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G |
Alas2 |
5'-aminolevulinate synthase 2 |
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ISO |
ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome |
ClinVar |
PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 PMID:31334757 PMID:31602316 More...
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NCBI chr X:19,463,146...19,486,526
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G |
Apex2 |
apurinic/apyrimidinic endodeoxyribonuclease 2 |
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ISO |
ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome |
ClinVar |
PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 PMID:31334757 PMID:31602316 More...
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NCBI chr X:22,914,943...22,937,713
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G |
Fam120c |
family with sequence similarity 120 member C |
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ISO |
ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome |
ClinVar |
PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 PMID:31334757 PMID:31602316 More...
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NCBI chr X:20,324,046...20,477,831
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G |
Fgd1 |
FYVE, RhoGEF and PH domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome |
ClinVar |
PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 PMID:31334757 PMID:31602316 More...
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NCBI chr X:20,023,746...20,066,734
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G |
Gnl3l |
G protein nucleolar 3 like |
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ISO |
ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome |
ClinVar |
PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 PMID:31334757 PMID:31602316 More...
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NCBI chr X:19,961,277...19,994,454
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G |
Hsd17b10 |
hydroxysteroid (17-beta) dehydrogenase 10 |
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ISO |
ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome |
ClinVar |
PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 PMID:31334757 PMID:31602316 More...
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NCBI chr X:21,089,142...21,091,603
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G |
Huwe1 |
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 |
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ISO |
ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome |
ClinVar |
PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 PMID:31334757 PMID:31602316 More...
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NCBI chr X:24,350,708...24,480,798
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G |
Iqsec2 |
IQ motif and Sec7 domain ArfGEF 2 |
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ISO |
ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome | ClinVar Annotator: match by term: Cornelia de Lange syndrome 2 |
ClinVar |
PMID:19052029 PMID:23683030 PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 PMID:31334757 PMID:31602316 More...
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NCBI chr X:21,254,799...21,337,179
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G |
Itih6 |
inter-alpha-trypsin inhibitor heavy chain family member 6 |
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ISO |
ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome |
ClinVar |
PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 PMID:31334757 PMID:31602316 More...
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NCBI chr X:19,753,322...19,790,381
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G |
Kdm5c |
lysine demethylase 5C |
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ISO |
ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome |
ClinVar |
PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 PMID:31334757 PMID:31602316 More...
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NCBI chr X:21,345,459...21,387,045
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G |
LOC120099525 |
small nucleolar RNA SNORA11 |
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ISO |
ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome |
ClinVar |
PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 PMID:31334757 PMID:31602316 More...
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NCBI chr X:19,735,030...19,735,144
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G |
Maged2 |
MAGE family member D2 |
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ISO |
ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome |
ClinVar |
PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 PMID:31334757 PMID:31602316 More...
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NCBI chr X:19,733,593...19,741,769
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G |
Mir98 |
microRNA 98 |
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ISO |
ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome |
ClinVar |
PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 PMID:31334757 PMID:31602316 More...
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NCBI chr X:20,981,235...20,981,342
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G |
Mirlet7f2 |
microRNA let-7f-2 |
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ISO |
ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome |
ClinVar |
PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 PMID:31334757 PMID:31602316 More...
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NCBI chr X:20,980,632...20,980,714
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G |
Pfkfb1 |
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 |
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ISO |
ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome |
ClinVar |
PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 PMID:31334757 PMID:31602316 More...
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NCBI chr X:22,936,038...22,989,691
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G |
Phf8 |
PHD finger protein 8 |
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ISO |
ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome |
ClinVar |
PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 PMID:31334757 PMID:31602316 More...
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NCBI chr X:20,524,103...20,623,459
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G |
Ribc1 |
RIB43A domain with coiled-coils 1 |
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ISO |
ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome |
ClinVar |
PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 PMID:31334757 PMID:31602316 More...
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NCBI chr X:21,091,717...21,103,688
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G |
Smc1a |
structural maintenance of chromosomes 1A |
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ISO |
ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome | ClinVar Annotator: match by term: Cornelia de Lange Syndrome 2 | ClinVar Annotator: match by term: Cornelia de Lange syndrome 2 | ClinVar Annotator: match by term: SMC1A-related cohesinopathy |
OMIM ClinVar |
PMID:9536098 PMID:11532960 PMID:11877377 PMID:16199547 PMID:16273072 PMID:16604071 PMID:17221863 PMID:17273969 PMID:17576681 PMID:18414213 PMID:18996922 PMID:19052029 PMID:19701948 PMID:19842212 PMID:20358602 PMID:20514443 PMID:20635401 PMID:22106055 PMID:22140011 PMID:23551878 PMID:23683030 PMID:24088041 PMID:24124034 PMID:24220272 PMID:24335498 PMID:24461912 PMID:24487413 PMID:24756084 PMID:24904756 PMID:25006131 PMID:25125236 PMID:25326635 PMID:25356970 PMID:25574841 PMID:25741868 PMID:26354354 PMID:26358754 PMID:26386245 PMID:26467025 PMID:26633545 PMID:26752331 PMID:27159028 PMID:27171548 PMID:27288520 PMID:27334371 PMID:28166369 PMID:28425213 PMID:28492532 PMID:28548707 PMID:28826797 PMID:28924389 PMID:29860495 PMID:30008475 PMID:30158690 PMID:30847515 PMID:30871455 PMID:31098032 PMID:31157197 PMID:31334757 PMID:31602316 PMID:31785789 PMID:31896782 PMID:32238909 PMID:33584783 PMID:33619735 PMID:37673932 More...
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NCBI chr X:24,582,732...24,627,462
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G |
Tro |
trophinin |
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ISO |
ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome |
ClinVar |
PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 PMID:31334757 PMID:31602316 More...
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NCBI chr X:19,563,395...19,574,507
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G |
Tsr2 |
TSR2, ribosome maturation factor |
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ISO |
ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome |
ClinVar |
PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 PMID:31334757 PMID:31602316 More...
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NCBI chr X:20,064,102...20,072,673
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G |
Wnk3 |
WNK lysine deficient protein kinase 3 |
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ISO |
ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome |
ClinVar |
PMID:26386245 PMID:27334371 PMID:28166369 PMID:28492532 PMID:28548707 PMID:31334757 PMID:31602316 More...
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NCBI chr X:23,599,278...23,742,290
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