RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: Phelan-McDermid syndrome
Accession: DOID:0080354
browse the term
Definition: A chromosomal deletion syndrome that has_material_basis_in a deletion, translocation, ring chromosome formation or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene and that is characterized by neonatal hypotonia, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features. Most cases of 22q13.3 deletion syndrome are not inherited with 20% of cases (autosomal dominant) inherited from a parent. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. (DO)
Synonyms: exact_synonym: 22q13 deletion syndrome; 22q13.3 deletion syndrome; PHMDS; chromosome 22q13.3 deletion syndrome; monosomy 22q13; monosomy 22q13 syndrome; telomeric 22q13 monosomy syndrome
broad_synonym: SHANK3-RELATED CONDITION; SHANK3-related disorder
primary_id: MESH:C536801
alt_id: MIM:606232
xref: GARD:10130 ; NCI:C157124 ; ORDO:48652
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ACR
acrosin
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:33,231,521...33,236,141
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ADM2
adrenomedullin 2
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:32,951,199...32,953,251
Ensembl chr19:32,952,115...32,953,157
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ALG12
ALG12 alpha-1,6-mannosyltransferase
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:32,395,413...32,420,160
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ARHGAP8
Rho GTPase activating protein 8
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:27,238,379...27,328,338
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ARSA
arylsulfatase A
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:33,102,803...33,105,958
Ensembl chr19:33,100,117...33,105,926
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ATXN10
ataxin 10
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:28,128,644...28,307,061
Ensembl chr19:28,128,688...28,308,617
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BIK
BCL2 interacting killer
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:25,632,837...25,658,951
Ensembl chr19:25,652,945...25,658,541
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BRD1
bromodomain containing 1
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:32,261,796...32,323,528
Ensembl chr19:32,261,833...32,320,706
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CDPF1
cysteine rich DPF motif domain containing 1
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:28,717,333...28,724,072
Ensembl chr19:28,718,403...28,721,581
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CELSR1
cadherin EGF LAG seven-pass G-type receptor 1
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:28,842,332...29,030,672
Ensembl chr19:28,844,644...29,030,216
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CERK
ceramide kinase
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:29,183,324...29,236,857
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CHKB
choline kinase beta
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:33,055,296...33,059,442
Ensembl chr19:33,055,294...33,059,230
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CIMAP1B
ciliary microtubule associated protein 1B
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:33,001,537...33,004,063
Ensembl chr19:33,001,954...33,003,852
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COL4A5
collagen type IV alpha 5 chain
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
PMID:25741868
NCBI chr X:96,307,927...96,570,592
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CPT1B
carnitine palmitoyltransferase 1B
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:33,044,272...33,055,197
Ensembl chr19:33,043,916...33,054,247
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CRELD2
cysteine rich with EGF like domains 2
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:32,420,315...32,430,770
Ensembl chr19:32,420,370...32,430,904
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DENND6B
DENN domain containing 6B
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:32,801,068...32,815,384
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EFCAB6
EF-hand calcium binding domain 6
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:26,023,566...26,327,309
Ensembl chr19:26,023,643...26,295,493
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FAM118A
family with sequence similarity 118 member A
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:27,779,600...27,811,763
Ensembl chr19:27,779,521...27,813,370
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FBLN1
fibulin 1
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:27,962,669...28,061,356
Ensembl chr19:27,962,642...28,061,364
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GRAMD4
GRAM domain containing 4
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:29,068,166...29,175,646
Ensembl chr19:29,070,023...29,172,977
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GTSE1
G2 and S-phase expressed 1
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:28,776,515...28,811,712
Ensembl chr19:28,777,821...28,811,035
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HDAC10
histone deacetylase 10
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:32,735,091...32,741,200
Ensembl chr19:32,735,406...32,740,817
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IL17REL
interleukin 17 receptor E like
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:32,496,780...32,513,309
Ensembl chr19:32,501,039...32,505,181
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INS
insulin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18948358
NCBI chr 1:1,965,128...1,969,090
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KIAA0930
KIAA0930 ortholog
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:27,664,808...27,709,670
Ensembl chr19:27,666,148...27,709,638
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KLHDC7B
kelch domain containing 7B
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:33,020,849...33,022,961
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LMF2
lipase maturation factor 2
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:32,973,979...32,978,433
Ensembl chr19:32,974,420...32,978,374
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LOC103223489
PRR34 long non-coding RNA
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:28,518,869...28,523,215
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MAPK11
mitogen-activated protein kinase 11
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:32,754,261...32,760,859
Ensembl chr19:32,752,546...32,760,798
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MAPK12
mitogen-activated protein kinase 12
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:32,742,625...32,754,152
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MAPK8IP2
mitogen-activated protein kinase 8 interacting protein 2
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:33,079,548...33,090,221
Ensembl chr19:33,079,626...33,091,514
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MCAT
malonyl-CoA-acyl carrier protein transacylase
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:25,647,290...25,671,239
Ensembl chr19:25,659,856...25,670,894
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MIOX
myo-inositol oxygenase
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:32,953,268...32,960,123
Ensembl chr19:32,957,256...32,961,023
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MLC1
modulator of VRAC current 1
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:32,559,208...32,583,522
Ensembl chr19:32,557,536...32,583,060
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MOV10L1
Mov10 like RNA helicase 1
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:32,586,652...32,653,563
Ensembl chr19:32,587,008...32,653,886
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MPPED1
metallophosphoesterase domain containing 1
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:25,978,304...26,013,760
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NCAPH2
non-SMC condensin II complex subunit H2
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:32,978,771...32,995,055
Ensembl chr19:32,978,562...32,997,160
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NUP50
nucleoporin 50
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:27,632,467...27,656,892
Ensembl chr19:27,632,545...27,653,563
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PANX2
pannexin 2
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:32,662,350...32,671,536
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PARVB
parvin beta
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:26,536,346...26,672,740
Ensembl chr19:26,606,974...26,672,190
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PARVG
parvin gamma
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:26,684,758...26,710,880
Ensembl chr19:26,687,728...26,711,541
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PHF21B
PHD finger protein 21B
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:27,353,586...27,501,080
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PIM3
Pim-3 proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:32,466,432...32,470,001
Ensembl chr19:32,466,771...32,470,006
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PKDREJ
polycystin family receptor for egg jelly
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:28,728,474...28,736,676
Ensembl chr19:28,729,375...28,736,145
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PLXNB2
plexin B2
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:32,764,329...32,797,223
Ensembl chr19:32,764,272...32,784,566
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PNPLA3
patatin like phospholipase domain containing 3
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:26,435,302...26,458,368
Ensembl chr19:26,435,599...26,462,210
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PNPLA5
patatin like phospholipase domain containing 5
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:26,396,040...26,408,553
Ensembl chr19:26,397,163...26,408,126
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PPARA
peroxisome proliferator activated receptor alpha
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
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PPP6R2
protein phosphatase 6 regulatory subunit 2
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:32,824,732...32,917,356
Ensembl chr19:32,866,039...32,916,534
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PRR5
proline rich 5
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:27,164,900...27,225,398
Ensembl chr19:27,165,278...27,226,907
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RABL2B
RAB, member of RAS oncogene family like 2B
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:33,247,315...33,261,631
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RIBC2
RIB43A domain with coiled-coils 2
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:27,879,777...27,900,198
Ensembl chr19:27,879,972...27,900,659
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RTL6
retrotransposon Gag like 6
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:26,976,277...26,981,092
Ensembl chr19:26,979,791...26,980,510
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SAMM50
SAMM50 sorting and assembly machinery component
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:26,467,319...26,509,695
Ensembl chr19:26,467,278...26,510,168
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SBF1
SET binding factor 1
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:32,919,029...32,945,333
Ensembl chr19:32,919,341...32,938,690
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SCO2
SCO2, cytochrome c oxidase assembly protein
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:32,995,153...32,997,249
Ensembl chr19:32,995,196...32,995,996
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SCUBE1
signal peptide, CUB domain and EGF like domain containing 1
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:25,731,128...25,873,120
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SELENOO
selenoprotein O
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:32,692,237...32,708,595
Ensembl chr19:32,693,005...32,708,437
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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...
NCBI chr19:33,155,695...33,209,679
Ensembl chr19:33,155,770...33,208,224
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SHISAL1
shisa like 1
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:26,755,029...26,832,855
Ensembl chr19:26,755,829...26,833,072
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SMC1B
structural maintenance of chromosomes 1B
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:27,814,944...27,879,692
Ensembl chr19:27,815,442...27,879,640
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SULT4A1
sulfotransferase family 4A member 1
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:26,339,693...26,379,260
Ensembl chr19:26,339,582...26,379,249
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SYCE3
synaptonemal complex central element protein 3
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:33,023,956...33,038,641
Ensembl chr19:33,023,960...33,038,600
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TAFA5
TAFA chemokine like family member 5
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:30,985,913...31,247,087
Ensembl chr19:31,073,084...31,247,161
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TBC1D22A
TBC1 domain family member 22A
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:29,260,995...29,681,768
Ensembl chr19:29,261,018...29,684,409
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TCF20
transcription factor 20
ISO
OMIM:606232
MouseDO
NCBI chr19:24,693,036...24,877,150
Ensembl chr19:24,692,374...24,853,507
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TRABD
TraB domain containing
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:32,677,292...32,691,565
Ensembl chr19:32,684,603...32,692,742
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TRMU
tRNA mitochondrial 2-thiouridylase
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:28,816,293...28,838,259
Ensembl chr19:28,816,524...28,837,935
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TSPO
translocator protein
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:25,678,602...25,690,556
Ensembl chr19:25,686,981...25,690,768
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TTC38
tetratricopeptide repeat domain 38
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:28,749,590...28,775,475
Ensembl chr19:28,749,657...28,777,171
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TTLL1
TTL family tubulin polyglutamylase complex subunit L1
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:25,576,525...25,616,413
Ensembl chr19:25,576,379...25,616,328
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TTLL12
tubulin tyrosine ligase like 12
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:25,693,844...25,714,386
Ensembl chr19:25,692,610...25,714,342
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TTLL8
tubulin tyrosine ligase like 8
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:32,519,898...32,556,437
Ensembl chr19:32,520,001...32,555,079
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TUBGCP6
tubulin gamma complex component 6
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:32,708,760...32,735,000
Ensembl chr19:32,708,807...32,734,373
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TYMP
thymidine phosphorylase
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:32,997,337...33,001,558
Ensembl chr19:32,997,304...33,001,215
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UPK3A
uroplakin 3A
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:27,749,232...27,761,309
Ensembl chr19:27,750,876...27,761,295
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WNT7B
Wnt family member 7B
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:28,387,324...28,444,019
Ensembl chr19:28,385,422...28,441,350
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ZBED4
zinc finger BED-type containing 4
ISO
ClinVar Annotator: match by term: Phelan-McDermid syndrome
ClinVar
NCBI chr19:32,349,021...32,382,481
Ensembl chr19:32,377,676...32,381,191
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