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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:autosomal dominant intellectual developmental disorder 31
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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
 primary_id: OMIM:616158


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autosomal dominant intellectual developmental disorder 31 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKHD1 ankyrin repeat and KH domain containing 1 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:140,401,833...140,539,849
Ensembl chr 5:140,401,814...140,539,856 		JBrowse link
G ANKHD1-EIF4EBP3 ANKHD1-EIF4EBP3 readthrough IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:140,401,833...140,549,576
Ensembl chr 5:140,401,908...140,549,569 		JBrowse link
G APBB3 amyloid beta precursor protein binding family B member 3 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:140,558,268...140,564,598
Ensembl chr 5:140,558,268...140,564,781 		JBrowse link
G BRD8 bromodomain containing 8 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:138,139,770...138,178,630
Ensembl chr 5:138,139,770...138,178,953 		JBrowse link
G CD14 CD14 molecule IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:140,631,732...140,633,701
Ensembl chr 5:140,631,728...140,633,700 		JBrowse link
G CDC23 cell division cycle 23 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:138,187,650...138,213,323
Ensembl chr 5:138,187,650...138,213,343 		JBrowse link
G CDC25C cell division cycle 25C IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:138,285,265...138,338,355
Ensembl chr 5:138,285,269...138,338,355 		JBrowse link
G CTNNA1 catenin alpha 1 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:138,753,425...138,935,034
Ensembl chr 5:138,610,967...138,935,034 		JBrowse link
G CXXC5 CXXC finger protein 5 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:139,647,299...139,683,882
Ensembl chr 5:139,647,299...139,683,882 		JBrowse link
G CYSTM1 cysteine rich transmembrane module containing 1 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:140,175,188...140,243,789
Ensembl chr 5:140,175,156...140,282,052 		JBrowse link
G DIAPH1 diaphanous related formin 1 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,515,021...141,619,000
Ensembl chr 5:141,515,016...141,619,055 		JBrowse link
G DNAJC18 DnaJ heat shock protein family (Hsp40) member C18 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:139,410,203...139,439,525
Ensembl chr 5:139,408,588...139,444,491 		JBrowse link
G DND1 DND microRNA-mediated repression inhibitor 1 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:140,670,794...140,673,576
Ensembl chr 5:140,670,794...140,673,576 		JBrowse link
G ECSCR endothelial cell surface expressed chemotaxis and apoptosis regulator IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:139,448,560...139,462,743
Ensembl chr 5:139,448,560...139,462,743 		JBrowse link
G EGR1 early growth response 1 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:138,465,479...138,469,303
Ensembl chr 5:138,465,479...138,469,303 		JBrowse link
G EIF4EBP3 eukaryotic translation initiation factor 4E binding protein 3 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:140,547,662...140,549,576
Ensembl chr 5:140,547,662...140,549,576 		JBrowse link
G ETF1 eukaryotic translation termination factor 1 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:138,506,095...138,543,236
Ensembl chr 5:138,506,095...138,543,236 		JBrowse link
G FAM13B family with sequence similarity 13 member B IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:137,937,960...138,052,178
Ensembl chr 5:137,937,960...138,051,961 		JBrowse link
G FAM53C family with sequence similarity 53 member C IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:138,337,557...138,349,729
Ensembl chr 5:138,331,935...138,349,729 		JBrowse link
G GFRA3 GDNF family receptor alpha 3 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:138,252,380...138,274,621
Ensembl chr 5:138,252,380...138,274,621 		JBrowse link
G HARS1 histidyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:140,673,905...140,691,370
Ensembl chr 5:140,673,035...140,691,537 		JBrowse link
G HARS2 histidyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:140,691,455...140,699,305
Ensembl chr 5:140,691,430...140,699,305 		JBrowse link
G HBEGF heparin binding EGF like growth factor IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:140,332,843...140,346,603
Ensembl chr 5:140,332,843...140,346,603 		JBrowse link
G HNRNPA0 heterogeneous nuclear ribonucleoprotein A0 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:137,745,651...137,754,363
Ensembl chr 5:137,745,651...137,754,363 		JBrowse link
G HSPA9 heat shock protein family A (Hsp70) member 9 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:138,553,756...138,575,401
Ensembl chr 5:138,553,756...138,575,675 		JBrowse link
G IGIP IgA inducing protein IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:140,125,937...140,129,392
Ensembl chr 5:140,125,937...140,129,392 		JBrowse link
G IK IK cytokine IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:140,647,829...140,662,480
Ensembl chr 5:140,647,058...140,662,480 		JBrowse link
G KDM3B lysine demethylase 3B IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:138,352,685...138,437,027
Ensembl chr 5:138,352,685...138,437,028 		JBrowse link
G KIF20A kinesin family member 20A IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:138,179,112...138,187,723
Ensembl chr 5:138,178,719...138,187,723 		JBrowse link
G KLHL3 kelch like family member 3 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:137,617,500...137,736,089
Ensembl chr 5:137,617,500...137,736,089 		JBrowse link
G LOC129994826 ATAC-STARR-seq lymphoblastoid active region 23260 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES | ClinVar Annotator: match by term: PURA Syndrome		 ClinVar PMID:25342064 PMID:25741868 PMID:27148565 PMID:28492532 PMID:29097605 More...
G LRRTM2 leucine rich repeat transmembrane neuronal 2 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:138,868,921...138,875,335
Ensembl chr 5:138,868,921...138,875,368 		JBrowse link
G MATR3 matrin 3 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:139,274,101...139,331,677
Ensembl chr 5:139,273,752...139,331,671
Ensembl chr 5:139,273,752...139,331,671 		JBrowse link
G MYOT myotilin IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:137,867,860...137,887,851
Ensembl chr 5:137,867,858...137,887,851 		JBrowse link
G MZB1 marginal zone B and B1 cell specific protein IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:139,387,467...139,389,913
Ensembl chr 5:139,387,467...139,390,081 		JBrowse link
G NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:140,645,285...140,647,630
Ensembl chr 5:140,638,740...140,647,771 		JBrowse link
G NME5 NME/NM23 family member 5 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:138,115,175...138,139,428
Ensembl chr 5:138,115,175...138,139,443 		JBrowse link
G NRG2 neuregulin 2 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:139,846,781...140,043,299
Ensembl chr 5:139,846,779...140,043,299 		JBrowse link
G PAIP2 poly(A) binding protein interacting protein 2 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:139,341,854...139,369,717
Ensembl chr 5:139,341,587...139,369,720 		JBrowse link
G PCDHA1 protocadherin alpha 1 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:140,786,136...141,012,347
Ensembl chr 5:140,786,136...141,012,347 		JBrowse link
G PCDHA10 protocadherin alpha 10 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:140,855,897...141,012,347
Ensembl chr 5:140,855,883...141,012,347 		JBrowse link
G PCDHA11 protocadherin alpha 11 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:140,867,513...141,012,347
Ensembl chr 5:140,868,183...141,012,347 		JBrowse link
G PCDHA12 protocadherin alpha 12 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:140,875,308...141,012,347
Ensembl chr 5:140,875,302...141,012,347 		JBrowse link
G PCDHA13 protocadherin alpha 13 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:140,882,124...141,012,347
Ensembl chr 5:140,882,124...141,012,347 		JBrowse link
G PCDHA2 protocadherin alpha 2 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:140,794,852...141,012,347
Ensembl chr 5:140,794,852...141,012,347 		JBrowse link
G PCDHA3 protocadherin alpha 3 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:140,801,057...141,012,347
Ensembl chr 5:140,801,028...141,012,347 		JBrowse link
G PCDHA4 protocadherin alpha 4 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:140,807,068...141,012,347
Ensembl chr 5:140,807,037...141,012,347 		JBrowse link
G PCDHA5 protocadherin alpha 5 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:140,821,613...141,012,347
Ensembl chr 5:140,821,604...141,012,347 		JBrowse link
G PCDHA6 protocadherin alpha 6 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:140,827,960...141,012,347
Ensembl chr 5:140,827,958...141,012,347 		JBrowse link
G PCDHA7 protocadherin alpha 7 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:140,834,269...141,012,347
Ensembl chr 5:140,834,248...141,012,347 		JBrowse link
G PCDHA8 protocadherin alpha 8 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:140,841,187...141,012,347
Ensembl chr 5:140,841,187...141,012,347 		JBrowse link
G PCDHA9 protocadherin alpha 9 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:140,847,772...141,012,347
Ensembl chr 5:140,847,772...141,012,347 		JBrowse link
G PCDHA@ protocadherin alpha cluster, complex locus IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:140,786,136...141,012,344 JBrowse link
G PCDHAC1 protocadherin alpha subfamily C, 1 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:140,926,299...141,012,347
Ensembl chr 5:140,926,299...141,012,347 		JBrowse link
G PCDHAC2 protocadherin alpha subfamily C, 2 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:140,966,476...141,012,347
Ensembl chr 5:140,966,470...141,012,347 		JBrowse link
G PCDHB1 protocadherin beta 1 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,051,374...141,059,346
Ensembl chr 5:141,051,374...141,059,346 		JBrowse link
G PCDHB10 protocadherin beta 10 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,192,353...141,195,647
Ensembl chr 5:141,192,353...141,195,647 		JBrowse link
G PCDHB11 protocadherin beta 11 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,199,627...141,203,779
Ensembl chr 5:141,199,610...141,203,779 		JBrowse link
G PCDHB12 protocadherin beta 12 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,208,719...141,212,571
Ensembl chr 5:141,208,697...141,212,571 		JBrowse link
G PCDHB13 protocadherin beta 13 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,213,919...141,218,979
Ensembl chr 5:141,213,919...141,218,979 		JBrowse link
G PCDHB14 protocadherin beta 14 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,223,343...141,227,759
Ensembl chr 5:141,223,343...141,227,759 		JBrowse link
G PCDHB15 protocadherin beta 15 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,245,395...141,249,365
Ensembl chr 5:141,245,395...141,249,365 		JBrowse link
G PCDHB16 protocadherin beta 16 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,182,387...141,186,226
Ensembl chr 5:141,182,387...141,186,226 		JBrowse link
G PCDHB2 protocadherin beta 2 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,094,615...141,098,703
Ensembl chr 5:141,094,606...141,098,703 		JBrowse link
G PCDHB3 protocadherin beta 3 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,100,473...141,103,827
Ensembl chr 5:141,100,473...141,103,827 		JBrowse link
G PCDHB4 protocadherin beta 4 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,121,818...141,125,623
Ensembl chr 5:141,121,818...141,125,623 		JBrowse link
G PCDHB5 protocadherin beta 5 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,135,206...141,138,615
Ensembl chr 5:141,135,206...141,138,615 		JBrowse link
G PCDHB6 protocadherin beta 6 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,150,057...141,153,287
Ensembl chr 5:141,150,057...141,153,287 		JBrowse link
G PCDHB7 protocadherin beta 7 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,172,644...141,176,383
Ensembl chr 5:141,172,644...141,176,383 		JBrowse link
G PCDHB8 protocadherin beta 8 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,177,790...141,180,539
Ensembl chr 5:141,177,790...141,182,369 		JBrowse link
G PCDHB9 protocadherin beta 9 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,187,161...141,191,541
Ensembl chr 5:141,187,127...141,191,541 		JBrowse link
G PCDHB@ protocadherin beta cluster IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,051,394...141,248,234 JBrowse link
G PCDHGA1 protocadherin gamma subfamily A, 1 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,330,514...141,512,975
Ensembl chr 5:141,330,514...141,512,975 		JBrowse link
G PCDHGA10 protocadherin gamma subfamily A, 10 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,412,987...141,512,975
Ensembl chr 5:141,412,987...141,512,975 		JBrowse link
G PCDHGA11 protocadherin gamma subfamily A, 11 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,421,051...141,512,975
Ensembl chr 5:141,421,047...141,512,975 		JBrowse link
G PCDHGA12 protocadherin gamma subfamily A, 12 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,430,507...141,512,975
Ensembl chr 5:141,430,507...141,512,975 		JBrowse link
G PCDHGA2 protocadherin gamma subfamily A, 2 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,338,760...141,512,975
Ensembl chr 5:141,338,760...141,512,975 		JBrowse link
G PCDHGA3 protocadherin gamma subfamily A, 3 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,343,829...141,512,975
Ensembl chr 5:141,343,829...141,512,975 		JBrowse link
G PCDHGA4 protocadherin gamma subfamily A, 4 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,355,021...141,512,975
Ensembl chr 5:141,355,021...141,512,975 		JBrowse link
G PCDHGA5 protocadherin gamma subfamily A, 5 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,364,162...141,512,975
Ensembl chr 5:141,364,162...141,512,975 		JBrowse link
G PCDHGA6 protocadherin gamma subfamily A, 6 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,373,891...141,512,975
Ensembl chr 5:141,373,891...141,512,975 		JBrowse link
G PCDHGA7 protocadherin gamma subfamily A, 7 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,382,742...141,512,975
Ensembl chr 5:141,382,739...141,512,975 		JBrowse link
G PCDHGA8 protocadherin gamma subfamily A, 8 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,392,633...141,512,975
Ensembl chr 5:141,390,157...141,512,975 		JBrowse link
G PCDHGA9 protocadherin gamma subfamily A, 9 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,402,778...141,512,975
Ensembl chr 5:141,402,778...141,512,975 		JBrowse link
G PCDHGB1 protocadherin gamma subfamily B, 1 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,350,099...141,512,975
Ensembl chr 5:141,350,099...141,512,975 		JBrowse link
G PCDHGB2 protocadherin gamma subfamily B, 2 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,359,994...141,512,975
Ensembl chr 5:141,359,994...141,512,975 		JBrowse link
G PCDHGB3 protocadherin gamma subfamily B, 3 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,370,242...141,512,975
Ensembl chr 5:141,370,242...141,512,975 		JBrowse link
G PCDHGB4 protocadherin gamma subfamily B, 4 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,387,698...141,512,975
Ensembl chr 5:141,387,698...141,512,975 		JBrowse link
G PCDHGB5 protocadherin gamma subfamily B, 5 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,397,947...141,512,975
Ensembl chr 5:141,397,947...141,512,975 		JBrowse link
G PCDHGB6 protocadherin gamma subfamily B, 6 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,408,021...141,512,975
Ensembl chr 5:141,408,021...141,512,975 		JBrowse link
G PCDHGB7 protocadherin gamma subfamily B, 7 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,417,677...141,512,975
Ensembl chr 5:141,417,645...141,512,975 		JBrowse link
G PCDHGC3 protocadherin gamma subfamily C, 3 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,475,966...141,512,975
Ensembl chr 5:141,475,947...141,512,977 		JBrowse link
G PCDHGC4 protocadherin gamma subfamily C, 4 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,485,030...141,512,975
Ensembl chr 5:141,484,997...141,512,975 		JBrowse link
G PCDHGC5 protocadherin gamma subfamily C, 5 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,489,081...141,512,975
Ensembl chr 5:141,489,081...141,512,975 		JBrowse link
G PFDN1 prefoldin subunit 1 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:140,245,035...140,303,101
Ensembl chr 5:140,245,035...140,303,113 		JBrowse link
G PKD2L2 polycystin 2 like 2, transient receptor potential cation channel IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:137,889,457...137,942,747
Ensembl chr 5:137,887,968...137,942,747 		JBrowse link
G PROB1 proline rich basic protein 1 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:139,390,592...139,395,104
Ensembl chr 5:139,390,592...139,395,104 		JBrowse link
G PSD2 pleckstrin and Sec7 domain containing 2 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:139,742,475...139,844,466
Ensembl chr 5:139,795,808...139,844,466 		JBrowse link
G PURA purine rich element binding protein A IAGP
EXP		 ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
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
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES | ClinVar Annotator: match by term: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9461080 PMID:12818205 PMID:19846792 PMID:23950017 PMID:24033266 More... NCBI chr 5:140,114,109...140,125,619
Ensembl chr 5:140,107,777...140,125,619 		JBrowse link
G REEP2 receptor accessory protein 2 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:138,439,057...138,446,965
Ensembl chr 5:138,439,057...138,446,969 		JBrowse link
G SIL1 SIL1 nucleotide exchange factor IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:138,946,724...139,198,368
Ensembl chr 5:138,946,724...139,293,557 		JBrowse link
G SLC23A1 solute carrier family 23 member 1 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:139,367,196...139,385,676
Ensembl chr 5:139,367,196...139,384,553 		JBrowse link
G SLC25A2 solute carrier family 25 member 2 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,302,635...141,304,049
Ensembl chr 5:141,302,635...141,304,049 		JBrowse link
G SLC35A4 solute carrier family 35 member A4 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:140,564,828...140,569,100
Ensembl chr 5:140,564,446...140,569,100 		JBrowse link
G SLC4A9 solute carrier family 4 member 9 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:140,360,194...140,375,141
Ensembl chr 5:140,360,194...140,375,141 		JBrowse link
G SNHG4 small nucleolar RNA host gene 4 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:139,274,101...139,284,900
Ensembl chr 5:139,274,102...139,284,899 		JBrowse link
G SPATA24 spermatogenesis associated 24 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:139,392,500...139,404,089
Ensembl chr 5:139,396,563...139,404,089 		JBrowse link
G SPOCK1 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:136,975,298...137,499,326
Ensembl chr 5:136,975,298...137,598,379 		JBrowse link
G SRA1 steroid receptor RNA activator 1 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:140,550,067...140,558,093
Ensembl chr 5:140,537,340...140,557,677 		JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935 		JBrowse link
G TAF7 TATA-box binding protein associated factor 7 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:141,318,490...141,320,784
Ensembl chr 5:141,259,884...141,320,784 		JBrowse link
G TMCO6 transmembrane and coiled-coil domains 6 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:140,596,530...140,647,732
Ensembl chr 5:140,639,435...140,645,408 		JBrowse link
G UBE2D2 ubiquitin conjugating enzyme E2 D2 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:139,526,240...139,628,434
Ensembl chr 5:139,526,431...139,628,434 		JBrowse link
G VTRNA1-1 vault RNA 1-1 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:140,711,276...140,711,373
Ensembl chr 5:140,711,275...140,711,373 		JBrowse link
G VTRNA1-2 vault RNA 1-2 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:140,718,926...140,719,013
Ensembl chr 5:140,718,925...140,719,013 		JBrowse link
G VTRNA1-3 vault RNA 1-3 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:140,726,159...140,726,246
Ensembl chr 5:140,726,158...140,726,246 		JBrowse link
G WDR55 WD repeat domain 55 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:140,664,904...140,672,345
Ensembl chr 5:140,664,868...140,674,124 		JBrowse link
G WNT8A Wnt family member 8A IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:138,077,367...138,092,365
Ensembl chr 5:138,083,990...138,092,365 		JBrowse link
G ZMAT2 zinc finger matrin-type 2 IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:140,700,447...140,706,686
Ensembl chr 5:140,698,680...140,706,686 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35753
    Developmental Disease 28609
      Neurodevelopmental Disorders 13579
        intellectual disability 7177
          autosomal dominant intellectual developmental disorder 855
            autosomal dominant intellectual developmental disorder 31 119
Path 2
Term Annotations click to browse term
  disease 35753
    disease of anatomical entity 32492
      nervous system disease 26372
        central nervous system disease 23607
          brain disease 22046
            disease of mental health 17231
              developmental disorder of mental health 12025
                specific developmental disorder 7420
                  intellectual disability 7177
                    autosomal dominant intellectual developmental disorder 855
                      autosomal dominant intellectual developmental disorder 31 119
paths to the root