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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
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Accession:DOID:0080354 term browser 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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Phelan-McDermid syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AC000036.1 novel transcript IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,735,829...50,738,169
Ensembl chr22:50,735,825...50,738,139 		JBrowse link
G ACR acrosin IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,738,204...50,745,339
Ensembl chr22:50,738,196...50,745,339 		JBrowse link
G ADM2 adrenomedullin 2 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,481,543...50,486,437
Ensembl chr22:50,481,543...50,486,440 		JBrowse link
G AL079301.1 novel transcript IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,000,565...45,003,619
Ensembl chr22:45,000,565...45,003,619 		JBrowse link
G ALG12 ALG12 alpha-1,6-mannosyltransferase IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,859,311...49,918,438
Ensembl chr22:49,900,229...49,918,438 		JBrowse link
G ARHGAP8 Rho GTPase activating protein 8 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,752,575...44,862,784
Ensembl chr22:44,752,558...44,862,788 		JBrowse link
G ARSA arylsulfatase A IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,622,754...50,628,152
Ensembl chr22:50,622,754...50,628,173 		JBrowse link
G ATXN10 ataxin 10 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,671,834...45,845,307
Ensembl chr22:45,671,798...45,845,307 		JBrowse link
G BIK BCL2 interacting killer IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,110,750...43,129,712
Ensembl chr22:43,110,750...43,129,712 		JBrowse link
G BRD1 bromodomain containing 1 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,773,278...49,827,873
Ensembl chr22:49,773,278...49,827,873 		JBrowse link
G CDPF1 cysteine rich DPF motif domain containing 1 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,244,013...46,250,293
Ensembl chr22:46,244,011...46,250,311 		JBrowse link
G CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,361,174...46,537,620
Ensembl chr22:46,360,834...46,537,620 		JBrowse link
G CERK ceramide kinase IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,684,410...46,738,252
Ensembl chr22:46,684,410...46,738,252 		JBrowse link
G CHKB choline kinase beta IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,578,963...50,582,849
Ensembl chr22:50,578,959...50,601,455 		JBrowse link
G CHKB-CPT1B CHKB-CPT1B readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,568,861...50,582,999
Ensembl chr22:50,568,869...50,582,965 		JBrowse link
G CHKB-DT CHKB divergent transcript IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,583,026...50,595,281
Ensembl chr22:50,583,026...50,597,599 		JBrowse link
G CIMAP1B ciliary microtubule associated protein 1B IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,530,426...50,532,498
Ensembl chr22:50,529,710...50,532,506 		JBrowse link
G COL4A5 collagen type IV alpha 5 chain IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar PMID:25741868 NCBI chr  X:108,439,838...108,697,545
Ensembl chr  X:108,439,838...108,697,545 		JBrowse link
G CPT1B carnitine palmitoyltransferase 1B IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,568,861...50,578,612
Ensembl chr22:50,568,861...50,578,465 		JBrowse link
G CRELD2 cysteine rich with EGF like domains 2 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,918,634...49,927,537
Ensembl chr22:49,918,167...49,927,540 		JBrowse link
G DENND6B DENN domain containing 6B IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,309,030...50,327,012
Ensembl chr22:50,309,030...50,327,012 		JBrowse link
G EFCAB6 EF-hand calcium binding domain 6 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,528,778...43,812,305
Ensembl chr22:43,528,744...43,812,337 		JBrowse link
G EFCAB6-AS1 EFCAB6 antisense RNA 1 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,516,254...43,536,605
Ensembl chr22:43,516,107...43,560,063 		JBrowse link
G EFCAB6-DT EFCAB6 divergent transcript IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,812,422...43,817,902
Ensembl chr22:43,811,869...43,817,906 		JBrowse link
G EPIC1 epigenetically induced MYC interacting lncRNA 1 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:47,631,674...47,855,600
Ensembl chr22:47,630,827...48,023,004 		JBrowse link
G FAM118A family with sequence similarity 118 member A IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,308,960...45,341,955
Ensembl chr22:45,308,968...45,341,955 		JBrowse link
G FBLN1 fibulin 1 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,502,883...45,601,135
Ensembl chr22:45,502,238...45,601,135 		JBrowse link
G GRAMD4 GRAM domain containing 4 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,575,744...46,682,756
Ensembl chr22:46,576,012...46,679,790 		JBrowse link
G GTSE1 G2 and S-phase expressed 1 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,296,870...46,330,810
Ensembl chr22:46,296,870...46,330,810 		JBrowse link
G GTSE1-DT GTSE1 divergent transcript IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,295,143...46,296,660
Ensembl chr22:46,295,143...46,296,660 		JBrowse link
G HDAC10 histone deacetylase 10 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,245,183...50,251,265
Ensembl chr22:50,245,183...50,251,405 		JBrowse link
G IL17REL interleukin 17 receptor E like IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,991,811...50,012,765
Ensembl chr22:49,991,811...50,012,765 		JBrowse link
G INS insulin EXP CTD Direct Evidence: therapeutic CTD PMID:18948358 NCBI chr11:2,159,779...2,161,209
Ensembl chr11:2,159,779...2,161,221 		JBrowse link
G KIAA0930 KIAA0930 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,192,244...45,240,894
Ensembl chr22:45,192,244...45,240,894 		JBrowse link
G KLHDC7B kelch domain containing 7B IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,545,899...50,551,023
Ensembl chr22:50,545,899...50,551,023 		JBrowse link
G KLHDC7B-DT KLHDC7B divergent transcript IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,542,303...50,544,319
Ensembl chr22:50,542,299...50,548,994 		JBrowse link
G LINC00207 long intergenic non-protein coding RNA 207 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,569,340...44,572,449
Ensembl chr22:44,569,285...44,572,468 		JBrowse link
G LINC00229 long intergenic non-protein coding RNA 229 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,606,328...44,625,419
Ensembl chr22:44,606,289...44,625,431 		JBrowse link
G LINC00898 long intergenic non-protein coding RNA 898 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:47,621,043...47,631,569
Ensembl chr22:47,612,231...47,631,569 		JBrowse link
G LINC00899 long intergenic non-protein coding RNA 899 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,039,907...46,044,868
Ensembl chr22:46,039,907...46,048,412 		JBrowse link
G LINC01310 long intergenic non-protein coding RNA 1310 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:48,866,770...48,898,386
Ensembl chr22:48,866,770...48,898,386 		JBrowse link
G LINC01589 long intergenic non-protein coding RNA 1589 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,604,432...45,605,647
Ensembl chr22:45,604,413...45,639,173 		JBrowse link
G LINC01639 long intergenic non-protein coding RNA 1639 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,400,331...43,409,681
Ensembl chr22:43,399,604...43,409,728 		JBrowse link
G LINC01644 long intergenic non-protein coding RNA 1644 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:47,461,299...47,487,111
Ensembl chr22:47,402,297...47,488,149 		JBrowse link
G LINC01656 long intergenic non-protein coding RNA 1656 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,443,327...44,444,788
Ensembl chr22:44,443,290...44,444,793 		JBrowse link
G LINC02925 long intergenic non-protein coding RNA 2925 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,541,495...46,548,197
Ensembl chr22:46,537,892...46,557,010 		JBrowse link
G LINC02939 long intergenic non-protein coding RNA 2939 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,064,651...46,071,021 JBrowse link
G LMF2 lipase maturation factor 2 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,502,949...50,507,702
Ensembl chr22:50,502,949...50,507,702 		JBrowse link
G LOC105373064 uncharacterized LOC105373064 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,176,242...45,191,612 JBrowse link
G LOC105377205 uncharacterized LOC105377205 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,832,449...49,853,512
Ensembl chr22:49,832,449...49,838,901 		JBrowse link
G LOC107181287 origin of replication for ATXN10 repeat region IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,794,654...45,795,563 JBrowse link
G LOC107832855 meiotic recombination hotspot 22A IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:48,288,823...48,290,949 JBrowse link
G LOC107985535 uncharacterized LOC107985535 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,876,080...45,887,726
Ensembl chr22:45,875,999...45,891,438 		JBrowse link
G LOC108281149 ODF3B-KLHDC7B intergenic CAGE-defined mid-level expression enhancer IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,539,410...50,540,028 JBrowse link
G LOC108660404 ataxin 10 repeat instability region IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,795,355...45,795,424 JBrowse link
G LOC110121397 VISTA enhancer hs1559 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,845,035...45,846,420 JBrowse link
G LOC111556137 HNF1 motif-containing MPRA enhancer 63 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,246,413...45,246,557 JBrowse link
G LOC111828508 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:46364456-46365655 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,968,576...45,969,775 JBrowse link
G LOC111828509 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:49768106-49769047 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,372,203...49,373,144 JBrowse link
G LOC112695103 Sharpr-MPRA regulatory region 5228 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,140,088...45,140,382 JBrowse link
G LOC112695104 Sharpr-MPRA regulatory region 3085 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,627,589...45,627,883 JBrowse link
G LOC112695105 CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:46034441-46035640 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,638,561...45,640,158 JBrowse link
G LOC112695106 Sharpr-MPRA regulatory region 4711 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:47,678,180...47,678,474 JBrowse link
G LOC112695107 H3K4me1 hESC enhancer GRCh37_chr22:49001381-49002302 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:48,605,569...48,606,490 JBrowse link
G LOC112695108 Sharpr-MPRA regulatory region 10948 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:48,945,777...48,946,071 JBrowse link
G LOC114004363 Sharpr-MPRA regulatory region 15126 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,867,849...43,868,143 JBrowse link
G LOC114004364 Sharpr-MPRA regulatory region 3533 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,975,629...44,975,923 JBrowse link
G LOC114827849 VISTA enhancer hs1924 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,546,638...46,549,963 JBrowse link
G LOC121627948 Sharpr-MPRA regulatory region 1995 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,089,159...43,089,557 JBrowse link
G LOC121627949 Sharpr-MPRA regulatory region 12495 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,293,743...43,294,037 JBrowse link
G LOC121627950 Sharpr-MPRA regulatory region 5125 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,945,810...43,946,203 JBrowse link
G LOC121627951 Sharpr-MPRA regulatory region 10691 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,302,088...45,302,382 JBrowse link
G LOC121627952 CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:46772879-46774078 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,376,982...46,378,181 JBrowse link
G LOC121627953 Sharpr-MPRA regulatory region 8687 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,563,772...46,564,066 JBrowse link
G LOC121627954 Sharpr-MPRA regulatory region 10248 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,638,892...46,639,186 JBrowse link
G LOC121627955 Sharpr-MPRA regulatory region 13395 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:47,452,220...47,452,514 JBrowse link
G LOC121627956 Sharpr-MPRA regulatory region 5053 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,620,461...50,620,755 JBrowse link
G LOC121853045 Sharpr-MPRA regulatory region 7153 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,101,263...43,101,557 JBrowse link
G LOC121853046 Sharpr-MPRA regulatory region 7347 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,723,809...44,724,103 JBrowse link
G LOC121853047 Sharpr-MPRA regulatory region 5393 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,541,680...50,541,974 JBrowse link
G LOC121853048 Sharpr-MPRA regulatory region 1531 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,576,140...50,576,434 JBrowse link
G LOC125446254 Sharpr-MPRA regulatory region 15411 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,231,243...43,231,537 JBrowse link
G LOC125446255 Sharpr-MPRA regulatory region 5104 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,159,708...45,160,002 JBrowse link
G LOC125446257 Sharpr-MPRA regulatory region 3871 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,552,172...46,552,466 JBrowse link
G LOC125446258 Sharpr-MPRA regulatory region 6253 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,686,312...46,686,606 JBrowse link
G LOC125446259 Sharpr-MPRA regulatory region 11654 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,771,381...49,771,675 JBrowse link
G LOC125446260 Sharpr-MPRA regulatory region 8073 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,935,881...49,936,742 JBrowse link
G LOC125446261 Sharpr-MPRA regulatory region 9327 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,083,060...50,083,354 JBrowse link
G LOC125446262 Sharpr-MPRA regulatory region 13947 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,544,220...50,544,514 JBrowse link
G LOC126088082 CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:47571494-47572693 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:47,175,851...47,176,941 JBrowse link
G LOC126863161 BRD4-independent group 4 enhancer GRCh37_chr22:43659412-43660611 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,263,406...43,265,018 JBrowse link
G LOC126863162 MED14-independent group 3 enhancer GRCh37_chr22:44293320-44294519 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,897,440...43,898,639 JBrowse link
G LOC126863163 MED14-independent group 3 enhancer GRCh37_chr22:44844727-44845926 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,448,847...44,450,046 JBrowse link
G LOC126863164 BRD4-independent group 4 enhancer GRCh37_chr22:45264084-45265283 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,867,336...44,869,403 JBrowse link
G LOC126863165 BRD4-independent group 4 enhancer GRCh37_chr22:45468530-45469729 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,072,649...45,073,848 JBrowse link
G LOC126863166 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:46021696-46022895 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,625,816...45,627,015 JBrowse link
G LOC126863167 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:46481213-46482412 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,085,061...46,086,532 JBrowse link
G LOC126863168 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:46718535-46719734 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,322,638...46,323,837 JBrowse link
G LOC126863169 BRD4-independent group 4 enhancer GRCh37_chr22:46782038-46783237 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,386,141...46,387,340 JBrowse link
G LOC126863170 CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:46858535-46859734 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,462,638...46,463,869 JBrowse link
G LOC126863171 MED14-independent group 3 enhancer GRCh37_chr22:47106581-47107780 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,710,684...46,711,883 JBrowse link
G LOC126863172 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:47330185-47331384 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,934,289...46,935,488 JBrowse link
G LOC126863173 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:47525234-47526433 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:47,129,591...47,130,790 JBrowse link
G LOC126863174 BRD4-independent group 4 enhancer GRCh37_chr22:47550202-47551401 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:47,154,559...47,155,758 JBrowse link
G LOC126863175 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:47724406-47725605 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:47,328,656...47,329,855 JBrowse link
G LOC126863176 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:47765496-47766695 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:47,369,746...47,370,945 JBrowse link
G LOC126863177 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:47983860-47985059 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:47,588,111...47,589,310 JBrowse link
G LOC126863178 MED14-independent group 3 enhancer GRCh37_chr22:48268308-48269507 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:47,872,559...47,873,758 JBrowse link
G LOC126863179 BRD4-independent group 4 enhancer GRCh37_chr22:48279628-48280827 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:47,883,879...47,885,078 JBrowse link
G LOC126863180 CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:48841523-48842722 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:48,445,711...48,446,910 JBrowse link
G LOC126863181 MED14-independent group 3 enhancer GRCh37_chr22:49479476-49480675 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,083,664...49,084,863 JBrowse link
G LOC126863182 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:49583849-49585048 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,187,923...49,189,122 JBrowse link
G LOC126863183 CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:49678386-49679585 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,282,460...49,283,659 JBrowse link
G LOC126863184 MED14-independent group 3 enhancer GRCh37_chr22:50720546-50721745 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,282,117...50,283,316 JBrowse link
G LOC126863185 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:50743729-50744928 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,305,300...50,306,499 JBrowse link
G LOC126863186 MED14-independent group 3 enhancer GRCh37_chr22:50844619-50845818 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,406,190...50,407,389 JBrowse link
G LOC126863187 CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:51094338-51095537 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,655,910...50,657,109 JBrowse link
G LOC126863188 CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:51142004-51143203 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar PMID:25741868 NCBI chr22:50,703,576...50,704,956 JBrowse link
G LOC128772436 melanoma risk locus-associated MPRA allelic enhancer 22:45598280 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,202,327...45,202,471 JBrowse link
G LOC128772437 melanoma risk locus-associated MPRA allelic enhancer 22:45629066 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,233,113...45,233,257 JBrowse link
G LOC128772438 melanoma risk locus-associated MPRA allelic enhancer 22:45631393 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,235,240...45,235,589 JBrowse link
G LOC129391285 MPRA-validated peak4505 silencer IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,449,338...43,449,537 JBrowse link
G LOC129391286 MPRA-validated peak4509 silencer IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:48,070,079...48,070,279 JBrowse link
G LOC129391287 MPRA-validated peak4510 silencer IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:48,167,319...48,167,519 JBrowse link
G LOC129391288 MPRA-validated peak4515 silencer IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:48,942,023...48,942,223 JBrowse link
G LOC129391289 MPRA-validated peak4516 silencer IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,208,770...49,208,970 JBrowse link
G LOC129391290 MPRA-validated peak4517 silencer IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,504,267...49,504,467 JBrowse link
G LOC129391291 MPRA-validated peak4519 silencer IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,669,247...49,669,447 JBrowse link
G LOC130067626 ATAC-STARR-seq lymphoblastoid silent region 13852 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,090,306...43,090,365 JBrowse link
G LOC130067627 ATAC-STARR-seq lymphoblastoid silent region 13854 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,111,400...43,111,619 JBrowse link
G LOC130067628 ATAC-STARR-seq lymphoblastoid active region 19183 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,119,237...43,119,396 JBrowse link
G LOC130067629 ATAC-STARR-seq lymphoblastoid silent region 13855 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,143,153...43,143,422 JBrowse link
G LOC130067630 ATAC-STARR-seq lymphoblastoid active region 19185 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,147,892...43,148,101 JBrowse link
G LOC130067631 ATAC-STARR-seq lymphoblastoid silent region 13856 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,151,311...43,151,530 JBrowse link
G LOC130067632 ATAC-STARR-seq lymphoblastoid active region 19186 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,152,152...43,152,251 JBrowse link
G LOC130067633 ATAC-STARR-seq lymphoblastoid active region 19188 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,186,320...43,186,379 JBrowse link
G LOC130067634 ATAC-STARR-seq lymphoblastoid silent region 13857 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,186,760...43,186,979 JBrowse link
G LOC130067635 ATAC-STARR-seq lymphoblastoid silent region 13858 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,187,020...43,187,179 JBrowse link
G LOC130067636 ATAC-STARR-seq lymphoblastoid silent region 13859 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,187,428...43,187,547 JBrowse link
G LOC130067637 ATAC-STARR-seq lymphoblastoid active region 19191 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,812,400...43,812,669 JBrowse link
G LOC130067638 ATAC-STARR-seq lymphoblastoid active region 19196 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,996,180...43,996,349 JBrowse link
G LOC130067639 ATAC-STARR-seq lymphoblastoid silent region 13860 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,024,170...44,024,279 JBrowse link
G LOC130067640 ATAC-STARR-seq lymphoblastoid silent region 13861 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,024,310...44,024,429 JBrowse link
G LOC130067641 ATAC-STARR-seq lymphoblastoid silent region 13862 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,024,500...44,024,549 JBrowse link
G LOC130067642 ATAC-STARR-seq lymphoblastoid silent region 13863 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,024,600...44,024,809 JBrowse link
G LOC130067643 ATAC-STARR-seq lymphoblastoid active region 19197 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,025,580...44,025,659 JBrowse link
G LOC130067644 ATAC-STARR-seq lymphoblastoid active region 19198 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,025,670...44,025,749 JBrowse link
G LOC130067645 ATAC-STARR-seq lymphoblastoid active region 19199 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,025,790...44,025,839 JBrowse link
G LOC130067646 ATAC-STARR-seq lymphoblastoid active region 19200 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,025,910...44,025,959 JBrowse link
G LOC130067647 ATAC-STARR-seq lymphoblastoid active region 19201 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,026,460...44,026,569 JBrowse link
G LOC130067648 ATAC-STARR-seq lymphoblastoid active region 19202 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,026,970...44,027,279 JBrowse link
G LOC130067649 ATAC-STARR-seq lymphoblastoid active region 19203 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,027,290...44,027,449 JBrowse link
G LOC130067650 ATAC-STARR-seq lymphoblastoid active region 19204 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,042,180...44,042,289 JBrowse link
G LOC130067651 ATAC-STARR-seq lymphoblastoid active region 19205 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,068,471...44,068,620 JBrowse link
G LOC130067652 ATAC-STARR-seq lymphoblastoid active region 19206 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,068,781...44,068,920 JBrowse link
G LOC130067653 ATAC-STARR-seq lymphoblastoid active region 19207 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,172,433...44,172,612 JBrowse link
G LOC130067654 ATAC-STARR-seq lymphoblastoid active region 19208 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,172,623...44,172,672 JBrowse link
G LOC130067655 ATAC-STARR-seq lymphoblastoid silent region 13864 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,180,186...44,180,235 JBrowse link
G LOC130067656 ATAC-STARR-seq lymphoblastoid silent region 13866 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,190,993...44,191,082 JBrowse link
G LOC130067657 ATAC-STARR-seq lymphoblastoid active region 19211 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,455,587...44,455,736 JBrowse link
G LOC130067658 ATAC-STARR-seq lymphoblastoid silent region 13867 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,498,164...44,498,293 JBrowse link
G LOC130067659 ATAC-STARR-seq lymphoblastoid silent region 13868 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,498,384...44,498,443 JBrowse link
G LOC130067660 ATAC-STARR-seq lymphoblastoid active region 19212 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,652,750...44,652,929 JBrowse link
G LOC130067661 ATAC-STARR-seq lymphoblastoid silent region 13869 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,702,078...44,702,487 JBrowse link
G LOC130067662 ATAC-STARR-seq lymphoblastoid silent region 13870 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,820,775...44,820,874 JBrowse link
G LOC130067663 ATAC-STARR-seq lymphoblastoid active region 19214 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,954,184...44,954,233 JBrowse link
G LOC130067664 ATAC-STARR-seq lymphoblastoid active region 19215 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,954,294...44,954,343 JBrowse link
G LOC130067665 ATAC-STARR-seq lymphoblastoid active region 19216 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,955,136...44,955,375 JBrowse link
G LOC130067666 ATAC-STARR-seq lymphoblastoid silent region 13872 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,163,437...45,163,486 JBrowse link
G LOC130067667 ATAC-STARR-seq lymphoblastoid silent region 13874 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,164,517...45,164,696 JBrowse link
G LOC130067668 ATAC-STARR-seq lymphoblastoid active region 19218 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,235,650...45,235,779 JBrowse link
G LOC130067669 ATAC-STARR-seq lymphoblastoid active region 19219 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,235,800...45,235,879 JBrowse link
G LOC130067670 ATAC-STARR-seq lymphoblastoid active region 19220 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,235,940...45,236,039 JBrowse link
G LOC130067671 ATAC-STARR-seq lymphoblastoid silent region 13875 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,240,468...45,240,557 JBrowse link
G LOC130067672 ATAC-STARR-seq lymphoblastoid silent region 13876 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,240,708...45,240,767 JBrowse link
G LOC130067673 ATAC-STARR-seq lymphoblastoid silent region 13877 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,240,928...45,240,987 JBrowse link
G LOC130067674 ATAC-STARR-seq lymphoblastoid silent region 13878 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,241,018...45,241,217 JBrowse link
G LOC130067675 ATAC-STARR-seq lymphoblastoid active region 19221 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,246,737...45,246,796 JBrowse link
G LOC130067676 ATAC-STARR-seq lymphoblastoid active region 19222 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,249,632...45,249,681 JBrowse link
G LOC130067677 ATAC-STARR-seq lymphoblastoid active region 19223 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,254,863...45,255,042 JBrowse link
G LOC130067678 ATAC-STARR-seq lymphoblastoid active region 19224 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,263,350...45,263,399 JBrowse link
G LOC130067679 ATAC-STARR-seq lymphoblastoid silent region 13879 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,269,074...45,269,303 JBrowse link
G LOC130067680 ATAC-STARR-seq lymphoblastoid silent region 13880 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,284,770...45,285,079 JBrowse link
G LOC130067681 ATAC-STARR-seq lymphoblastoid silent region 13881 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,309,600...45,310,279 JBrowse link
G LOC130067682 ATAC-STARR-seq lymphoblastoid active region 19226 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,318,482...45,318,531 JBrowse link
G LOC130067683 ATAC-STARR-seq lymphoblastoid active region 19227 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,318,582...45,318,651 JBrowse link
G LOC130067684 ATAC-STARR-seq lymphoblastoid active region 19228 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,553,847...45,553,956 JBrowse link
G LOC130067685 ATAC-STARR-seq lymphoblastoid silent region 13882 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,645,668...45,645,957 JBrowse link
G LOC130067686 ATAC-STARR-seq lymphoblastoid silent region 13883 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,645,968...45,646,037 JBrowse link
G LOC130067687 ATAC-STARR-seq lymphoblastoid silent region 13884 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,671,507...45,671,696 JBrowse link
G LOC130067688 ATAC-STARR-seq lymphoblastoid silent region 13885 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,671,757...45,671,806 JBrowse link
G LOC130067689 ATAC-STARR-seq lymphoblastoid silent region 13886 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,672,137...45,672,466 JBrowse link
G LOC130067690 ATAC-STARR-seq lymphoblastoid active region 19229 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,696,422...45,696,521 JBrowse link
G LOC130067691 ATAC-STARR-seq lymphoblastoid silent region 13887 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,777,636...45,777,695 JBrowse link
G LOC130067692 ATAC-STARR-seq lymphoblastoid silent region 13888 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,785,708...45,785,757 JBrowse link
G LOC130067693 ATAC-STARR-seq lymphoblastoid silent region 13889 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,978,535...45,978,684 JBrowse link
G LOC130067694 ATAC-STARR-seq lymphoblastoid silent region 13890 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,978,765...45,979,334 JBrowse link
G LOC130067695 ATAC-STARR-seq lymphoblastoid silent region 13891 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,996,452...45,996,601 JBrowse link
G LOC130067696 ATAC-STARR-seq lymphoblastoid active region 19230 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,001,034...46,001,203 JBrowse link
G LOC130067697 ATAC-STARR-seq lymphoblastoid silent region 13892 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,013,683...46,013,872 JBrowse link
G LOC130067698 ATAC-STARR-seq lymphoblastoid silent region 13893 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,014,023...46,014,112 JBrowse link
G LOC130067699 ATAC-STARR-seq lymphoblastoid silent region 13894 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,035,649...46,035,738 JBrowse link
G LOC130067700 ATAC-STARR-seq lymphoblastoid silent region 13895 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,035,799...46,036,398 JBrowse link
G LOC130067701 ATAC-STARR-seq lymphoblastoid silent region 13896 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,053,616...46,053,735 JBrowse link
G LOC130067702 ATAC-STARR-seq lymphoblastoid silent region 13897 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,053,976...46,054,135 JBrowse link
G LOC130067703 ATAC-STARR-seq lymphoblastoid active region 19231 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,058,325...46,058,374 JBrowse link
G LOC130067704 ATAC-STARR-seq lymphoblastoid silent region 13898 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,070,663...46,071,442 JBrowse link
G LOC130067705 ATAC-STARR-seq lymphoblastoid silent region 13899 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,071,503...46,071,582 JBrowse link
G LOC130067706 ATAC-STARR-seq lymphoblastoid silent region 13900 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,071,713...46,071,922 JBrowse link
G LOC130067707 ATAC-STARR-seq lymphoblastoid silent region 13903 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,149,987...46,150,596 JBrowse link
G LOC130067708 ATAC-STARR-seq lymphoblastoid silent region 13904 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,150,747...46,150,866 JBrowse link
G LOC130067709 ATAC-STARR-seq lymphoblastoid active region 19232 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,151,077...46,151,266 JBrowse link
G LOC130067710 ATAC-STARR-seq lymphoblastoid silent region 13905 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,249,872...46,250,041 JBrowse link
G LOC130067711 ATAC-STARR-seq lymphoblastoid active region 19233 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,254,381...46,254,460 JBrowse link
G LOC130067712 ATAC-STARR-seq lymphoblastoid silent region 13907 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,267,905...46,268,064 JBrowse link
G LOC130067713 ATAC-STARR-seq lymphoblastoid silent region 13908 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,268,075...46,268,284 JBrowse link
G LOC130067714 ATAC-STARR-seq lymphoblastoid silent region 13909 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,296,928...46,297,127 JBrowse link
G LOC130067715 ATAC-STARR-seq lymphoblastoid active region 19234 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,297,278...46,297,387 JBrowse link
G LOC130067716 ATAC-STARR-seq lymphoblastoid active region 19236 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,367,906...46,367,965 JBrowse link
G LOC130067717 ATAC-STARR-seq lymphoblastoid silent region 13911 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,421,274...46,421,323 JBrowse link
G LOC130067718 ATAC-STARR-seq lymphoblastoid active region 19237 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,432,569...46,432,618 JBrowse link
G LOC130067719 ATAC-STARR-seq lymphoblastoid active region 19238 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,433,189...46,433,308 JBrowse link
G LOC130067720 ATAC-STARR-seq lymphoblastoid active region 19239 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,488,167...46,488,276 JBrowse link
G LOC130067721 ATAC-STARR-seq lymphoblastoid active region 19240 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,564,056...46,564,225 JBrowse link
G LOC130067722 ATAC-STARR-seq lymphoblastoid silent region 13912 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,577,048...46,577,247 JBrowse link
G LOC130067723 ATAC-STARR-seq lymphoblastoid active region 19241 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,581,848...46,581,927 JBrowse link
G LOC130067724 ATAC-STARR-seq lymphoblastoid active region 19242 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,582,646...46,582,745 JBrowse link
G LOC130067725 ATAC-STARR-seq lymphoblastoid silent region 13913 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,587,726...46,587,775 JBrowse link
G LOC130067726 ATAC-STARR-seq lymphoblastoid silent region 13914 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,588,126...46,588,175 JBrowse link
G LOC130067727 ATAC-STARR-seq lymphoblastoid silent region 13915 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,593,503...46,593,562 JBrowse link
G LOC130067728 ATAC-STARR-seq lymphoblastoid active region 19243 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,604,652...46,604,731 JBrowse link
G LOC130067729 ATAC-STARR-seq lymphoblastoid active region 19244 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,613,353...46,613,492 JBrowse link
G LOC130067730 ATAC-STARR-seq lymphoblastoid active region 19245 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,674,203...46,674,282 JBrowse link
G LOC130067731 ATAC-STARR-seq lymphoblastoid active region 19246 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,674,483...46,674,632 JBrowse link
G LOC130067732 ATAC-STARR-seq lymphoblastoid active region 19247 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,674,673...46,674,732 JBrowse link
G LOC130067733 ATAC-STARR-seq lymphoblastoid active region 19248 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,737,325...46,737,494 JBrowse link
G LOC130067734 ATAC-STARR-seq lymphoblastoid silent region 13916 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,737,645...46,738,604 JBrowse link
G LOC130067735 ATAC-STARR-seq lymphoblastoid active region 19251 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,763,098...46,763,177 JBrowse link
G LOC130067736 ATAC-STARR-seq lymphoblastoid silent region 13917 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,763,298...46,763,357 JBrowse link
G LOC130067737 ATAC-STARR-seq lymphoblastoid active region 19252 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,764,108...46,764,177 JBrowse link
G LOC130067738 ATAC-STARR-seq lymphoblastoid active region 19253 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,764,218...46,764,297 JBrowse link
G LOC130067739 ATAC-STARR-seq lymphoblastoid active region 19254 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,764,318...46,764,367 JBrowse link
G LOC130067740 ATAC-STARR-seq lymphoblastoid active region 19255 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,768,857...46,768,906 JBrowse link
G LOC130067741 ATAC-STARR-seq lymphoblastoid active region 19257 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,774,217...46,774,296 JBrowse link
G LOC130067742 ATAC-STARR-seq lymphoblastoid active region 19258 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,774,337...46,774,406 JBrowse link
G LOC130067743 ATAC-STARR-seq lymphoblastoid active region 19259 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,777,691...46,777,770 JBrowse link
G LOC130067744 ATAC-STARR-seq lymphoblastoid active region 19260 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,788,382...46,788,481 JBrowse link
G LOC130067745 ATAC-STARR-seq lymphoblastoid active region 19261 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,791,491...46,791,600 JBrowse link
G LOC130067746 ATAC-STARR-seq lymphoblastoid active region 19262 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,803,218...46,803,267 JBrowse link
G LOC130067747 ATAC-STARR-seq lymphoblastoid active region 19263 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,803,288...46,803,457 JBrowse link
G LOC130067748 ATAC-STARR-seq lymphoblastoid active region 19264 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,803,478...46,803,527 JBrowse link
G LOC130067749 ATAC-STARR-seq lymphoblastoid active region 19265 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,933,526...46,933,575 JBrowse link
G LOC130067750 ATAC-STARR-seq lymphoblastoid active region 19266 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,933,586...46,933,755 JBrowse link
G LOC130067751 ATAC-STARR-seq lymphoblastoid active region 19267 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:47,001,377...47,001,566 JBrowse link
G LOC130067752 ATAC-STARR-seq lymphoblastoid active region 19268 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:47,059,978...47,060,037 JBrowse link
G LOC130067753 ATAC-STARR-seq lymphoblastoid silent region 13919 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:47,213,728...47,213,847 JBrowse link
G LOC130067754 ATAC-STARR-seq lymphoblastoid active region 19269 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:47,337,306...47,337,495 JBrowse link
G LOC130067755 ATAC-STARR-seq lymphoblastoid active region 19270 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:48,090,254...48,090,333 JBrowse link
G LOC130067756 ATAC-STARR-seq lymphoblastoid active region 19271 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:48,090,364...48,090,613 JBrowse link
G LOC130067757 ATAC-STARR-seq lymphoblastoid active region 19272 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:48,098,252...48,098,361 JBrowse link
G LOC130067758 ATAC-STARR-seq lymphoblastoid active region 19273 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:48,098,382...48,098,591 JBrowse link
G LOC130067759 ATAC-STARR-seq lymphoblastoid active region 19274 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:48,098,662...48,098,901 JBrowse link
G LOC130067760 ATAC-STARR-seq lymphoblastoid active region 19275 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:48,112,889...48,112,938 JBrowse link
G LOC130067761 ATAC-STARR-seq lymphoblastoid active region 19276 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:48,444,366...48,444,495 JBrowse link
G LOC130067762 ATAC-STARR-seq lymphoblastoid active region 19277 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,052,352...49,052,431 JBrowse link
G LOC130067763 ATAC-STARR-seq lymphoblastoid active region 19279 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,657,701...49,657,800 JBrowse link
G LOC130067764 ATAC-STARR-seq lymphoblastoid silent region 13920 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,670,006...49,670,055 JBrowse link
G LOC130067765 ATAC-STARR-seq lymphoblastoid silent region 13921 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,670,796...49,670,845 JBrowse link
G LOC130067766 ATAC-STARR-seq lymphoblastoid active region 19280 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,760,305...49,760,604 JBrowse link
G LOC130067767 ATAC-STARR-seq lymphoblastoid active region 19281 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,826,338...49,826,537 JBrowse link
G LOC130067768 ATAC-STARR-seq lymphoblastoid silent region 13922 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,827,038...49,827,207 JBrowse link
G LOC130067769 ATAC-STARR-seq lymphoblastoid silent region 13923 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,827,938...49,828,007 JBrowse link
G LOC130067770 ATAC-STARR-seq lymphoblastoid silent region 13924 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,839,036...49,839,085 JBrowse link
G LOC130067771 ATAC-STARR-seq lymphoblastoid silent region 13925 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,853,192...49,853,281 JBrowse link
G LOC130067772 ATAC-STARR-seq lymphoblastoid silent region 13926 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,853,302...49,854,031 JBrowse link
G LOC130067773 ATAC-STARR-seq lymphoblastoid silent region 13927 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,854,202...49,854,491 JBrowse link
G LOC130067774 ATAC-STARR-seq lymphoblastoid active region 19282 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,881,760...49,881,989 JBrowse link
G LOC130067775 ATAC-STARR-seq lymphoblastoid silent region 13928 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,918,028...49,918,227 JBrowse link
G LOC130067776 ATAC-STARR-seq lymphoblastoid silent region 13929 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,918,338...49,918,837 JBrowse link
G LOC130067777 ATAC-STARR-seq lymphoblastoid active region 19284 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,925,341...49,925,570 JBrowse link
G LOC130067778 ATAC-STARR-seq lymphoblastoid active region 19285 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,925,651...49,925,730 JBrowse link
G LOC130067779 ATAC-STARR-seq lymphoblastoid active region 19286 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,925,831...49,925,930 JBrowse link
G LOC130067780 ATAC-STARR-seq lymphoblastoid active region 19287 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,925,941...49,926,070 JBrowse link
G LOC130067781 ATAC-STARR-seq lymphoblastoid silent region 13930 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,929,570...49,929,829 JBrowse link
G LOC130067782 ATAC-STARR-seq lymphoblastoid active region 19288 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,930,566...49,930,615 JBrowse link
G LOC130067783 ATAC-STARR-seq lymphoblastoid silent region 13931 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,934,673...49,934,892 JBrowse link
G LOC130067784 ATAC-STARR-seq lymphoblastoid silent region 13932 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,935,003...49,935,392 JBrowse link
G LOC130067785 ATAC-STARR-seq lymphoblastoid silent region 13935 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,959,745...49,959,804 JBrowse link
G LOC130067786 ATAC-STARR-seq lymphoblastoid silent region 13936 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,959,945...49,960,224 JBrowse link
G LOC130067787 ATAC-STARR-seq lymphoblastoid silent region 13937 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,960,265...49,960,904 JBrowse link
G LOC130067788 ATAC-STARR-seq lymphoblastoid silent region 13938 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,960,955...49,961,104 JBrowse link
G LOC130067789 ATAC-STARR-seq lymphoblastoid silent region 13939 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,961,245...49,961,294 JBrowse link
G LOC130067790 ATAC-STARR-seq lymphoblastoid silent region 13940 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,961,935...49,961,984 JBrowse link
G LOC130067791 ATAC-STARR-seq lymphoblastoid silent region 13941 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,962,115...49,962,634 JBrowse link
G LOC130067792 ATAC-STARR-seq lymphoblastoid active region 19289 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,966,367...49,966,486 JBrowse link
G LOC130067793 ATAC-STARR-seq lymphoblastoid active region 19290 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,966,527...49,966,586 JBrowse link
G LOC130067794 ATAC-STARR-seq lymphoblastoid silent region 13942 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,966,807...49,966,876 JBrowse link
G LOC130067795 ATAC-STARR-seq lymphoblastoid active region 19291 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,968,877...49,968,926 JBrowse link
G LOC130067796 ATAC-STARR-seq lymphoblastoid active region 19292 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,970,771...49,971,030 JBrowse link
G LOC130067797 ATAC-STARR-seq lymphoblastoid silent region 13943 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,971,351...49,972,140 JBrowse link
G LOC130067798 ATAC-STARR-seq lymphoblastoid silent region 13944 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,975,864...49,976,163 JBrowse link
G LOC130067799 ATAC-STARR-seq lymphoblastoid active region 19293 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,976,724...49,976,793 JBrowse link
G LOC130067800 ATAC-STARR-seq lymphoblastoid active region 19294 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,976,934...49,976,983 JBrowse link
G LOC130067801 ATAC-STARR-seq lymphoblastoid active region 19295 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,977,034...49,977,083 JBrowse link
G LOC130067802 ATAC-STARR-seq lymphoblastoid silent region 13945 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,010,756...50,011,075 JBrowse link
G LOC130067803 ATAC-STARR-seq lymphoblastoid silent region 13946 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,011,086...50,011,135 JBrowse link
G LOC130067804 ATAC-STARR-seq lymphoblastoid active region 19296 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,017,301...50,017,360 JBrowse link
G LOC130067805 ATAC-STARR-seq lymphoblastoid silent region 13947 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,030,127...50,030,226 JBrowse link
G LOC130067806 ATAC-STARR-seq lymphoblastoid silent region 13948 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,030,247...50,030,316 JBrowse link
G LOC130067807 ATAC-STARR-seq lymphoblastoid active region 19297 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,105,823...50,105,932 JBrowse link
G LOC130067808 ATAC-STARR-seq lymphoblastoid silent region 13949 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,169,905...50,169,964 JBrowse link
G LOC130067809 ATAC-STARR-seq lymphoblastoid silent region 13950 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,185,086...50,185,155 JBrowse link
G LOC130067810 ATAC-STARR-seq lymphoblastoid silent region 13951 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,185,346...50,185,445 JBrowse link
G LOC130067811 ATAC-STARR-seq lymphoblastoid silent region 13952 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,185,716...50,186,085 JBrowse link
G LOC130067812 ATAC-STARR-seq lymphoblastoid silent region 13953 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,186,352...50,186,661 JBrowse link
G LOC130067813 ATAC-STARR-seq lymphoblastoid silent region 13954 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,187,602...50,187,651 JBrowse link
G LOC130067814 ATAC-STARR-seq lymphoblastoid active region 19298 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,189,200...50,189,269 JBrowse link
G LOC130067815 ATAC-STARR-seq lymphoblastoid active region 19299 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,189,320...50,189,369 JBrowse link
G LOC130067816 ATAC-STARR-seq lymphoblastoid active region 19300 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,189,380...50,189,439 JBrowse link
G LOC130067817 ATAC-STARR-seq lymphoblastoid active region 19302 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,191,200...50,191,419 JBrowse link
G LOC130067818 ATAC-STARR-seq lymphoblastoid active region 19303 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,191,610...50,191,759 JBrowse link
G LOC130067819 ATAC-STARR-seq lymphoblastoid silent region 13955 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,191,910...50,191,959 JBrowse link
G LOC130067820 ATAC-STARR-seq lymphoblastoid active region 19304 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,192,520...50,192,569 JBrowse link
G LOC130067821 ATAC-STARR-seq lymphoblastoid active region 19305 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,192,650...50,192,739 JBrowse link
G LOC130067822 ATAC-STARR-seq lymphoblastoid silent region 13956 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,200,331...50,201,270 JBrowse link
G LOC130067823 ATAC-STARR-seq lymphoblastoid silent region 13957 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,201,401...50,201,480 JBrowse link
G LOC130067824 ATAC-STARR-seq lymphoblastoid active region 19306 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,201,841...50,202,080 JBrowse link
G LOC130067825 ATAC-STARR-seq lymphoblastoid active region 19307 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,241,405...50,241,704 JBrowse link
G LOC130067826 ATAC-STARR-seq lymphoblastoid active region 19309 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,244,806...50,244,855 JBrowse link
G LOC130067827 ATAC-STARR-seq lymphoblastoid silent region 13958 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,245,326...50,245,395 JBrowse link
G LOC130067828 ATAC-STARR-seq lymphoblastoid silent region 13959 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,250,961...50,251,620 JBrowse link
G LOC130067829 ATAC-STARR-seq lymphoblastoid active region 19311 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,252,111...50,252,280 JBrowse link
G LOC130067830 ATAC-STARR-seq lymphoblastoid silent region 13960 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,260,922...50,261,101 JBrowse link
G LOC130067831 ATAC-STARR-seq lymphoblastoid silent region 13961 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,261,252...50,261,621 JBrowse link
G LOC130067832 ATAC-STARR-seq lymphoblastoid silent region 13962 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,261,652...50,261,961 JBrowse link
G LOC130067833 ATAC-STARR-seq lymphoblastoid silent region 13963 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,261,972...50,262,021 JBrowse link
G LOC130067834 ATAC-STARR-seq lymphoblastoid silent region 13964 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,267,783...50,267,852 JBrowse link
G LOC130067835 ATAC-STARR-seq lymphoblastoid silent region 13965 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,269,971...50,270,030 JBrowse link
G LOC130067836 ATAC-STARR-seq lymphoblastoid silent region 13966 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,270,051...50,270,640 JBrowse link
G LOC130067837 ATAC-STARR-seq lymphoblastoid silent region 13968 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,276,305...50,276,374 JBrowse link
G LOC130067838 ATAC-STARR-seq lymphoblastoid silent region 13969 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,292,493...50,292,552 JBrowse link
G LOC130067839 ATAC-STARR-seq lymphoblastoid active region 19312 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,292,673...50,292,722 JBrowse link
G LOC130067840 ATAC-STARR-seq lymphoblastoid silent region 13970 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,301,691...50,301,740 JBrowse link
G LOC130067841 ATAC-STARR-seq lymphoblastoid silent region 13971 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,307,478...50,307,547 JBrowse link
G LOC130067842 ATAC-STARR-seq lymphoblastoid silent region 13972 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,307,558...50,307,757 JBrowse link
G LOC130067843 ATAC-STARR-seq lymphoblastoid silent region 13973 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,307,918...50,307,967 JBrowse link
G LOC130067844 ATAC-STARR-seq lymphoblastoid silent region 13974 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,308,668...50,308,717 JBrowse link
G LOC130067845 ATAC-STARR-seq lymphoblastoid active region 19314 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,314,287...50,314,496 JBrowse link
G LOC130067846 ATAC-STARR-seq lymphoblastoid silent region 13975 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,326,761...50,327,400 JBrowse link
G LOC130067847 ATAC-STARR-seq lymphoblastoid active region 19316 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,334,092...50,334,221 JBrowse link
G LOC130067848 ATAC-STARR-seq lymphoblastoid active region 19317 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,340,803...50,340,852 JBrowse link
G LOC130067849 ATAC-STARR-seq lymphoblastoid silent region 13976 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,342,778...50,342,947 JBrowse link
G LOC130067850 ATAC-STARR-seq lymphoblastoid silent region 13977 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,343,218...50,343,497 JBrowse link
G LOC130067851 ATAC-STARR-seq lymphoblastoid silent region 13978 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,343,508...50,343,587 JBrowse link
G LOC130067852 ATAC-STARR-seq lymphoblastoid active region 19318 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,361,454...50,361,503 JBrowse link
G LOC130067853 ATAC-STARR-seq lymphoblastoid active region 19319 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,444,053...50,444,222 JBrowse link
G LOC130067854 ATAC-STARR-seq lymphoblastoid active region 19320 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,470,738...50,470,797 JBrowse link
G LOC130067855 ATAC-STARR-seq lymphoblastoid silent region 13979 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,474,397...50,474,526 JBrowse link
G LOC130067856 ATAC-STARR-seq lymphoblastoid silent region 13981 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,481,330...50,481,619 JBrowse link
G LOC130067857 ATAC-STARR-seq lymphoblastoid silent region 13982 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,481,670...50,481,789 JBrowse link
G LOC130067858 ATAC-STARR-seq lymphoblastoid active region 19321 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,507,433...50,507,482 JBrowse link
G LOC130067859 ATAC-STARR-seq lymphoblastoid silent region 13983 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,507,703...50,507,802 JBrowse link
G LOC130067860 ATAC-STARR-seq lymphoblastoid silent region 13984 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,508,473...50,508,762 JBrowse link
G LOC130067861 ATAC-STARR-seq lymphoblastoid silent region 13985 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,525,270...50,525,569 JBrowse link
G LOC130067862 ATAC-STARR-seq lymphoblastoid silent region 13986 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,525,780...50,526,609 JBrowse link
G LOC130067863 ATAC-STARR-seq lymphoblastoid active region 19324 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,527,390...50,527,539 JBrowse link
G LOC130067864 ATAC-STARR-seq lymphoblastoid active region 19325 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,529,260...50,529,419 JBrowse link
G LOC130067865 ATAC-STARR-seq lymphoblastoid silent region 13987 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,529,800...50,529,849 JBrowse link
G LOC130067866 ATAC-STARR-seq lymphoblastoid silent region 13988 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,529,860...50,530,709 JBrowse link
G LOC130067867 ATAC-STARR-seq lymphoblastoid silent region 13989 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,530,720...50,530,949 JBrowse link
G LOC130067868 ATAC-STARR-seq lymphoblastoid silent region 13991 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,531,570...50,531,729 JBrowse link
G LOC130067869 ATAC-STARR-seq lymphoblastoid silent region 13992 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,531,810...50,532,019 JBrowse link
G LOC130067870 ATAC-STARR-seq lymphoblastoid silent region 13993 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,532,050...50,532,239 JBrowse link
G LOC130067871 ATAC-STARR-seq lymphoblastoid silent region 13994 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,532,430...50,532,479 JBrowse link
G LOC130067872 ATAC-STARR-seq lymphoblastoid active region 19326 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,539,330...50,539,379 JBrowse link
G LOC130067873 ATAC-STARR-seq lymphoblastoid active region 19328 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,541,142...50,541,221 JBrowse link
G LOC130067874 ATAC-STARR-seq lymphoblastoid active region 19329 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,541,282...50,541,391 JBrowse link
G LOC130067875 ATAC-STARR-seq lymphoblastoid active region 19330 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,542,663...50,542,832 JBrowse link
G LOC130067876 ATAC-STARR-seq lymphoblastoid silent region 13995 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,548,425...50,548,854 JBrowse link
G LOC130067877 ATAC-STARR-seq lymphoblastoid silent region 13996 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,548,935...50,549,094 JBrowse link
G LOC130067878 ATAC-STARR-seq lymphoblastoid silent region 13997 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,562,611...50,563,020 JBrowse link
G LOC130067879 ATAC-STARR-seq lymphoblastoid active region 19331 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,570,165...50,570,234 JBrowse link
G LOC130067880 ATAC-STARR-seq lymphoblastoid silent region 13998 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,577,919...50,577,998 JBrowse link
G LOC130067881 ATAC-STARR-seq lymphoblastoid silent region 13999 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,578,339...50,578,458 JBrowse link
G LOC130067882 ATAC-STARR-seq lymphoblastoid silent region 14000 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,582,346...50,582,545 JBrowse link
G LOC130067883 ATAC-STARR-seq lymphoblastoid silent region 14001 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,582,876...50,582,965 JBrowse link
G LOC130067884 ATAC-STARR-seq lymphoblastoid silent region 14002 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,582,996...50,583,395 JBrowse link
G LOC130067885 ATAC-STARR-seq lymphoblastoid silent region 14003 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,600,203...50,600,382 JBrowse link
G LOC130067886 ATAC-STARR-seq lymphoblastoid active region 19332 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,622,359...50,622,478 JBrowse link
G LOC130067887 ATAC-STARR-seq lymphoblastoid silent region 14004 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,628,047...50,628,236 JBrowse link
G LOC130067888 ATAC-STARR-seq lymphoblastoid active region 19333 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,724,263...50,724,322 JBrowse link
G LOC130067889 ATAC-STARR-seq lymphoblastoid silent region 14005 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,783,568...50,783,807 JBrowse link
G LOC132090652 Neanderthal introgressed variant-containing enhancer experimental_63425 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,137,439...43,137,608 JBrowse link
G LOC132090653 Neanderthal introgressed variant-containing enhancer experimental_63485 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:48,671,156...48,671,325 JBrowse link
G LOC132090654 Neanderthal introgressed variant-containing enhancer experimental_63487 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:48,671,628...48,671,797 JBrowse link
G LOC132090655 Neanderthal introgressed variant-containing enhancer experimental_63573 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:48,940,749...48,940,918 JBrowse link
G LOC132090656 Neanderthal introgressed variant-containing enhancer experimental_63615 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,107,583...49,107,752 JBrowse link
G LOC132090657 Neanderthal introgressed variant-containing enhancer experimental_63692 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,295,289...49,295,458 JBrowse link
G LOC132090923 Neanderthal introgressed variant-containing enhancer experimental_63550 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:48,882,666...48,882,835 JBrowse link
G LOC132090924 Neanderthal introgressed variant-containing enhancer experimental_63621 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,133,635...49,133,804 JBrowse link
G MAPK11 mitogen-activated protein kinase 11 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,263,713...50,270,380
Ensembl chr22:50,263,713...50,270,767 		JBrowse link
G MAPK12 mitogen-activated protein kinase 12 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,252,901...50,261,683
Ensembl chr22:50,245,450...50,261,716 		JBrowse link
G MAPK8IP2 mitogen-activated protein kinase 8 interacting protein 2 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,600,793...50,613,978
Ensembl chr22:50,600,793...50,613,981 		JBrowse link
G MCAT malonyl-CoA-acyl carrier protein transacylase IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,132,206...43,143,398
Ensembl chr22:43,132,209...43,143,398 		JBrowse link
G MIOX myo-inositol oxygenase IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,486,859...50,490,648
Ensembl chr22:50,486,784...50,490,648 		JBrowse link
G MIR12114 microRNA 12114 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,407,442...50,407,524 JBrowse link
G MIR1249 microRNA 1249 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,200,954...45,201,019
Ensembl chr22:45,200,954...45,201,019 		JBrowse link
G MIR3201 microRNA 3201 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:48,274,364...48,274,415
Ensembl chr22:48,274,364...48,274,415 		JBrowse link
G MIR3619 microRNA 3619 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,091,044...46,091,126
Ensembl chr22:46,091,044...46,091,126 		JBrowse link
G MIR3667 microRNA 3667 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,543,393...49,543,466
Ensembl chr22:49,543,393...49,543,466 		JBrowse link
G MIR3667HG MIR3667 host gene IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,414,524...49,657,519
Ensembl chr22:49,414,523...49,658,432 		JBrowse link
G MIR4535 microRNA 4535 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:48,780,295...48,780,353
Ensembl chr22:48,780,295...48,780,353 		JBrowse link
G MIR4762 microRNA 4762 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,760,524...45,760,598
Ensembl chr22:45,760,524...45,760,598 		JBrowse link
G MIR4763 microRNA 4763 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,113,566...46,113,657
Ensembl chr22:46,113,566...46,113,657 		JBrowse link
G MIR6821 microRNA 6821 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,962,866...49,962,939
Ensembl chr22:49,962,866...49,962,939 		JBrowse link
G MIRLET7A3 microRNA let-7a-3 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,112,749...46,112,822
Ensembl chr22:46,112,749...46,112,822 		JBrowse link
G MIRLET7B microRNA let-7b IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,113,686...46,113,768
Ensembl chr22:46,113,686...46,113,768 		JBrowse link
G MIRLET7BHG MIRLET7B host gene IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,085,997...46,113,928
Ensembl chr22:46,044,913...46,116,382 		JBrowse link
G MLC1 modulator of VRAC current 1 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,059,391...50,085,875
Ensembl chr22:50,059,391...50,085,426 		JBrowse link
G MOV10L1 Mov10 like RNA helicase 1 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,090,006...50,161,687
Ensembl chr22:50,090,006...50,161,690 		JBrowse link
G MPPED1 metallophosphoesterase domain containing 1 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,412,014...43,507,848
Ensembl chr22:43,411,196...43,507,848 		JBrowse link
G NCAPH2 non-SMC condensin II complex subunit H2 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,508,224...50,524,780
Ensembl chr22:50,508,224...50,524,780 		JBrowse link
G NHIP neuronal hypoxia inducible, placenta associated IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,043,919...49,052,385
Ensembl chr22:49,043,919...49,052,549 		JBrowse link
G NUP50 nucleoporin 50 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,163,925...45,188,017
Ensembl chr22:45,163,925...45,188,017 		JBrowse link
G NUP50-DT NUP50 divergent transcript IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,133,758...45,163,781
Ensembl chr22:45,133,020...45,163,862 		JBrowse link
G PANX2 pannexin 2 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,170,731...50,180,295
Ensembl chr22:50,170,731...50,180,295 		JBrowse link
G PARVB parvin beta IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,999,211...44,172,939
Ensembl chr22:43,999,211...44,172,939 		JBrowse link
G PARVG parvin gamma IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,172,951...44,208,469
Ensembl chr22:44,172,956...44,219,533 		JBrowse link
G PHF21B PHD finger protein 21B IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,881,162...45,010,005
Ensembl chr22:44,881,162...45,010,005 		JBrowse link
G PIM3 Pim-3 proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,960,772...49,964,072
Ensembl chr22:49,960,768...49,964,072 		JBrowse link
G PKDREJ polycystin family receptor for egg jelly IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,255,663...46,263,343
Ensembl chr22:46,255,663...46,263,343 		JBrowse link
G PLXNB2 plexin B2 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,274,979...50,307,646
Ensembl chr22:50,274,979...50,307,646 		JBrowse link
G PNPLA3 patatin like phospholipase domain containing 3 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,923,805...43,947,582
Ensembl chr22:43,923,792...43,964,488 		JBrowse link
G PNPLA5 patatin like phospholipase domain containing 5 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,879,678...43,892,013
Ensembl chr22:43,879,678...43,892,013 		JBrowse link
G PPARA peroxisome proliferator activated receptor alpha IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,150,526...46,243,756
Ensembl chr22:46,150,521...46,243,755 		JBrowse link
G PPP6R2 protein phosphatase 6 regulatory subunit 2 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,330,774...50,445,090
Ensembl chr22:50,343,304...50,445,090 		JBrowse link
G PRR34 PRR34 long non-coding RNA IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,048,531...46,054,225
Ensembl chr22:46,049,478...46,054,144 		JBrowse link
G PRR34-AS1 PRR34 antisense RNA 1 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,053,846...46,058,522
Ensembl chr22:46,053,705...46,057,210 		JBrowse link
G PRR5 proline rich 5 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,668,751...44,737,681
Ensembl chr22:44,668,547...44,737,681 		JBrowse link
G PRR5-ARHGAP8 PRR5-ARHGAP8 readthrough IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,702,204...44,862,784
Ensembl chr22:44,702,233...44,862,706 		JBrowse link
G RABL2B RAB, member of RAS oncogene family like 2B IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,767,506...50,783,636
Ensembl chr22:50,767,501...50,783,667 		JBrowse link
G RIBC2 RIB43A domain with coiled-coils 2 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,413,693...45,432,509
Ensembl chr22:45,413,693...45,432,509 		JBrowse link
G RTL6 retrotransposon Gag like 6 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,492,583...44,498,233
Ensembl chr22:44,492,583...44,498,233 		JBrowse link
G SAMM50 SAMM50 sorting and assembly machinery component IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,955,442...43,996,529
Ensembl chr22:43,955,442...44,010,531 		JBrowse link
G SBF1 SET binding factor 1 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,445,000...50,475,035
Ensembl chr22:50,443,219...50,483,923 		JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461 		JBrowse link
G SCUBE1 signal peptide, CUB domain and EGF like domain containing 1 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,197,280...43,343,372
Ensembl chr22:43,197,280...43,343,372 		JBrowse link
G SCUBE1-AS1 SCUBE1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,275,942...43,283,830
Ensembl chr22:43,275,955...43,283,830 		JBrowse link
G SCUBE1-AS2 SCUBE1 antisense RNA 2 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,212,674...43,213,661
Ensembl chr22:43,212,674...43,213,661 		JBrowse link
G SELENOO selenoprotein O IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,201,011...50,217,616
Ensembl chr22:50,201,011...50,217,616 		JBrowse link
G SELENOO-AS1 SELENOO antisense RNA 1 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,205,581...50,210,181 JBrowse link
G SHANK3 SH3 and multiple ankyrin repeat domains 3 IAGP
ISS
ISO
EXP		 ClinVar Annotator: match by term: Phelan-McDermid syndrome
OMIM:606232
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
OMIM
CTD
RGD		 PMID:16284256 PMID:17173049 PMID:20301377 PMID:21062623 PMID:22892527 More... RGD:41404704 NCBI chr22:50,672,823...50,733,212
Ensembl chr22:50,674,408...50,733,212 		JBrowse link
G SHISAL1 shisa like 1 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,243,665...44,331,714
Ensembl chr22:44,243,665...44,312,951 		JBrowse link
G SMC1B structural maintenance of chromosomes 1B IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,344,063...45,413,599
Ensembl chr22:45,344,063...45,413,619 		JBrowse link
G SULT4A1 sulfotransferase family 4A member 1 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,824,509...43,862,513
Ensembl chr22:43,824,509...43,862,513 		JBrowse link
G SYCE3 synaptonemal complex central element protein 3 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,551,112...50,562,919
Ensembl chr22:50,551,112...50,562,919 		JBrowse link
G TAFA5 TAFA chemokine like family member 5 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:48,489,553...48,751,932
Ensembl chr22:48,489,553...48,850,912 		JBrowse link
G TBC1D22A TBC1 domain family member 22A IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,762,650...47,175,699
Ensembl chr22:46,762,617...47,175,699 		JBrowse link
G TBC1D22A-AS1 TBC1D22A antisense RNA 1 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,914,092...46,916,042
Ensembl chr22:46,914,092...46,916,042 		JBrowse link
G TBC1D22A-DT TBC1D22A divergent transcript IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,761,911...46,762,528
Ensembl chr22:46,761,879...46,762,613 		JBrowse link
G TCF20 transcription factor 20 ISS OMIM:606232 MouseDO NCBI chr22:42,160,013...42,343,537
Ensembl chr22:42,160,013...42,343,616 		JBrowse link
G TRABD TraB domain containing IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,185,913...50,199,595
Ensembl chr22:50,185,913...50,199,598 		JBrowse link
G TRABD-AS1 TRABD antisense RNA 1 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,199,088...50,200,783
Ensembl chr22:50,199,049...50,201,596 		JBrowse link
G TRMU tRNA mitochondrial 2-thiouridylase IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,335,714...46,357,340
Ensembl chr22:46,330,875...46,357,340 		JBrowse link
G TRU-TCA2-1 tRNA-SeC (anticodon TCA) 2-1 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:44,150,657...44,150,740 JBrowse link
G TSPO translocator protein IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,151,559...43,163,242
Ensembl chr22:43,151,547...43,163,242 		JBrowse link
G TTC38 tetratricopeptide repeat domain 38 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:46,268,008...46,294,008
Ensembl chr22:46,267,961...46,294,008 		JBrowse link
G TTLL1 TTL family tubulin polyglutamylase complex subunit L1 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,039,516...43,089,391
Ensembl chr22:43,039,516...43,089,419 		JBrowse link
G TTLL1-AS1 TTLL1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,038,585...43,052,366
Ensembl chr22:43,015,375...43,058,506 		JBrowse link
G TTLL12 tubulin tyrosine ligase like 12 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:43,166,622...43,187,134
Ensembl chr22:43,166,622...43,187,134 		JBrowse link
G TTLL8 tubulin tyrosine ligase like 8 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,018,575...50,058,298
Ensembl chr22:50,018,575...50,058,298 		JBrowse link
G TUBGCP6 tubulin gamma complex component 6 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,217,694...50,245,023
Ensembl chr22:50,217,689...50,245,023 		JBrowse link
G TYMP thymidine phosphorylase IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032 		JBrowse link
G UPK3A uroplakin 3A IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,284,949...45,295,874
Ensembl chr22:45,284,949...45,295,874 		JBrowse link
G WNT7B Wnt family member 7B IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:45,920,366...45,977,162
Ensembl chr22:45,920,366...45,977,162 		JBrowse link
G Z82186.1 novel transcript IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:47,345,571...47,373,541
Ensembl chr22:47,345,569...47,373,541 		JBrowse link
G Z84468.1 novel transcript IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:48,538,900...48,547,387
Ensembl chr22:48,538,900...48,547,387 		JBrowse link
G ZBED4 zinc finger BED-type containing 4 IAGP ClinVar Annotator: match by term: Phelan-McDermid syndrome ClinVar NCBI chr22:49,852,850...49,890,080
Ensembl chr22:49,853,844...49,897,383 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 146647
    syndrome 38755
      chromosomal deletion syndrome 5253
        Phelan-McDermid syndrome 478
Path 2
Term Annotations click to browse term
  disease 146647
    Pathological Conditions, Signs and Symptoms 69213
      Pathologic Processes 34383
        Chromosome Aberrations 7119
          Aneuploidy 5731
            Monosomy 5422
              Chromosome Deletion 5422
                chromosomal deletion syndrome 5253
                  Phelan-McDermid syndrome 478
paths to the root