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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 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:135,768,442...135,913,976
Ensembl chr 5:141,884,908...142,031,298 		JBrowse link
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 chr 5:135,922,662...135,928,995
Ensembl chr 5:142,039,818...142,046,157 		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 chr 5:133,535,321...133,557,304
Ensembl chr 5:139,652,112...139,690,468 		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 chr 5:135,996,265...135,997,909
Ensembl chr 5:142,113,082...142,118,966 		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 chr 5:133,566,022...133,591,528
Ensembl chr 5:139,699,421...139,724,991 		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 chr 5:133,663,210...133,717,974
Ensembl chr 5:139,795,565...139,842,698 		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 chr 5:134,134,944...134,313,239
Ensembl chr 5:140,261,883...140,438,547 		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 chr 5:135,015,148...135,050,736
Ensembl chr 5:141,152,849...141,171,158 		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 Ensembl chr 5:141,659,224...141,727,870 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 chr 5:136,876,396...136,980,097 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 chr 5:134,781,226...134,814,813
Ensembl chr 5:140,903,767...140,937,345 		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 chr 5:136,035,464...136,038,524
Ensembl chr 5:142,151,441...142,154,262 		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 chr 5:134,819,568...134,833,508
Ensembl chr 5:140,940,578...140,955,140 		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 chr 5:133,845,305...133,849,291
Ensembl chr 5:139,975,635...139,979,260 		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 chr 5:133,886,074...133,922,682
Ensembl chr 5:140,015,518...140,051,974 		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 chr 5:133,324,842...133,497,303
Ensembl chr 5:139,461,276...139,555,121 		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 chr 5:133,630,274...133,652,525
Ensembl chr 5:139,762,690...139,784,942 		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 chr 5:136,038,575...136,056,400
Ensembl chr 5:142,154,552...142,172,371 		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 chr 5:135,699,553...135,713,366
Ensembl chr 5:141,816,402...141,830,531 		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 chr 5:133,132,030...133,140,771
Ensembl chr 5:139,277,004...139,277,939 		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 chr 5:133,934,859...133,955,048
Ensembl chr 5:140,064,207...140,084,551 		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 chr 5:136,012,381...136,027,099
Ensembl chr 5:142,129,130...142,143,393 		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 chr 5:133,732,400...133,816,988
Ensembl chr 5:139,863,922...139,947,895 		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 chr 5:133,557,456...133,566,089
Ensembl chr 5:139,690,517...139,699,446 		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 chr 5:133,005,563...133,276,087
Ensembl chr 5:139,147,793...139,248,919 		JBrowse link
G LOC100969951 histidine--tRNA ligase, mitochondrial ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:136,056,060...136,065,588
Ensembl chr 5:142,172,081...142,179,950 		JBrowse link
G LOC100981837 protocadherin beta-14 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:136,584,741...136,589,504
Ensembl chr 5:142,700,427...142,712,829 		JBrowse link
G LOC100983852 protocadherin gamma-B7 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:136,779,117...136,782,629 JBrowse link
G LOC100987426 protocadherin beta-15 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:136,605,233...136,611,147
Ensembl chr 5:142,721,472...142,723,835 		JBrowse link
G LOC100988105 protocadherin beta-6 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:136,509,096...136,516,640
Ensembl chr 5:142,627,220...142,629,604 		JBrowse link
G LOC100988774 protocadherin beta-7 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:136,526,139...136,538,754
Ensembl chr 5:142,649,791...142,652,172 		JBrowse link
G LOC100989435 protocadherin beta-13 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:136,575,453...136,579,906
Ensembl chr 5:142,691,101...142,693,392 		JBrowse link
G LOC100991137 protocadherin beta-12 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:136,569,617...136,575,312
Ensembl chr 5:142,685,863...142,688,272 		JBrowse link
G LOC100992160 protocadherin alpha-11 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:136,150,262...136,376,530
Ensembl chr 5:142,321,070...142,488,986 		JBrowse link
G LOC100994239 protocadherin alpha-2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532
G LOC100995259 protocadherin alpha-7 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 Ensembl chr 5:142,301,336...142,316,338 JBrowse link
G LOC103783390 protocadherin beta-10 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:136,545,793...136,558,895
Ensembl chr 5:142,664,256...142,671,880 		JBrowse link
G LOC103783391 protocadherin beta-4 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:136,484,686...136,489,194 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 chr 5:134,247,933...134,254,188 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 chr 5:134,664,893...134,702,566
Ensembl chr 5:140,788,709...140,825,064 		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 chr 5:133,254,644...133,274,615
Ensembl chr 5:139,386,101...139,411,960 		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 chr 5:134,758,631...134,772,992
Ensembl chr 5:140,881,415...140,883,756 		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 chr 5:136,010,029...136,012,373 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 chr 5:133,493,930...133,517,906
Ensembl chr 5:139,628,678...139,651,372 		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 chr 5:135,212,496...135,411,469 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 chr 5:134,712,834...134,740,747
Ensembl chr 5:140,835,320...140,862,743 		JBrowse link
G PCDHA10 protocadherin alpha 10 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532
G PCDHA11 protocadherin alpha 11 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 Ensembl chr 5:142,348,847...142,366,618 JBrowse link
G PCDHA12 protocadherin alpha 12 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532
G PCDHA13 protocadherin alpha 13 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532
G PCDHA3 protocadherin alpha 3 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 Ensembl chr 5:142,280,707...142,283,181 JBrowse link
G PCDHA4 protocadherin alpha 4 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 Ensembl chr 5:142,286,433...142,289,088 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
G PCDHAC2 protocadherin alpha subfamily C, 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532
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 chr 5:136,413,938...136,423,568
Ensembl chr 5:142,530,521...142,532,977 		JBrowse link
G PCDHB11 protocadherin beta 11 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:136,562,547...136,565,623 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 chr 5:136,458,253...136,463,369
Ensembl chr 5:142,572,690...142,574,838 		JBrowse link
G PCDHB3 protocadherin beta 3 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:136,463,492...136,467,739
Ensembl chr 5:142,578,291...142,580,681 		JBrowse link
G PCDHB5 protocadherin beta 5 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:136,498,492...136,501,496
Ensembl chr 5:142,612,509...142,614,896 		JBrowse link
G PCDHB8 protocadherin beta 8 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr 5:136,538,882...136,543,805
Ensembl chr 5:142,654,990...142,657,395 		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 chr 5:135,611,791...135,669,895
Ensembl chr 5:141,729,128...141,786,822 		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 chr 5:133,276,223...133,329,712
Ensembl chr 5:139,416,606...139,459,732 		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 chr 5:134,761,660...134,767,557
Ensembl chr 5:140,885,875...140,888,922 		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 chr 5:135,162,701...135,211,389
Ensembl chr 5:141,294,395...141,329,952 		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:19846792 PMID:23950017 PMID:24033266 More... NCBI chr 5:135,541,865...135,610,526
Ensembl chr 5:141,659,224...141,727,870 		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 chr 5:133,819,005...133,826,930
Ensembl chr 5:139,949,903...139,959,112 		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 chr 5:134,325,451...134,573,398
Ensembl chr 5:140,450,891...140,628,703 		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 chr 5:134,737,344...134,756,153
Ensembl chr 5:140,859,984...140,877,214 		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 chr 5:136,664,485...136,666,344 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
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 chr 5:135,725,067...135,750,666
Ensembl chr 5:141,844,078...141,861,739 		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 chr 5:134,767,828...134,775,171
Ensembl chr 5:140,890,610...140,897,927 		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 chr 5:132,372,283...132,890,168
Ensembl chr 5:138,512,523...138,797,416 		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 chr 5:135,914,506...135,922,704
Ensembl chr 5:142,032,119...142,039,188 		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 chr 5:134,845,689...134,852,938
Ensembl chr 5:140,967,399...140,973,846 		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 chr 5:136,680,554...136,682,862 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 chr 5:136,003,993...136,009,960
Ensembl chr 5:142,120,756...142,126,727 		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 chr 5:134,927,150...134,995,298
Ensembl chr 5:141,048,385...141,115,842 		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 chr 5:136,029,221...136,037,015
Ensembl chr 5:142,145,749...142,152,992 		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 chr 5:133,419,324...133,471,094
Ensembl chr 5:139,598,229...139,605,926 		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 chr 5:136,065,016...136,071,333
Ensembl chr 5:142,180,981...142,187,292 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15686
    Developmental Disease 13596
      Neurodevelopmental Disorders 6869
        intellectual disability 4337
          autosomal dominant intellectual developmental disorder 431
            autosomal dominant intellectual developmental disorder 31 81
Path 2
Term Annotations click to browse term
  disease 15686
    disease of anatomical entity 15312
      nervous system disease 13351
        central nervous system disease 11965
          brain disease 11249
            disease of mental health 8135
              developmental disorder of mental health 5564
                specific developmental disorder 4529
                  intellectual disability 4337
                    autosomal dominant intellectual developmental disorder 431
                      autosomal dominant intellectual developmental disorder 31 81
paths to the root