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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
 xref: MIM:616158;   MONDO:0014512;   ORDO:438216


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 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 chr18:28,161,882...28,260,917
Ensembl chr18:28,436,394...28,534,954 		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 chr18:28,273,168...28,280,347
Ensembl chr18:28,547,205...28,554,383 		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 chr18:26,204,892...26,229,999
Ensembl chr18:26,455,512...26,504,006 		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 chr18:28,609,558...28,611,409
Ensembl chr18:28,608,883...28,611,292 		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 chr18:26,511,019...26,534,872
Ensembl chr18:26,510,355...26,532,646 		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 chr18:26,335,156...26,356,199
Ensembl chr18:26,609,959...26,630,292 		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 chr18:26,728,246...26,860,911
Ensembl chr18:26,999,820...27,135,007 		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 chr18:27,427,591...27,458,579
Ensembl chr18:27,701,188...27,732,635 		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 chr18:27,945,862...28,013,509
Ensembl chr18:28,220,004...28,287,574 		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 chr18:29,920,889...30,020,280
Ensembl chr18:29,920,889...30,020,280 		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 chr18:27,269,350...27,303,453
Ensembl chr18:27,543,438...27,577,535 		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 chr18:28,378,692...28,381,316
Ensembl chr18:28,652,712...28,655,336 		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 chr18:27,309,711...27,319,106
Ensembl chr18:27,583,195...27,593,195 		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 chr18:26,737,078...26,740,877
Ensembl chr18:26,736,838...26,740,843 		JBrowse link
G Eif4ebp3 eukaryotic translation initiation factor 4E binding protein 3 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:28,263,089...28,268,033
Ensembl chr18:28,540,058...28,542,061 		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 chr18:26,502,413...26,530,753
Ensembl chr18:26,777,858...26,804,613 		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 chr18:26,040,285...26,107,112
Ensembl chr18:26,314,440...26,380,732 		JBrowse link
G Fam53c family with sequence similarity 53, member C ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:26,364,050...26,378,173
Ensembl chr18:26,638,062...26,652,290 		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 chr18:26,571,952...26,600,225
Ensembl chr18:26,571,921...26,600,225 		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 chr18:28,381,649...28,398,699
Ensembl chr18:28,655,671...28,672,712 		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 chr18:28,398,790...28,408,075
Ensembl chr18:28,672,824...28,682,359 		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 chr18:28,106,284...28,116,167
Ensembl chr18:28,380,337...28,390,220 		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 chr17:6,513,129...6,515,786
Ensembl chr17:6,512,629...6,516,127 		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 chr18:26,536,131...26,554,294
Ensembl chr18:26,804,774...26,828,398 		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 chr18:27,904,018...27,905,509 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 chr18:28,632,025...28,646,829
Ensembl chr18:28,631,616...28,653,463 		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 chr18:26,380,859...26,436,701
Ensembl chr18:26,655,687...26,710,814 		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 chr18:26,230,294...26,238,780
Ensembl chr18:26,504,072...26,512,909 		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 chr17:6,523,089...6,645,971
Ensembl chr17:6,528,487...6,651,338 		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 chr18:27,091,919...27,096,967
Ensembl chr18:27,091,919...27,096,967 		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 chr18:27,154,098...27,193,212
Ensembl chr18:27,432,179...27,470,421 		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 chr18:36,705,244...36,724,849
Ensembl chr18:36,956,191...36,976,265 		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 chr18:27,513,087...27,515,148
Ensembl chr18:27,513,089...27,515,182 		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 chr18:28,355,774...28,357,863
Ensembl chr18:28,629,795...28,631,884 		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 chr18:26,163,558...26,180,742
Ensembl chr18:26,437,781...26,454,828 		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 chr18:27,616,542...27,798,505
Ensembl chr18:27,890,578...28,072,538 		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 chr18:27,199,762...27,218,359
Ensembl chr 1:188,508,623...188,508,997
Ensembl chr18:188,508,623...188,508,997 		JBrowse link
G Pcdha1 protocadherin alpha 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 Ensembl chr18:28,855,256...29,120,227 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
G Pcdha12 protocadherin alpha 12 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 Ensembl chr18:28,855,256...29,120,227 JBrowse link
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 Pcdha2 protocadherin alpha 2 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
G Pcdha4 protocadherin alpha 4 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:28,581,040...28,846,214
Ensembl chr18:28,855,256...29,120,227 		JBrowse link
G Pcdha5 protocadherin alpha 5 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532
G Pcdha6 protocadherin alpha 6 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 Ensembl chr18:28,855,256...29,120,227 JBrowse link
G Pcdha7 protocadherin alpha 7 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532
G Pcdha8 protocadherin alpha 8 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 Ensembl chr18:28,855,256...29,120,227 JBrowse link
G Pcdha9 protocadherin alpha 9 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532
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 chr18:28,740,353...28,750,216 JBrowse link
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 Ensembl chr18:28,855,256...29,120,227 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 chr18:28,913,835...28,916,746
Ensembl chr18:29,187,848...29,190,759 		JBrowse link
G Pcdhb13 protocadherin beta 13 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,146,017...29,149,871 JBrowse link
G Pcdhb15 protocadherin beta 15 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,178,869...29,183,847 JBrowse link
G Pcdhb16 protocadherin beta 16 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,192,260...29,195,669 JBrowse link
G Pcdhb19 protocadherin beta 19 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,204,838...29,207,646 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 chr18:29,005,996...29,008,782
Ensembl chr18:29,280,004...29,283,300 		JBrowse link
G Pcdhb20 protocadherin beta 20 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,211,878...29,215,272
Ensembl chr18:29,454,999...29,489,427 		JBrowse link
G Pcdhb21 protocadherin beta 21 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,218,209...29,221,142 JBrowse link
G Pcdhb22 protocadherin beta 22 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,223,028...29,229,132
Ensembl chr18:29,495,389...29,503,336 		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 chr18:29,011,667...29,014,221 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 chr18:29,024,315...29,032,183 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 chr18:29,065,466...29,067,805
Ensembl chr18:29,339,176...29,342,854 		JBrowse link
G Pcdhga1 protocadherin gamma subfamily A, 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,487,404...29,667,865 JBrowse link
G Pcdhga10 protocadherin gamma subfamily A, 10 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,574,693...29,667,865 JBrowse link
G Pcdhga11 protocadherin gamma subfamily A, 11 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,583,373...29,667,865 JBrowse link
G Pcdhga12 protocadherin gamma subfamily A, 12 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,592,664...29,667,865 JBrowse link
G Pcdhga2 protocadherin gamma subfamily A, 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,493,954...29,667,865 JBrowse link
G Pcdhga3 protocadherin gamma subfamily A, 3 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,499,148...29,667,865 JBrowse link
G Pcdhga4 protocadherin gamma subfamily A, 4 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,508,152...29,543,103 JBrowse link
G Pcdhga5 protocadherin gamma subfamily A, 5 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,519,705...29,667,865 JBrowse link
G Pcdhga7 protocadherin gamma subfamily A, 7 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,543,018...29,667,865 JBrowse link
G Pcdhga8 protocadherin gamma subfamily A, 8 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,553,882...29,667,865 JBrowse link
G Pcdhga9 protocadherin gamma subfamily A, 9 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,564,614...29,667,865 JBrowse link
G Pcdhgb1 protocadherin gamma subfamily B, 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,501,739...29,508,024 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 chr18:29,579,129...29,667,868
Ensembl chr18:29,799,669...29,919,101 		JBrowse link
G Pcdhgb8 protocadherin gamma subfamily B, 8 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,588,327...29,667,865 JBrowse link
G Pcdhgc3 protocadherin gamma subfamily C, 3 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,633,016...29,667,865 JBrowse link
G Pcdhgc5 protocadherin gamma subfamily C, 5 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:29,647,201...29,666,336 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 chr18:28,288,210...28,341,198
Ensembl chr18:28,287,913...28,341,123 		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 chr18:26,007,789...26,042,428
Ensembl chr18:26,281,941...26,316,583 		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 chr18:27,242,511...27,247,355
Ensembl chr18:27,516,332...27,523,808 		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 chr18:27,564,912...27,616,674
Ensembl chr18:27,839,627...27,890,709 		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 chr18:27,885,071...27,905,509
Ensembl chr18:28,125,126...28,211,111 		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 chr18:26,438,130...26,447,165
Ensembl chr18:26,712,426...26,721,278 		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 chr18:26,872,423...27,104,365
Ensembl chr18:27,146,527...27,307,693 		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 chr18:27,214,940...27,230,564
Ensembl chr18:27,490,374...27,504,702 		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 chr18:29,452,943...29,456,324
Ensembl chr18:29,703,871...29,708,827 		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 chr18:28,280,483...28,284,610
Ensembl chr18:28,545,756...28,558,725 		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 chr18:28,402,793...28,418,638
Ensembl chr18:28,402,793...28,415,594 		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 chr18:27,249,047...27,257,129
Ensembl chr18:27,522,344...27,531,147 		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 chr17:6,741,504...7,221,685
Ensembl chr17:6,747,646...7,230,282 		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 chr18:28,269,192...28,273,023
Ensembl chr18:28,543,348...28,546,575 		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 chr18:27,606,196...27,612,544
Ensembl chr18:27,606,196...27,611,947 		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 chr18:29,459,937...29,462,086
Ensembl chr18:29,705,920...29,712,712 		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 chr18:28,349,248...28,355,843
Ensembl chr18:28,623,269...28,629,864 		JBrowse link
G Ube2d2 ubiquitin-conjugating enzyme E2D 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES ClinVar PMID:28492532 NCBI chr18:27,364,325...27,406,322
Ensembl chr18:27,638,527...27,683,074 		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 chr18:26,137,690...26,143,283
Ensembl chr18:26,411,833...26,417,426 		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 chr18:28,409,606...28,414,241
Ensembl chr18:28,683,603...28,687,257 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Neurodevelopmental Disorders 6988
        intellectual disability 4415
          autosomal dominant intellectual developmental disorder 477
            autosomal dominant intellectual developmental disorder 31 100
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            disease of mental health 8496
              developmental disorder of mental health 5679
                specific developmental disorder 4650
                  intellectual disability 4415
                    autosomal dominant intellectual developmental disorder 477
                      autosomal dominant intellectual developmental disorder 31 100
paths to the root