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G |
ACR |
acrosin |
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ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:30,127...36,005
Ensembl chr 5:30,127...36,005
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G |
ADM2 |
adrenomedullin 2 |
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ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:254,397...255,478
Ensembl chr 5:253,396...255,601
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G |
ALG12 |
ALG12 alpha-1,6-mannosyltransferase |
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ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:716,928...727,239
Ensembl chr 5:717,028...729,397
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G |
ARHGAP8 |
Rho GTPase activating protein 8 |
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ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:4,399,874...4,450,505
Ensembl chr 5:4,399,744...4,450,465
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G |
ARSA |
arylsulfatase A |
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ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:107,103...110,330
Ensembl chr 5:107,149...111,518
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G |
ATXN10 |
ataxin 10 |
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ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:3,637,794...3,798,204
Ensembl chr 5:3,637,111...3,798,201
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G |
BRD1 |
bromodomain containing 1 |
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ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:774,307...808,016
Ensembl chr 5:770,654...808,006
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G |
CDPF1 |
cysteine rich DPF motif domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:3,287,043...3,295,842
Ensembl chr 5:3,292,022...3,296,307
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G |
CERK |
ceramide kinase |
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ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:2,818,738...2,870,200
Ensembl chr 5:2,818,784...2,870,195
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G |
CHKB |
choline kinase beta |
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ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:151,638...155,176
Ensembl chr 5:151,638...155,176
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G |
CIMAP1B |
ciliary microtubule associated protein 1B |
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ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:215,972...217,973
Ensembl chr 5:215,967...217,974
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G |
COL4A5 |
collagen type IV alpha 5 chain |
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ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr X:88,958,837...89,183,306
Ensembl chr X:88,958,849...89,183,372
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G |
CPT1B |
carnitine palmitoyltransferase 1B |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:155,552...163,536
Ensembl chr 5:155,643...163,531
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G |
CRELD2 |
cysteine rich with EGF like domains 2 |
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ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:709,042...716,766
Ensembl chr 5:709,045...716,771
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G |
DENND6B |
DENN domain containing 6B |
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ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:376,556...389,334
Ensembl chr 5:376,551...389,330
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G |
EFCAB6 |
EF-hand calcium binding domain 6 |
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ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:5,166,994...5,408,130
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G |
FAM118A |
family with sequence similarity 118 member A |
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ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:4,065,393...4,102,584
Ensembl chr 5:4,070,701...4,101,287
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G |
FBLN1 |
fibulin 1 |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:3,839,498...3,927,178
Ensembl chr 5:3,839,502...3,927,183
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G |
GRAMD4 |
GRAM domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:2,873,466...2,947,804
Ensembl chr 5:2,873,428...2,947,785
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G |
GTSE1 |
G2 and S-phase expressed 1 |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:3,227,813...3,246,679
Ensembl chr 5:3,227,816...3,242,789
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G |
HDAC10 |
histone deacetylase 10 |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:439,142...445,337
Ensembl chr 5:439,808...445,334
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G |
IL17REL |
interleukin 17 receptor E like |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:645,882...662,552
Ensembl chr 5:646,879...664,018
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G |
INS |
insulin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:18948358 |
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NCBI chr 2:1,496,842...1,498,052
Ensembl chr 2:1,496,842...1,497,841
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G |
KIAA0930 |
KIAA0930 |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:4,152,371...4,198,372
Ensembl chr 5:4,152,128...4,195,613
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G |
KLHDC7B |
kelch domain containing 7B |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:202,137...203,951
Ensembl chr 5:202,137...203,951
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G |
LMF2 |
lipase maturation factor 2 |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:233,601...238,266
Ensembl chr 5:233,401...238,266
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G |
LOC102159820 |
cadherin EGF LAG seven-pass G-type receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:3,114,410...3,203,378
Ensembl chr 5:2,980,351...3,203,381
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G |
LOC110260809 |
rab-like protein 2A |
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ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:104,510,606...104,525,994
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G |
MAPK11 |
mitogen-activated protein kinase 11 |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:420,848...428,103
Ensembl chr 5:421,798...428,101
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G |
MAPK12 |
mitogen-activated protein kinase 12 |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:429,635...437,970
Ensembl chr 5:429,770...437,975
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G |
MAPK8IP2 |
mitogen-activated protein kinase 8 interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:120,575...131,060
Ensembl chr 5:120,580...130,939
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G |
MCAT |
malonyl-CoA-acyl carrier protein transacylase |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:5,742,190...5,750,193
Ensembl chr 5:5,742,185...5,751,456
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G |
MIOX |
myo-inositol oxygenase |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:249,312...251,547
Ensembl chr 5:248,235...251,553
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G |
MIR1249-1 |
microRNA mir-1249-1 |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:4,187,912...4,187,993
Ensembl chr 5:4,187,912...4,187,993
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G |
MLC1 |
modulator of VRAC current 1 |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:571,921...593,531
Ensembl chr 5:571,963...591,822
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G |
MOV10L1 |
Mov10 like RNA helicase 1 |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:509,868...567,429
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G |
MPPED1 |
metallophosphoesterase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:5,417,939...5,496,494
Ensembl chr 5:5,417,833...5,486,726
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G |
NCAPH2 |
non-SMC condensin II complex subunit H2 |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:222,784...233,491
Ensembl chr 5:221,471...233,475
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G |
NUP50 |
nucleoporin 50 |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:4,194,308...4,219,410
Ensembl chr 5:4,197,544...4,219,230
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G |
PANX2 |
pannexin 2 |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:497,380...506,126
Ensembl chr 5:497,385...506,013
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G |
PARVB |
parvin beta |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:4,906,667...5,015,494
Ensembl chr 5:4,906,685...5,015,441
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G |
PARVG |
parvin gamma |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:4,874,343...4,899,508
Ensembl chr 5:4,873,153...4,898,647
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G |
PHF21B |
PHD finger protein 21B |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:4,290,962...4,387,112
Ensembl chr 5:4,291,396...4,386,247
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G |
PIM3 |
Pim-3 proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:677,705...680,690
Ensembl chr 5:677,705...680,695
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G |
PKDREJ |
polycystin family receptor for egg jelly |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:3,270,753...3,283,058
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G |
PLXNB2 |
plexin B2 |
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ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:390,347...416,805
Ensembl chr 5:403,765...416,798
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G |
PNPLA3 |
patatin like phospholipase domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:5,075,608...5,092,599
Ensembl chr 5:5,075,622...5,092,515
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G |
PPARA |
peroxisome proliferator activated receptor alpha |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:3,302,755...3,321,091
Ensembl chr 5:3,300,741...3,364,239
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G |
PPP6R2 |
protein phosphatase 6 regulatory subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:285,381...361,309
Ensembl chr 5:285,386...361,548
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G |
PRR5 |
proline rich 5 |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:4,467,231...4,525,610
Ensembl chr 5:4,467,232...4,525,588
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G |
RIBC2 |
RIB43A domain with coiled-coils 2 |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:3,966,339...3,976,024
Ensembl chr 5:3,966,440...3,975,830
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G |
RTL6 |
retrotransposon Gag like 6 |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:4,649,137...4,654,898
Ensembl chr 5:4,649,183...4,655,205
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G |
SAMM50 |
SAMM50 sorting and assembly machinery component |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:5,035,893...5,072,550
Ensembl chr 5:5,035,895...5,071,277
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G |
SBF1 |
SET binding factor 1 |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:260,779...284,512
Ensembl chr 5:260,935...284,509
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G |
SCO2 |
synthesis of cytochrome C oxidase 2 |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:220,801...222,678
Ensembl chr 5:220,814...225,307
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G |
SCUBE1 |
signal peptide, CUB domain and EGF like domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:5,561,479...5,692,339
Ensembl chr 5:5,561,505...5,692,328
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G |
SELENOO |
selenoprotein O |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:467,546...480,836
Ensembl chr 5:467,547...481,230
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G |
SHANK3 |
SH3 and multiple ankyrin repeat domains 3 |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
OMIM ClinVar |
PMID:17173049 PMID:20301377 PMID:21062623 PMID:22892527 PMID:23758743 PMID:24033266 PMID:24759409 PMID:25188300 PMID:25356970 PMID:25724810 PMID:25741868 PMID:27554343 PMID:28135719 PMID:29719671 PMID:30537371 PMID:30763456 PMID:32015180 PMID:32382396 PMID:34737294 More...
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NCBI chr 5:41,376...93,033
Ensembl chr 5:41,786...93,177
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G |
SHISAL1 |
shisa like 1 |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:4,767,436...4,849,333
Ensembl chr 5:4,771,417...4,849,326
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G |
SMC1B |
structural maintenance of chromosomes 1B |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:3,976,098...4,067,148
Ensembl chr 5:3,976,140...4,067,395
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G |
SULT4A1 |
sulfotransferase family 4A member 1 |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:5,131,272...5,156,898
Ensembl chr 5:5,131,252...5,156,894
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G |
SYCE3 |
synaptonemal complex central element protein 3 |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:168,908...201,037
Ensembl chr 5:181,056...200,832
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G |
TAFA5 |
TAFA chemokine like family member 5 |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:1,413,030...1,569,951
Ensembl chr 5:1,414,144...1,569,846
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G |
TBC1D22A |
TBC1 domain family member 22A |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:2,528,920...2,787,313
Ensembl chr 5:2,528,921...2,787,304
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G |
TCF20 |
transcription factor 20 |
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ISO |
OMIM:606232 |
MouseDO |
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NCBI chr 5:6,430,217...6,534,948
Ensembl chr 5:6,484,365...6,528,172
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G |
TRABD |
TraB domain containing |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:485,464...494,574
Ensembl chr 5:485,475...494,534
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G |
TRMU |
tRNA mitochondrial 2-thiouridylase |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:3,208,122...3,224,382
Ensembl chr 5:3,208,118...3,224,366
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G |
TSPO |
translocator protein |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:5,723,190...5,735,097
Ensembl chr 5:5,723,190...5,735,131
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G |
TTC38 |
tetratricopeptide repeat domain 38 |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:3,248,342...3,270,815
Ensembl chr 5:3,248,346...3,270,778
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G |
TTLL1 |
TTL family tubulin polyglutamylase complex subunit L1 |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:5,793,760...5,827,622
Ensembl chr 5:5,793,780...5,827,633
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G |
TTLL12 |
tubulin tyrosine ligase like 12 |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:5,687,895...5,719,003
Ensembl chr 5:5,701,583...5,720,724
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G |
TTLL8 |
tubulin tyrosine ligase like 8 |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:594,614...645,705
Ensembl chr 5:602,886...629,882
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G |
TUBGCP6 |
tubulin gamma complex component 6 |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
|
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NCBI chr 5:445,528...467,537
Ensembl chr 5:445,525...470,548
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G |
UPK3A |
uroplakin 3A |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:4,109,985...4,122,272
Ensembl chr 5:4,109,938...4,119,289
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G |
WNT7B |
Wnt family member 7B |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:3,521,412...3,572,322
Ensembl chr 5:3,521,288...3,572,314
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G |
ZBED4 |
zinc finger BED-type containing 4 |
|
ISO |
ClinVar Annotator: match by term: Phelan-McDermid syndrome |
ClinVar |
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NCBI chr 5:735,882...758,052
Ensembl chr 5:735,884...757,901
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