|
G |
Pgap3 |
post-GPI attachment to proteins phospholipase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr10:86,343,058...86,356,146
Ensembl chr10:86,343,064...86,355,006
|
|
G |
Pigo |
phosphatidylinositol glycan anchor biosynthesis, class O |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with Intellectual Disability Syndrome ClinVar Annotator: match by term: Hyperphosphatasia-intellectual disability syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:24033266 PMID:25741868 PMID:28492532 PMID:28545593 |
|
NCBI chr 5:58,461,055...58,470,699
Ensembl chr 5:58,461,759...58,469,399
|
|
G |
Pigv |
phosphatidylinositol glycan anchor biosynthesis, class V |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with Intellectual Disability Syndrome CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hyperphosphatasia-intellectual disability syndrome |
ClinVar CTD |
PMID:1724113 PMID:20578257 PMID:20802478 PMID:21739589 PMID:22228761 PMID:22315194 PMID:24033266 PMID:24129430 PMID:25741868 |
|
NCBI chr 5:151,886,132...151,899,024
Ensembl chr 5:151,886,035...151,898,022
|
|
G |
Pigw |
phosphatidylinositol glycan anchor biosynthesis, class W |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr10:72,194,774...72,198,415
Ensembl chr10:72,194,929...72,196,437
|
|
G |
Pigy |
phosphatidylinositol glycan anchor biosynthesis, class Y |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chr 8:23,167,974...23,170,215
Ensembl chr 8:23,167,974...23,170,209
|
|
|
G |
Pigb |
phosphatidylinositol glycan anchor biosynthesis, class B |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 1 |
ClinVar |
PMID:25326635 PMID:25741868 PMID:31256876 |
|
NCBI chr 8:79,691,407...79,715,284
Ensembl chr 8:79,691,407...79,715,284
|
|
G |
Pigg |
phosphatidylinositol glycan anchor biosynthesis, class G |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 1 |
ClinVar |
PMID:25741868 PMID:26996948 PMID:28492532 |
|
NCBI chr14:2,410,339...2,438,630
Ensembl chr14:2,410,342...2,438,592
|
|
G |
Pigo |
phosphatidylinositol glycan anchor biosynthesis, class O |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:58,461,055...58,470,699
Ensembl chr 5:58,461,759...58,469,399
|
|
G |
Pigv |
phosphatidylinositol glycan anchor biosynthesis, class V |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 1 ClinVar Annotator: match by OMIM:239300 |
OMIM ClinVar |
PMID:1724113 PMID:17351347 PMID:20578257 PMID:20802478 PMID:21739589 PMID:22228761 PMID:22315194 PMID:24033266 PMID:24129430 PMID:24439110 PMID:25741868 PMID:26467025 PMID:27166760 PMID:28492532 |
|
NCBI chr 5:151,886,132...151,899,024
Ensembl chr 5:151,886,035...151,898,022
|
|
|
G |
Arhgef39 |
Rho guanine nucleotide exchange factor 39 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,998,209...59,001,779
Ensembl chr 5:58,995,249...59,001,800
|
|
G |
Arid3c |
AT-rich interaction domain 3C |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,107,182...58,114,632
Ensembl chr 5:58,107,707...58,113,553
|
|
G |
Ca9 |
carbonic anhydrase 9 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,008,277...59,015,535
Ensembl chr 5:59,008,933...59,015,528
|
|
G |
Ccdc107 |
coiled-coil domain containing 107 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,995,211...58,998,620
Ensembl chr 5:58,995,249...58,997,953
|
|
G |
Ccl19 |
C-C motif chemokine ligand 19 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,181,025...58,182,969
Ensembl chr 5:58,181,026...58,183,017
|
|
G |
Ccl21 |
C-C motif chemokine ligand 21 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,197,678...58,198,782
Ensembl chr 5:58,197,680...58,198,782
|
|
G |
Ccl27 |
C-C motif chemokine ligand 27 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,159,066...58,166,182
Ensembl chr 5:58,159,066...58,163,584
|
|
G |
Cd72 |
Cd72 molecule |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,943,021...58,950,373
Ensembl chr 5:58,943,027...58,950,373
|
|
G |
Cntfr |
ciliary neurotrophic factor receptor |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,041,114...58,078,687
Ensembl chr 5:58,041,146...58,078,545
|
|
G |
Creb3 |
cAMP responsive element binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,063,532...59,068,196
Ensembl chr 5:59,063,531...59,068,188
|
|
G |
Dctn3 |
dynactin subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,098,706...58,106,706
Ensembl chr 5:58,098,706...58,106,706
|
|
G |
Dnai1 |
dynein, axonemal, intermediate chain 1 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,947,796...58,017,985
Ensembl chr 5:57,947,716...58,017,992
|
|
G |
Dnajb5 |
DnaJ heat shock protein family (Hsp40) member B5 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,393,197...58,402,162
Ensembl chr 5:58,393,233...58,401,870
|
|
G |
Enho |
energy homeostasis associated |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,018,039...58,019,836
Ensembl chr 5:58,018,039...58,019,836
|
|
G |
Fam166b |
family with sequence similarity 166, member B |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,883,064...58,884,136
|
|
G |
Fam205a |
family with sequence similarity 205, member A |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,282,202...58,303,075
Ensembl chr 5:58,282,379...58,288,125
|
|
G |
Fam214b |
family with sequence similarity 214, member B |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,477,894...58,484,900
Ensembl chr 5:58,477,894...58,484,900
|
|
G |
Fancg |
FA complementation group G |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,448,060...58,456,416
Ensembl chr 5:58,448,822...58,455,819
|
|
G |
Galt |
galactose-1-phosphate uridylyltransferase |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,144,679...58,147,946
Ensembl chr 5:58,144,705...58,147,929
|
|
G |
Gba2 |
glucosylceramidase beta 2 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,068,081...59,079,719
Ensembl chr 5:59,068,081...59,079,719
|
|
G |
Il11ra1 |
interleukin 11 receptor subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,149,150...58,159,072
Ensembl chr 5:58,151,985...58,159,072
|
|
G |
LOC100360821 |
rCG55159-like |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,416,058...58,421,991
Ensembl chr 5:58,416,432...58,420,342
|
|
G |
Msmp |
microseminoprotein, prostate associated |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
Ensembl chr 5:59,084,626...59,085,676
|
|
G |
Npr2 |
natriuretic peptide receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,128,186...59,147,321
Ensembl chr 5:59,128,315...59,147,255
|
|
G |
Phf24 |
PHD finger protein 24 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,359,744...58,387,446
Ensembl chr 5:58,359,498...58,383,070
|
|
G |
Pigo |
phosphatidylinositol glycan anchor biosynthesis, class O |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 ClinVar Annotator: match by OMIM:614749 |
OMIM ClinVar |
PMID:22683086 PMID:24033266 PMID:24417746 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28545593 PMID:28900819 PMID:30109123 |
|
NCBI chr 5:58,461,055...58,470,699
Ensembl chr 5:58,461,759...58,469,399
|
|
G |
Rgp1 |
RGP1 homolog, RAB6A GEF complex partner 1 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,080,290...59,088,777
Ensembl chr 5:59,080,765...59,088,523
|
|
G |
Rpp25l |
ribonuclease P/MRP subunit p25 like |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,096,037...58,097,577
Ensembl chr 5:58,096,213...58,097,577
|
|
G |
Rusc2 |
RUN and SH3 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,860,444...58,883,152
Ensembl chr 5:58,855,773...58,882,096
|
|
G |
Sigmar1 |
sigma non-opioid intracellular receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,121,824...58,124,687
Ensembl chr 5:58,121,786...58,124,681
|
|
G |
Sit1 |
signaling threshold regulating transmembrane adaptor 1 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,985,912...58,987,538
Ensembl chr 5:58,985,829...58,987,760
|
|
G |
Spag8 |
sperm associated antigen 8 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,147,412...59,149,625
Ensembl chr 5:59,147,337...59,149,699
|
|
G |
Stoml2 |
stomatin like 2 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,472,561...58,476,158
Ensembl chr 5:58,472,550...58,476,251
|
|
G |
Tesk1 |
testis associated actin remodelling kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,937,615...58,943,358
Ensembl chr 5:58,937,615...58,943,358
|
|
G |
Tln1 |
talin 1 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,033,635...59,063,592
Ensembl chr 5:59,033,636...59,063,592
|
|
G |
Tpm2 |
tropomyosin 2 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631
|
|
G |
Unc13b |
unc-13 homolog B |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,505,449...58,714,396
Ensembl chr 5:58,505,500...58,715,576
|
|
G |
Vcp |
valosin-containing protein |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
|
|
|
G |
Pgap2 |
post-GPI attachment to proteins 2 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 3 ClinVar Annotator: match by OMIM:614207 |
OMIM ClinVar |
PMID:21629298 PMID:21643797 PMID:23561846 PMID:23561847 PMID:25741868 PMID:25741869 |
|
NCBI chr 1:167,309,021...167,335,550
Ensembl chr 1:167,309,051...167,334,741
|
|
|
G |
Pgap3 |
post-GPI attachment to proteins phospholipase 3 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 4 ClinVar Annotator: match by OMIM:615716 |
OMIM ClinVar |
PMID:22315194 PMID:24439110 PMID:25741868 PMID:27120253 PMID:28390064 PMID:29620724 PMID:30217754 PMID:30345601 PMID:32860008 |
|
NCBI chr10:86,343,058...86,356,146
Ensembl chr10:86,343,064...86,355,006
|
|
|
G |
Aatf |
apoptosis antagonizing transcription factor |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:71,744,648...71,837,851
Ensembl chr10:71,744,659...71,837,851
|
|
G |
Acaca |
acetyl-CoA carboxylase alpha |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:71,519,392...71,719,910
Ensembl chr10:71,536,533...71,719,910
|
|
G |
Dhrs11 |
dehydrogenase/reductase 11 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:72,144,042...72,153,496
Ensembl chr10:72,144,042...72,153,375
|
|
G |
Ggnbp2 |
gametogenetin binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:72,156,729...72,188,834
Ensembl chr10:72,156,728...72,188,308
|
|
G |
Lhx1 |
LIM homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:71,843,991...71,849,293
Ensembl chr10:71,843,991...71,849,293
|
|
G |
Mrm1 |
mitochondrial rRNA methyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:72,136,241...72,143,075
Ensembl chr10:72,136,246...72,142,533
|
|
G |
Myo19 |
myosin XIX |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 |
ClinVar |
PMID:28492532 |
|
NCBI chr10:72,198,475...72,227,892
Ensembl chr10:72,197,977...72,227,462
|
|
G |
Pigw |
phosphatidylinositol glycan anchor biosynthesis, class W |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 5 |
ClinVar OMIM |
PMID:24367057 PMID:25741868 PMID:27626616 PMID:28492532 |
|
NCBI chr10:72,194,774...72,198,415
Ensembl chr10:72,194,929...72,196,437
|
|
|
G |
Pigy |
phosphatidylinositol glycan anchor biosynthesis, class Y |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 6 |
ClinVar OMIM |
PMID:26293662 |
|
NCBI chr 8:23,167,974...23,170,215
Ensembl chr 8:23,167,974...23,170,209
|
|
G |
Pyurf |
PIGY upstream reading frame |
|
ISO |
ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 6 |
ClinVar |
PMID:26293662 |
|
NCBI chr 4:88,584,242...88,587,877
Ensembl chr 4:88,584,242...88,587,877
|
|