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G |
Adgrg2 |
adhesion G protein-coupled receptor G2 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:38,106,067...38,231,286
Ensembl chr X:34,297,402...34,422,609
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G |
Bclaf3 |
BCLAF1 and THRAP3 family member 3 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:39,065,842...39,137,521
Ensembl chr X:35,263,576...35,328,816
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G |
Bend2 |
BEN domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:36,997,518...37,093,363
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G |
Cdkl5 |
cyclin-dependent kinase-like 5 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:33,757,605...33,988,075
Ensembl chr X:33,821,257...33,986,582
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G |
Eif1ax |
eukaryotic translation initiation factor 1A, X-linked |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:39,307,320...39,322,023
Ensembl chr X:35,498,517...35,513,335
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G |
Map3k15 |
mitogen-activated protein kinase kinase kinase 15 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:34,713,150...34,859,054
Ensembl chr X:34,713,175...34,858,807
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G |
Map7d2 |
MAP7 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:35,372,453...35,488,073
Ensembl chr X:35,372,700...35,488,091
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G |
Nhs |
NHS actin remodeling regulator |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:36,185,067...36,524,711
Ensembl chr X:32,552,026...32,889,992
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G |
Pdha1 |
pyruvate dehydrogenase E1 subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:38,509,158...38,522,986
Ensembl chr X:34,700,409...34,714,311
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G |
Phka2 |
phosphorylase kinase regulatory subunit alpha 2 |
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ISO IAGP |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 | ClinVar Annotator: match by term: Glycogen storage disease IXa2 | ClinVar Annotator: match by term: LIVER GLYCOGENOSIS, X-LINKED, TYPE I | ClinVar Annotator: match by term: PHKA2-related condition DNA:missense mutations:multiple DNA:mutations:multiple |
OMIM ClinVar RGD |
PMID:2303074 PMID:5306139 PMID:7711737 PMID:7847371 PMID:7959740 PMID:8733133 PMID:8733134 PMID:9536098 PMID:9600238 PMID:9835437 PMID:9870210 PMID:10330341 PMID:11286390 PMID:12862311 PMID:16199547 PMID:17304053 PMID:17576681 PMID:17689125 PMID:18076117 PMID:19763152 PMID:20307669 PMID:21634085 PMID:21646031 PMID:21857251 PMID:21911307 PMID:22406018 PMID:22899091 PMID:23578772 PMID:24055370 PMID:25070466 PMID:25266922 PMID:25315662 PMID:25741868 PMID:25741869 PMID:26157701 PMID:26944031 PMID:27103379 PMID:28085675 PMID:28116244 PMID:28283841 PMID:28468868 PMID:28492532 PMID:28600779 PMID:28627441 PMID:30659246 PMID:30945684 PMID:31248825 PMID:31508908 PMID:31987065 PMID:32244026 PMID:32387637 PMID:32772503 PMID:33763395 PMID:34093448 PMID:34117828 PMID:34277355 PMID:35854365 PMID:8733134 PMID:28627441 PMID:28283841 More...
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RGD:26884354, RGD:26884355, RGD:26884353 |
NCBI chr X:37,979,629...38,102,656
Ensembl chr X:34,171,323...34,293,466
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G |
Ppef1 |
protein phosphatase with EF-hand domain 1 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:33,994,503...34,151,704
Ensembl chr X:34,021,350...34,151,701
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G |
Rai2 |
retinoic acid induced 2 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:32,948,656...33,011,222
Ensembl chr X:32,948,656...33,011,264
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G |
Rps6ka3 |
ribosomal protein S6 kinase A3 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:39,325,926...39,432,017
Ensembl chr X:35,517,306...35,623,207
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G |
Rs1 |
retinoschisin 1 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:37,771,135...37,800,894
Ensembl chr X:33,963,657...33,992,115
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G |
Scml1 |
Scm polycomb group protein like 1 |
|
ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:32,893,100...32,912,686
Ensembl chr X:32,894,327...32,911,366
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G |
Scml2 |
Scm polycomb group protein like 2 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:33,523,179...33,677,672
Ensembl chr X:33,524,530...33,652,742
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G |
Sh3kbp1 |
SH3 domain-containing kinase-binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXa1 |
ClinVar |
PMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684 |
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NCBI chr X:38,686,530...39,031,658
Ensembl chr X:34,877,866...35,222,747
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G |
Abcc12 |
ATP binding cassette subfamily C member 12 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXb |
ClinVar |
PMID:28492532 |
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NCBI chr19:20,549,298...20,621,991
Ensembl chr19:20,549,405...20,620,734
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G |
C19h16orf87 |
similar to human chromosome 16 open reading frame 87 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXb |
ClinVar |
PMID:28492532 |
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NCBI chr19:21,626,390...21,653,869
Ensembl chr19:21,626,914...21,654,255
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G |
Dnaja2 |
DnaJ heat shock protein family (Hsp40) member A2 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXb |
ClinVar |
PMID:28492532 |
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NCBI chr19:21,497,792...21,516,904
Ensembl chr19:21,497,729...21,516,901
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G |
Gpt2 |
glutamic--pyruvic transaminase 2 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXb |
ClinVar |
PMID:28492532 |
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NCBI chr19:37,700,023...37,734,551
Ensembl chr19:21,517,621...21,560,610
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G |
Itfg1 |
integrin alpha FG-GAP repeat containing 1 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXb |
ClinVar |
PMID:28492532 |
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NCBI chr19:37,383,982...37,504,523
Ensembl chr19:21,210,733...21,331,279
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G |
Mylk3 |
myosin light chain kinase 3 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXb |
ClinVar |
PMID:28492532 |
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NCBI chr19:37,858,298...37,916,805
Ensembl chr19:21,691,929...21,742,954
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G |
Neto2 |
neuropilin and tolloid like 2 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXb |
ClinVar |
PMID:28492532 |
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NCBI chr19:37,517,518...37,588,961
Ensembl chr19:21,344,289...21,417,023
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G |
Orc6 |
origin recognition complex, subunit 6 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXb |
ClinVar |
PMID:28492532 |
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NCBI chr19:37,931,085...37,938,856
Ensembl chr19:21,757,866...21,765,662
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G |
Phkb |
phosphorylase kinase regulatory subunit beta |
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ISO ISS |
CTD Direct Evidence: marker/mechanism OMIM:261750 ClinVar Annotator: match by term: Glycogen storage disease IXb | ClinVar Annotator: match by term: PHKB-related condition | ClinVar Annotator: match by term: PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE |
OMIM CTD MouseDO ClinVar |
PMID:9215682 PMID:9326319 PMID:9402963 PMID:9536098 PMID:12825073 PMID:16199547 PMID:17576681 PMID:17689125 PMID:18950708 PMID:21646031 PMID:24082139 PMID:25070466 PMID:25266922 PMID:25640679 PMID:25741868 PMID:26526422 PMID:26913919 PMID:28146470 PMID:28492532 PMID:28870985 PMID:29503979 PMID:29970176 PMID:30919572 PMID:31214250 PMID:31508908 PMID:32505569 PMID:33782433 PMID:33858366 PMID:34093448 PMID:34136918 PMID:34732400 PMID:35038814 PMID:37510298 More...
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NCBI chr19:37,179,937...37,383,979
Ensembl chr19:21,025,733...21,210,633
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G |
Vps35 |
VPS35 retromer complex component |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXb |
ClinVar |
PMID:28492532 |
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NCBI chr19:37,938,989...37,974,887
Ensembl chr19:21,765,749...21,801,618
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G |
Phkg2 |
phosphorylase kinase catalytic subunit gamma 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: GSD IXc | ClinVar Annotator: match by term: Glycogen storage disease IXc | ClinVar Annotator: match by term: Glycogen storage disease type IXc |
OMIM CTD ClinVar |
PMID:2558039 PMID:6962066 PMID:7562285 PMID:8896567 PMID:9384616 PMID:9536098 PMID:10905889 PMID:12930917 PMID:16199547 PMID:17576681 PMID:17689125 PMID:21646031 PMID:22899091 PMID:24102521 PMID:24389071 PMID:25266922 PMID:25741868 PMID:27207549 PMID:28492532 PMID:29360628 PMID:31508908 PMID:32405178 PMID:32697758 PMID:34989216 PMID:35038814 PMID:35257483 PMID:35549678 PMID:35834487 More...
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NCBI chr 1:191,614,738...191,627,615
Ensembl chr 1:182,184,650...182,197,124
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G |
Phka1 |
phosphorylase kinase regulatory subunit alpha 1 |
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ISO ISS |
ClinVar Annotator: match by term: GSD IXd | ClinVar Annotator: match by term: Glycogen storage disease IXd | ClinVar Annotator: match by term: PHKA1-related condition CTD Direct Evidence: marker/mechanism OMIM:300559 |
OMIM ClinVar CTD MouseDO |
PMID:2252364 PMID:7874115 PMID:8145916 PMID:9536098 PMID:9731190 PMID:12825073 PMID:15637709 PMID:16199547 PMID:17576681 PMID:18401027 PMID:22238410 PMID:25640679 PMID:25741868 PMID:26242992 PMID:28492532 PMID:28600779 PMID:29667327 PMID:32528171 More...
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NCBI chr X:71,639,701...71,778,465
Ensembl chr X:67,601,302...67,738,455
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G |
Phka2 |
phosphorylase kinase regulatory subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Glycogen storage disease IXd |
ClinVar |
PMID:10330341 PMID:12862311 PMID:23578772 PMID:25741868 PMID:27103379 PMID:28492532 PMID:28627441 PMID:31508908 More...
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NCBI chr X:37,979,629...38,102,656
Ensembl chr X:34,171,323...34,293,466
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