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ONTOLOGY REPORT - ANNOTATIONS


Term:Hyperphosphatasia with Mental Retardation Syndrome 2
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Accession:DOID:9003727 term browser browse the term
Synonyms:exact_synonym: HPMRS2
 primary_id: OMIM:614749
 alt_id: RDO:9000461
For additional species annotation, visit the Alliance of Genome Resources.


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Hyperphosphatasia with Mental Retardation Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARHGEF39 Rho guanine nucleotide exchange factor 39 JBrowse link 9 35,658,875 35,665,205 RGD:8554872
G ARID3C AT-rich interaction domain 3C JBrowse link 9 34,621,049 34,633,112 RGD:8554872
G C9orf131 chromosome 9 open reading frame 131 JBrowse link 9 35,041,095 35,045,991 RGD:8554872
G CA9 carbonic anhydrase 9 JBrowse link 9 35,673,809 35,681,159 RGD:8554872
G CCDC107 coiled-coil domain containing 107 JBrowse link 9 35,658,290 35,661,511 RGD:8554872
G CCL19 C-C motif chemokine ligand 19 JBrowse link 9 34,689,570 34,691,276 RGD:8554872
G CCL21 C-C motif chemokine ligand 21 JBrowse link 9 34,709,005 34,710,136 RGD:8554872
G CCL27 C-C motif chemokine ligand 27 JBrowse link 9 34,661,890 34,662,657 RGD:8554872
G CD72 CD72 molecule JBrowse link 9 35,609,981 35,618,427 RGD:8554872
G CNTFR ciliary neurotrophic factor receptor JBrowse link 9 34,551,432 34,590,386 RGD:8554872
G CREB3 cAMP responsive element binding protein 3 JBrowse link 9 35,732,666 35,736,999 RGD:8554872
G DCTN3 dynactin subunit 3 JBrowse link 9 34,613,545 34,620,523 RGD:8554872
G DNAI1 dynein axonemal intermediate chain 1 JBrowse link 9 34,458,752 34,520,989 RGD:8554872
G DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 JBrowse link 9 34,989,369 34,998,900 RGD:8554872
G ENHO energy homeostasis associated JBrowse link 9 34,521,043 34,522,990 RGD:8554872
G FAM166B family with sequence similarity 166 member B JBrowse link 9 35,561,830 35,563,878 RGD:8554872
G FAM205A family with sequence similarity 205 member A JBrowse link 9 34,723,053 34,729,488 RGD:8554872
G FAM214B family with sequence similarity 214 member B JBrowse link 9 35,104,117 35,116,341 RGD:8554872
G FANCG FA complementation group G JBrowse link 9 35,073,839 35,079,942 RGD:8554872
G GALT galactose-1-phosphate uridylyltransferase JBrowse link 9 34,646,589 34,651,035 RGD:8554872
G GBA2 glucosylceramidase beta 2 JBrowse link 9 35,736,862 35,749,228 RGD:8554872
G IL11RA interleukin 11 receptor subunit alpha JBrowse link 9 34,652,185 34,661,902 RGD:8554872
G MSMP microseminoprotein, prostate associated JBrowse link 9 35,752,990 35,754,276 RGD:8554872
G NPR2 natriuretic peptide receptor 2 JBrowse link 9 35,782,086 35,809,731 RGD:8554872
G PHF24 PHD finger protein 24 JBrowse link 9 34,810,040 34,982,544 RGD:8554872
G PIGO phosphatidylinositol glycan anchor biosynthesis class O JBrowse link 9 35,085,496 35,096,601 RGD:8554872
RGD:7240710
G RGP1 RGP1 homolog, RAB6A GEF complex partner 1 JBrowse link 9 35,749,287 35,758,585 RGD:8554872
G RMRP RNA component of mitochondrial RNA processing endoribonuclease JBrowse link 9 35,657,751 35,658,018 RGD:8554872
G RPP25L ribonuclease P/MRP subunit p25 like JBrowse link 9 34,610,495 34,612,097 RGD:8554872
G RUSC2 RUN and SH3 domain containing 2 JBrowse link 9 35,490,111 35,561,898 RGD:8554872
G SIGMAR1 sigma non-opioid intracellular receptor 1 JBrowse link 9 34,634,722 34,637,826 RGD:8554872
G SIT1 signaling threshold regulating transmembrane adaptor 1 JBrowse link 9 35,649,295 35,650,931 RGD:8554872
G SPAG8 sperm associated antigen 8 JBrowse link 9 35,807,785 35,812,272 RGD:8554872
G STOML2 stomatin like 2 JBrowse link 9 35,099,776 35,103,195 RGD:8554872
G TESK1 testis associated actin remodelling kinase 1 JBrowse link 9 35,605,262 35,610,033 RGD:8554872
G TLN1 talin 1 JBrowse link 9 35,696,948 35,732,195 RGD:8554872
G TPM2 tropomyosin 2 JBrowse link 9 35,681,993 35,690,056 RGD:8554872
G UNC13B unc-13 homolog B JBrowse link 9 35,162,009 35,405,338 RGD:8554872
G VCP valosin containing protein JBrowse link 9 35,056,064 35,072,668 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16528
    Developmental Diseases 10368
      Neurodevelopmental Disorders 5368
        intellectual disability 2132
          Hyperphosphatasia with Mental Retardation 54
            Hyperphosphatasia with Mental Retardation Syndrome 2 39
Path 2
Term Annotations click to browse term
  disease 16528
    disease of anatomical entity 15507
      nervous system disease 11780
        central nervous system disease 9925
          brain disease 9206
            disease of mental health 7017
              developmental disorder of mental health 3877
                specific developmental disorder 2291
                  intellectual disability 2132
                    Hyperphosphatasia with Mental Retardation 54
                      Hyperphosphatasia with Mental Retardation Syndrome 2 39
paths to the root

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