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
Accession: DOID:0070061
browse the term
Definition: An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PURA gene on chromosome 5q31.3. (DO)
Synonyms: exact_synonym: GLOBAL DEVELOPMENTAL DELAY-VISUAL ANOMALIES-PROGRESSIVE CEREBELLAR ATROPHY-TRUNCAL HYPOTONIA SYNDROME; MRD31; NEDRIHF; PURA SYNDROME; PURA-RELATED SEVERE NEONATAL HYPOTONIA-SEIZURES-ENCEPHALOPATHY SYNDROME DUE TO A POINT MUTATION; autosomal dominant mental retardation 31; autosomal dominant non-syndromic intellectual disability 31; neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties
xref: MIM:616158 ; MONDO:0014512 ; ORDO:438216
GViewer not supported for the selected species.
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Apbb3
amyloid beta precursor protein binding family B member 3
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:33,322,496...33,328,567
Ensembl chrNW_004624743:33,322,792...33,328,391
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Brd8
bromodomain containing 8
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:30,950,790...30,994,655
Ensembl chrNW_004624743:30,961,646...30,994,559
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Cd14
CD14 molecule
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:33,372,023...33,374,438
Ensembl chrNW_004624743:33,367,898...33,373,922
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Cdc23
cell division cycle 23
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:31,012,262...31,036,639
Ensembl chrNW_004624743:31,012,720...31,036,762
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Cdc25c
cell division cycle 25C
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:31,099,320...31,123,808
Ensembl chrNW_004624743:31,099,268...31,124,262
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Ctnna1
catenin alpha 1
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:31,512,481...31,700,340
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Cxxc5
CXXC finger protein 5
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:32,450,612...32,485,249
Ensembl chrNW_004624743:32,450,819...32,486,293
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Cystm1
cysteine rich transmembrane module containing 1
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:32,965,075...33,011,472
Ensembl chrNW_004624743:32,965,527...33,011,361
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Diaph1
diaphanous related formin 1
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624774:738,717...845,187
Ensembl chrNW_004624774:739,206...845,272
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Dnajc18
DnaJ heat shock protein family (Hsp40) member C18
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:32,214,111...32,239,323
Ensembl chrNW_004624743:32,217,570...32,239,369
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Dnd1
DND microRNA-mediated repression inhibitor 1
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:33,421,810...33,424,515
Ensembl chrNW_004624743:33,421,810...33,424,635
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Ecscr
endothelial cell surface expressed chemotaxis and apoptosis regulator
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:32,248,768...32,272,352
Ensembl chrNW_004624743:32,246,966...32,256,617
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Egr1
early growth response 1
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:31,247,855...31,251,675
Ensembl chrNW_004624743:31,247,516...31,252,205
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Etf1
eukaryotic translation termination factor 1
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:31,280,547...31,313,086
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Fam13b
family with sequence similarity 13 member B
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:30,772,973...30,852,503
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Gfra3
GDNF family receptor alpha 3
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:31,079,591...31,095,595
Ensembl chrNW_004624743:31,074,302...31,096,301
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Hars1
histidyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:33,424,705...33,435,767
Ensembl chrNW_004624743:33,423,342...33,435,721
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Hars2
histidyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:33,435,777...33,443,036
Ensembl chrNW_004624743:33,435,806...33,443,227
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Hbegf
heparin binding EGF like growth factor
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:33,112,105...33,124,145
Ensembl chrNW_004624743:33,112,036...33,124,169
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Hnrnpa0
heterogeneous nuclear ribonucleoprotein A0
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624733:9,265,784...9,271,559
Ensembl chrNW_004624733:9,266,607...9,267,527
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Hspa9
heat shock protein family A (Hsp70) member 9
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:31,324,085...31,345,681
Ensembl chrNW_004624743:31,324,085...31,345,695
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Igip
IgA inducing protein
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:32,894,082...32,899,173
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Ik
IK cytokine
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:33,400,359...33,413,993
Ensembl chrNW_004624743:33,400,459...33,413,993
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Kdm3b
lysine demethylase 3B
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:31,148,051...31,224,896
Ensembl chrNW_004624743:31,148,098...31,225,992
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Kif20a
kinesin family member 20A
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:30,994,664...31,003,858
Ensembl chrNW_004624743:30,995,526...31,011,396
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Klhl3
kelch like family member 3
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624733:9,299,217...9,413,390
Ensembl chrNW_004624733:9,299,229...9,413,469
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Lrrtm2
leucine rich repeat transmembrane neuronal 2
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:31,648,543...31,651,772
Ensembl chrNW_004624743:31,644,209...31,651,688
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Matr3
matrin 3
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:32,086,821...32,147,079
Ensembl chrNW_004624743:32,115,544...32,146,921
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Myot
myotilin
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624733:9,131,051...9,160,813
Ensembl chrNW_004624733:9,130,399...9,160,908
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Mzb1
marginal zone B and B1 cell specific protein
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:32,192,264...32,194,848
Ensembl chrNW_004624743:32,192,251...32,194,376
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Ndufa2
NADH:ubiquinone oxidoreductase subunit A2
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:33,398,027...33,400,346
Ensembl chrNW_004624743:33,398,027...33,400,271
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Nme5
NME/NM23 family member 5
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:30,925,210...30,950,129
Ensembl chrNW_004624743:30,925,445...30,950,114
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Nrg2
neuregulin 2
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:32,620,025...32,810,990
Ensembl chrNW_004624743:32,620,295...32,810,391
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Paip2
poly(A) binding protein interacting protein 2
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:32,152,007...32,171,111
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Pcdhac1
protocadherin alpha subfamily C, 1
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624774:216,504...219,816
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Pcdhb1
protocadherin beta 1
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624774:344,785...347,744
Ensembl chrNW_004624774:344,942...347,398
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Pcdhb2
protocadherin beta 2
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624774:377,247...382,096
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Pcdhgb7
protocadherin gamma subfamily B, 7
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624774:655,090...657,077
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Pfdn1
prefoldin subunit 1
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:33,012,920...33,083,776
Ensembl chrNW_004624743:33,012,922...33,083,654
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Pkd2l2
polycystin 2 like 2, transient receptor potential cation channel
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:30,743,052...30,770,985
Ensembl chrNW_004624743:30,743,052...30,771,305
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Prob1
proline rich basic protein 1
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:32,195,026...32,199,784
Ensembl chrNW_004624743:32,196,485...32,199,499
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Psd2
pleckstrin and Sec7 domain containing 2
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:32,572,976...32,616,922
Ensembl chrNW_004624743:32,573,044...32,616,864
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Pura
purine rich element binding protein A
ISO
ClinVar Annotator: match by term: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES | ClinVar Annotator: match by term: PURA Syndrome | ClinVar Annotator: match by term: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
OMIM ClinVar
PMID:9461080 PMID:12818205 PMID:12955720 PMID:19846792 PMID:20301788 PMID:23950017 PMID:24033266 PMID:25342064 PMID:25439098 PMID:25741868 PMID:25741869 PMID:26744780 PMID:27148565 PMID:28448108 PMID:28492532 PMID:28600779 PMID:29097605 PMID:29150892 PMID:29619234 PMID:30919572 PMID:32089526 PMID:32238909 PMID:32337850 PMID:32427350 PMID:32581362 PMID:32860008 PMID:33726816 PMID:34008892 PMID:35118825 PMID:36376392 More...
NCBI chrNW_004624743:32,878,677...32,888,650
Ensembl chrNW_004624743:32,884,552...32,885,517
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Reep2
receptor accessory protein 2
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:31,226,744...31,233,030
Ensembl chrNW_004624743:31,226,825...31,235,343
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Sil1
SIL1 nucleotide exchange factor
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:31,709,989...32,015,770
Ensembl chrNW_004624743:31,708,423...31,935,257
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Slc23a1
solute carrier family 23 member 1
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:32,169,051...32,186,618
Ensembl chrNW_004624743:32,174,922...32,186,697
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Slc25a2
solute carrier family 25 member 2
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624774:540,820...542,200
Ensembl chrNW_004624774:541,115...542,020
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Slc35a4
solute carrier family 35 member A4
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:33,331,276...33,333,192
Ensembl chrNW_004624743:33,331,326...33,332,300
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Slc4a9
solute carrier family 4 member 9
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:33,137,588...33,165,882
Ensembl chrNW_004624743:33,137,641...33,151,287
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Spata24
spermatogenesis associated 24
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:32,201,285...32,207,197
Ensembl chrNW_004624743:32,201,286...32,207,177
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Spock1
SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624733:9,556,024...10,080,703
Ensembl chrNW_004624733:9,556,763...10,080,703
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Sra1
steroid receptor RNA activator 1
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:33,314,878...33,322,297
Ensembl chrNW_004624743:33,315,236...33,321,795
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Sting1
stimulator of interferon response cGAMP interactor 1
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:32,277,197...32,283,346
Ensembl chrNW_004624743:32,273,385...32,283,235
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Taf7
TATA-box binding protein associated factor 7
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624774:548,072...550,410
Ensembl chrNW_004624774:548,072...550,404
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Tmco6
transmembrane and coiled-coil domains 6
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:33,383,047...33,398,774
Ensembl chrNW_004624743:33,382,973...33,401,509
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Ube2d2
ubiquitin conjugating enzyme E2 D2
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:32,338,864...32,426,220
Ensembl chrNW_004624743:32,338,821...32,425,478
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Wdr55
WD repeat domain 55
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:33,416,212...33,421,861
Ensembl chrNW_004624743:33,415,984...33,422,107
G
Wnt8a
Wnt family member 8A
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:30,852,463...30,896,443
Ensembl chrNW_004624743:30,890,359...30,895,682
G
Zmat2
zinc finger matrin-type 2
ISO
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES
ClinVar
PMID:28492532
NCBI chrNW_004624743:33,444,432...33,451,490
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all