Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:autosomal dominant intellectual developmental disorder 31
go back to main search page
Accession:DOID:0070061 term browser browse the term
Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PURA gene on chromosome 5q31.3. (DO)
Synonyms:exact_synonym: GLOBAL DEVELOPMENTAL DELAY-VISUAL ANOMALIES-PROGRESSIVE CEREBELLAR ATROPHY-TRUNCAL HYPOTONIA SYNDROME;   MRD31;   NEDRIHF;   PURA SYNDROME;   PURA-RELATED SEVERE NEONATAL HYPOTONIA-SEIZURES-ENCEPHALOPATHY SYNDROME DUE TO A POINT MUTATION;   autosomal dominant mental retardation 31;   autosomal dominant non-syndromic intellectual disability 31;   neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties
 xref: MIM:616158;   MONDO:0014512;   ORDO:438216


GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
autosomal dominant intellectual developmental disorder 31 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apbb3 amyloid beta precursor protein binding family B member 3 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:33,322,496...33,328,567
Ensembl chrNW_004624743:33,322,792...33,328,391
JBrowse link
G Brd8 bromodomain containing 8 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:30,950,790...30,994,655
Ensembl chrNW_004624743:30,961,646...30,994,559
JBrowse link
G Cd14 CD14 molecule ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:33,372,023...33,374,438
Ensembl chrNW_004624743:33,367,898...33,373,922
JBrowse link
G Cdc23 cell division cycle 23 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:31,012,262...31,036,639
Ensembl chrNW_004624743:31,012,720...31,036,762
JBrowse link
G Cdc25c cell division cycle 25C ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:31,099,320...31,123,808
Ensembl chrNW_004624743:31,099,268...31,124,262
JBrowse link
G Ctnna1 catenin alpha 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:31,512,481...31,700,340 JBrowse link
G Cxxc5 CXXC finger protein 5 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:32,450,612...32,485,249
Ensembl chrNW_004624743:32,450,819...32,486,293
JBrowse link
G Cystm1 cysteine rich transmembrane module containing 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:32,965,075...33,011,472
Ensembl chrNW_004624743:32,965,527...33,011,361
JBrowse link
G Diaph1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624774:738,717...845,187
Ensembl chrNW_004624774:739,206...845,272
JBrowse link
G Dnajc18 DnaJ heat shock protein family (Hsp40) member C18 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:32,214,111...32,239,323
Ensembl chrNW_004624743:32,217,570...32,239,369
JBrowse link
G Dnd1 DND microRNA-mediated repression inhibitor 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:33,421,810...33,424,515
Ensembl chrNW_004624743:33,421,810...33,424,635
JBrowse link
G Ecscr endothelial cell surface expressed chemotaxis and apoptosis regulator ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:32,248,768...32,272,352
Ensembl chrNW_004624743:32,246,966...32,256,617
JBrowse link
G Egr1 early growth response 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:31,247,855...31,251,675
Ensembl chrNW_004624743:31,247,516...31,252,205
JBrowse link
G Etf1 eukaryotic translation termination factor 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:31,280,547...31,313,086 JBrowse link
G Fam13b family with sequence similarity 13 member B ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:30,772,973...30,852,503 JBrowse link
G Gfra3 GDNF family receptor alpha 3 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:31,079,591...31,095,595
Ensembl chrNW_004624743:31,074,302...31,096,301
JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:33,424,705...33,435,767
Ensembl chrNW_004624743:33,423,342...33,435,721
JBrowse link
G Hars2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:33,435,777...33,443,036
Ensembl chrNW_004624743:33,435,806...33,443,227
JBrowse link
G Hbegf heparin binding EGF like growth factor ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:33,112,105...33,124,145
Ensembl chrNW_004624743:33,112,036...33,124,169
JBrowse link
G Hnrnpa0 heterogeneous nuclear ribonucleoprotein A0 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624733:9,265,784...9,271,559
Ensembl chrNW_004624733:9,266,607...9,267,527
JBrowse link
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:31,324,085...31,345,681
Ensembl chrNW_004624743:31,324,085...31,345,695
JBrowse link
G Igip IgA inducing protein ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:32,894,082...32,899,173 JBrowse link
G Ik IK cytokine ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:33,400,359...33,413,993
Ensembl chrNW_004624743:33,400,459...33,413,993
JBrowse link
G Kdm3b lysine demethylase 3B ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:31,148,051...31,224,896
Ensembl chrNW_004624743:31,148,098...31,225,992
JBrowse link
G Kif20a kinesin family member 20A ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:30,994,664...31,003,858
Ensembl chrNW_004624743:30,995,526...31,011,396
JBrowse link
G Klhl3 kelch like family member 3 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624733:9,299,217...9,413,390
Ensembl chrNW_004624733:9,299,229...9,413,469
JBrowse link
G Lrrtm2 leucine rich repeat transmembrane neuronal 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:31,648,543...31,651,772
Ensembl chrNW_004624743:31,644,209...31,651,688
JBrowse link
G Matr3 matrin 3 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:32,086,821...32,147,079
Ensembl chrNW_004624743:32,115,544...32,146,921
JBrowse link
G Myot myotilin ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624733:9,131,051...9,160,813
Ensembl chrNW_004624733:9,130,399...9,160,908
JBrowse link
G Mzb1 marginal zone B and B1 cell specific protein ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:32,192,264...32,194,848
Ensembl chrNW_004624743:32,192,251...32,194,376
JBrowse link
G Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:33,398,027...33,400,346
Ensembl chrNW_004624743:33,398,027...33,400,271
JBrowse link
G Nme5 NME/NM23 family member 5 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:30,925,210...30,950,129
Ensembl chrNW_004624743:30,925,445...30,950,114
JBrowse link
G Nrg2 neuregulin 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:32,620,025...32,810,990
Ensembl chrNW_004624743:32,620,295...32,810,391
JBrowse link
G Paip2 poly(A) binding protein interacting protein 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:32,152,007...32,171,111 JBrowse link
G Pcdhac1 protocadherin alpha subfamily C, 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624774:216,504...219,816 JBrowse link
G Pcdhb1 protocadherin beta 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624774:344,785...347,744
Ensembl chrNW_004624774:344,942...347,398
JBrowse link
G Pcdhb2 protocadherin beta 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624774:377,247...382,096 JBrowse link
G Pcdhgb7 protocadherin gamma subfamily B, 7 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624774:655,090...657,077 JBrowse link
G Pfdn1 prefoldin subunit 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:33,012,920...33,083,776
Ensembl chrNW_004624743:33,012,922...33,083,654
JBrowse link
G Pkd2l2 polycystin 2 like 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:30,743,052...30,770,985
Ensembl chrNW_004624743:30,743,052...30,771,305
JBrowse link
G Prob1 proline rich basic protein 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:32,195,026...32,199,784
Ensembl chrNW_004624743:32,196,485...32,199,499
JBrowse link
G Psd2 pleckstrin and Sec7 domain containing 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:32,572,976...32,616,922
Ensembl chrNW_004624743:32,573,044...32,616,864
JBrowse link
G Pura purine rich element binding protein A ISO ClinVar Annotator: match by term: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES | ClinVar Annotator: match by term: PURA Syndrome | ClinVar Annotator: match by term: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation OMIM
ClinVar
PMID:9461080 PMID:12818205 PMID:12955720 PMID:19846792 PMID:20301788 More... NCBI chrNW_004624743:32,878,677...32,888,650
Ensembl chrNW_004624743:32,884,552...32,885,517
JBrowse link
G Reep2 receptor accessory protein 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:31,226,744...31,233,030
Ensembl chrNW_004624743:31,226,825...31,235,343
JBrowse link
G Sil1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:31,709,989...32,015,770
Ensembl chrNW_004624743:31,708,423...31,935,257
JBrowse link
G Slc23a1 solute carrier family 23 member 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:32,169,051...32,186,618
Ensembl chrNW_004624743:32,174,922...32,186,697
JBrowse link
G Slc25a2 solute carrier family 25 member 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624774:540,820...542,200
Ensembl chrNW_004624774:541,115...542,020
JBrowse link
G Slc35a4 solute carrier family 35 member A4 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:33,331,276...33,333,192
Ensembl chrNW_004624743:33,331,326...33,332,300
JBrowse link
G Slc4a9 solute carrier family 4 member 9 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:33,137,588...33,165,882
Ensembl chrNW_004624743:33,137,641...33,151,287
JBrowse link
G Spata24 spermatogenesis associated 24 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:32,201,285...32,207,197
Ensembl chrNW_004624743:32,201,286...32,207,177
JBrowse link
G Spock1 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624733:9,556,024...10,080,703
Ensembl chrNW_004624733:9,556,763...10,080,703
JBrowse link
G Sra1 steroid receptor RNA activator 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:33,314,878...33,322,297
Ensembl chrNW_004624743:33,315,236...33,321,795
JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:32,277,197...32,283,346
Ensembl chrNW_004624743:32,273,385...32,283,235
JBrowse link
G Taf7 TATA-box binding protein associated factor 7 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624774:548,072...550,410
Ensembl chrNW_004624774:548,072...550,404
JBrowse link
G Tmco6 transmembrane and coiled-coil domains 6 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:33,383,047...33,398,774
Ensembl chrNW_004624743:33,382,973...33,401,509
JBrowse link
G Ube2d2 ubiquitin conjugating enzyme E2 D2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:32,338,864...32,426,220
Ensembl chrNW_004624743:32,338,821...32,425,478
JBrowse link
G Wdr55 WD repeat domain 55 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:33,416,212...33,421,861
Ensembl chrNW_004624743:33,415,984...33,422,107
JBrowse link
G Wnt8a Wnt family member 8A ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:30,852,463...30,896,443
Ensembl chrNW_004624743:30,890,359...30,895,682
JBrowse link
G Zmat2 zinc finger matrin-type 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chrNW_004624743:33,444,432...33,451,490 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14230
    Developmental Disease 12518
      Neurodevelopmental Disorders 6263
        intellectual disability 3976
          autosomal dominant intellectual developmental disorder 415
            autosomal dominant intellectual developmental disorder 31 59
Path 2
Term Annotations click to browse term
  disease 14230
    disease of anatomical entity 13932
      nervous system disease 12270
        central nervous system disease 10995
          brain disease 10311
            disease of mental health 7393
              developmental disorder of mental health 5034
                specific developmental disorder 4166
                  intellectual disability 3976
                    autosomal dominant intellectual developmental disorder 415
                      autosomal dominant intellectual developmental disorder 31 59
paths to the root