,025,336 RGD:9068941
G HK3 hexokinase 3 JBrowse link 2 81,042,401 81,060,832 RGD:9068941
G KCNB1 potassium voltage-gated channel subfamily B member 1 JBrowse link 17 51,032,163 51,152,566 RGD:9068941
G LMAN2 lectin, mannose binding 2 JBrowse link 2 80,595,064 80,636,168 RGD:9068941
G LOC100515171 sodium channel protein type 2 subunit alpha JBrowse link 15 71,864,753 71,999,219 RGD:9068941
G MED13L mediator complex subunit 13L JBrowse link 14 36,061,834 36,384,567 RGD:9068941
G METTL11B methyltransferase like 11B JBrowse link 4 80,854,850 80,932,412 RGD:9068941
G MTREX Mtr4 exosome RNA helicase JBrowse link 16 34,478,227 34,605,508 RGD:9068941
G MXD3 MAX dimerization protein 3 JBrowse link 2 80,636,778 80,641,346 RGD:9068941
G NEU3 neuraminidase 3 JBrowse link 9 9,315,263 9,333,878 RGD:9068941
G NF2 neurofibromin 2 JBrowse link 14 46,653,869 46,726,421 RGD:9068941
G NFIB nuclear factor I B JBrowse link 1 208,182,397 208,427,504 RGD:9068941
G NFIX nuclear factor I X JBrowse link 2 65,954,808 66,056,591 RGD:9068941
G NSD1 nuclear receptor binding SET domain protein 1 JBrowse link 2 80,649,882 80,810,934 RGD:9068941
G NUP205 nucleoporin 205 JBrowse link 18 13,674,301 13,777,773 RGD:9068941
G PAH phenylalanine hydroxylase JBrowse link 5 81,385,401 81,460,569 RGD:9068941
G PDLIM7 PDZ and LIM domain 7 JBrowse link 2 80,453,013 80,472,660 RGD:9068941
G PFN3 profilin 3 JBrowse link 2 80,545,495 80,546,524 RGD:9068941
G PICALM phosphatidylinositol binding clathrin assembly protein JBrowse link 9 19,835,934 19,947,239 RGD:9068941
G PKD1L2 polycystin 1 like 2 JBrowse link 6 7,065,143 7,166,620 RGD:9068941
G PNPLA6 patatin like phospholipase domain containing 6 JBrowse link 2 71,577,165 71,602,756 RGD:9068941
G PRELID1 PRELI domain containing 1 JBrowse link 2 80,641,844 80,646,390 RGD:9068941
G PRR7 proline rich 7, synaptic JBrowse link 2 80,496,105 80,508,825 RGD:9068941
G RAB24 RAB24, member RAS oncogene family JBrowse link 2 80,646,426 80,651,498 RGD:9068941
G RALGAPB Ral GTPase activating protein non-catalytic subunit beta JBrowse link 17 41,507,756 41,606,903 RGD:9068941
G RANBP10 RAN binding protein 10 JBrowse link 6 28,352,001 28,428,383 RGD:9068941
G RGS14 regulator of G protein signaling 14 JBrowse link 2 80,574,411 80,589,998 RGD:9068941
G RNF44 ring finger protein 44 JBrowse link 2 81,372,427 81,390,232 RGD:9068941
G SATB1 SATB homeobox 1 JBrowse link 13 5,315,985 5,410,686 RGD:9068941
G SIDT1 SID1 transmembrane family member 1 JBrowse link 13 146,300,172 146,396,552 RGD:9068941
G SLC34A1 solute carrier family 34 member 1 JBrowse link 2 80,548,208 80,563,380 RGD:9068941
G SLC6A1 solute carrier family 6 member 1 JBrowse link 13 67,156,786 67,199,092 RGD:9068941
G SNCB synuclein beta JBrowse link 2 81,287,764 81,302,859 RGD:9068941
G SPAG9 sperm associated antigen 9 JBrowse link 12 27,225,377 27,370,337 RGD:9068941
G STK11 serine/threonine kinase 11 JBrowse link 2 77,229,888 77,249,322 RGD:9068941
G SYNGAP1 synaptic Ras GTPase activating protein 1 JBrowse link 7 29,723,745 29,752,351 RGD:9068941
G TAF1 TATA-box binding protein associated factor 1 JBrowse link X 57,382,211 57,466,700 RGD:9068941
G TAPBPL TAP binding protein like JBrowse link 5 64,188,184 64,197,033 RGD:9068941
G TBR1 T-box brain transcription factor 1 JBrowse link 15 68,208,884 68,222,993 RGD:9068941
G TMED9 transmembrane p24 trafficking protein 9 JBrowse link 2 80,364,532 80,368,434 RGD:9068941
G TPCN2 two pore segment channel 2 JBrowse link 2 4,069,267 4,105,065 RGD:9068941
G TSPAN17 tetraspanin 17 JBrowse link 2 81,256,989 81,276,638 RGD:9068941
G UIMC1 ubiquitin interaction motif containing 1 JBrowse link 2 80,895,631 81,040,712 RGD:9068941
G UNC5A unc-5 netrin receptor A JBrowse link 2 81,061,096 81,126,191 RGD:9068941
G WSCD2 WSC domain containing 2 JBrowse link 14 42,482,923 42,584,388 RGD:9068941
G ZBTB18 zinc finger and BTB domain containing 18 JBrowse link 10 16,913,022 16,921,722 RGD:9068941
G ZBTB20 zinc finger and BTB domain containing 20 JBrowse link 13 144,855,821 145,668,320 RGD:9068941
G ZBTB46 zinc finger and BTB domain containing 46 JBrowse link 17 62,659,779 62,715,221 RGD:9068941
G ZEB2 zinc finger E-box binding homeobox 2 JBrowse link 15 7,498,879 7,631,347 RGD:9068941
G ZNF346 zinc finger protein 346 JBrowse link 2 80,871,576 80,895,592 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12552
    syndrome 5521
      Marfan syndrome 204
        Marfanoid Mental Retardation Syndrome, Autosomal 96
Path 2
Term Annotations click to browse term
  disease 12552
    disease of anatomical entity 12087
      nervous system disease 9811
        central nervous system disease 8231
          brain disease 7565
            disease of mental health 5440
              developmental disorder of mental health 2843
                specific developmental disorder 2043
                  intellectual disability 1917
                    Marfanoid Mental Retardation Syndrome, Autosomal 96
paths to the root

NHLBI Logo

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