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 6
Accession: DOID:0070036
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Definition: An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN2B gene on chromosome 12p13.1. (DO)
Synonyms: exact_synonym: INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 6; MRD6; autosomal dominant intellectual developmental disorder 6, with or without seizures; autosomal dominant mental retardation 6; autosomal dominant mental retardation 6, with or without seizures; autosomal dominant non-syndromic intellectual disability 6
broad_synonym: GRIN2B-RELATED CONDITION; GRIN2B-RELATED DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY AND AUTISM SPECTRUM DISORDER; GRIN2B-RELATED DISORDER
primary_id: MIM:613970
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Apold1
apolipoprotein L domain containing 1
ISO
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6
ClinVar
PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605
NCBI chr 6:134,958,964...134,963,799
Ensembl chr 6:134,958,681...134,963,799
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Arhgdib
Rho, GDP dissociation inhibitor beta
ISO
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr 6:136,900,653...136,918,895
Ensembl chr 6:136,900,653...136,918,897
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Art4
ADP-ribosyltransferase 4
ISO
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr 6:136,825,449...136,834,598
Ensembl chr 6:136,825,449...136,834,731
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Atf7ip
activating transcription factor 7 interacting protein
ISO
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr 6:136,495,787...136,587,848
Ensembl chr 6:136,483,165...136,587,860
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BC049715
cDNA sequence BC049715
ISO
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr 6:136,805,158...136,818,918
Ensembl chr 6:136,804,624...136,817,660
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Bcl2l14
BCL2 like 14
ISO
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr 6:134,373,292...134,415,687
Ensembl chr 6:134,373,281...134,415,699
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Borcs5
BLOC-1 related complex subunit 5
ISO
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr 6:134,616,475...134,688,147
Ensembl chr 6:134,616,473...134,688,150
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Cdkn1b
cyclin dependent kinase inhibitor 1B
ISO
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6
ClinVar
PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605
NCBI chr 6:134,897,364...134,902,488
Ensembl chr 6:134,897,364...134,902,476
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Crebl2
cAMP responsive element binding protein-like 2
ISO
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr 6:134,807,090...134,835,894
Ensembl chr 6:134,807,117...134,835,894
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Ddx47
DEAD box helicase 47
ISO
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6
ClinVar
PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605
NCBI chr 6:134,988,575...135,000,739
Ensembl chr 6:134,988,575...135,000,739
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Dusp16
dual specificity phosphatase 16
ISO
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr 6:134,692,431...134,769,687
Ensembl chr 6:134,692,431...134,769,588
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Emp1
epithelial membrane protein 1
ISO
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6
ClinVar
PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605
NCBI chr 6:135,339,548...135,360,171
Ensembl chr 6:135,339,543...135,360,171
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Eps8
epidermal growth factor receptor pathway substrate 8
ISO
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr 6:137,454,242...137,626,262
Ensembl chr 6:137,454,243...137,631,874
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Erp27
endoplasmic reticulum protein 27
ISO
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr 6:136,884,312...136,899,465
Ensembl chr 6:136,884,309...136,899,178
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Etv6
ets variant 6
ISO
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr 6:134,012,663...134,247,121
Ensembl chr 6:134,012,663...134,247,121
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Fam234b
family with sequence similarity 234, member B
ISO
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6
ClinVar
PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605
NCBI chr 6:135,173,881...135,213,240
Ensembl chr 6:135,174,975...135,221,953
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Gpr19
G protein-coupled receptor 19
ISO
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr 6:134,846,055...134,875,157
Ensembl chr 6:134,846,056...134,875,541
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Gprc5a
G protein-coupled receptor, family C, group 5, member A
ISO
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6
ClinVar
PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605
NCBI chr 6:135,042,660...135,061,707
Ensembl chr 6:135,042,649...135,061,707
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Gprc5d
G protein-coupled receptor, family C, group 5, member D
ISO
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6
ClinVar
PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605
NCBI chr 6:135,082,989...135,095,281
Ensembl chr 6:135,082,989...135,095,281
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Grin2b
glutamate receptor, ionotropic, NMDA2B (epsilon 2)
ISO
ClinVar Annotator: match by term: GRIN2B-related disorder | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:16537520 PMID:17576681 PMID:18414213 PMID:19874789 PMID:20890276 PMID:22833210 PMID:22986046 PMID:23033978 PMID:23160955 PMID:23408766 PMID:23918416 PMID:23934111 PMID:24272827 PMID:24759409 PMID:25326635 PMID:25326637 PMID:25356899 PMID:25741868 PMID:25741869 PMID:26350515 PMID:26467025 PMID:26633542 PMID:27135925 PMID:27353043 PMID:27572814 PMID:27616045 PMID:27656287 PMID:27818011 PMID:27839871 PMID:28191890 PMID:28283559 PMID:28333917 PMID:28377535 PMID:28492532 PMID:28503605 PMID:28554332 PMID:28708303 PMID:28856709 PMID:28867141 PMID:29681796 PMID:29851452 PMID:30151416 PMID:30217972 PMID:30315573 PMID:30440138 PMID:30564305 PMID:30842224 PMID:31429998 PMID:31623504 PMID:31807283 PMID:33229608 PMID:33604570 PMID:34008892 PMID:34160719 PMID:34212862 PMID:36704660 PMID:37369021 More...
NCBI chr 6:135,690,219...136,150,658
Ensembl chr 6:135,690,231...136,150,509
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Gsg1
germ cell associated 1
ISO
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6
ClinVar
PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605
NCBI chr 6:135,214,327...135,231,334
Ensembl chr 6:135,214,324...135,231,349 Ensembl chr 6:135,214,324...135,231,349
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Gucy2c
guanylate cyclase 2c
ISO
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr 6:136,674,282...136,758,740
Ensembl chr 6:136,674,282...136,758,763
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H2aj
H2J.A histone
ISO
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr 6:136,785,246...136,787,072
Ensembl chr 6:136,785,242...136,787,072
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H4c16
H4 histone 16
ISO
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr 6:136,780,991...136,781,429
Ensembl chr 6:136,778,551...136,781,413
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Hebp1
heme binding protein 1
ISO
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6
ClinVar
PMID:23918416 PMID:27656287 PMID:28377535 PMID:28492532 PMID:28503605
NCBI chr 6:135,114,517...135,145,213
Ensembl chr 6:135,114,520...135,175,020
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Lrp6
low density lipoprotein receptor-related protein 6
ISO
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr 6:134,423,439...134,543,876
Ensembl chr 6:134,423,439...134,543,928
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Mansc1
MANSC domain containing 1
ISO
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr 6:134,586,170...134,609,451
Ensembl chr 6:134,586,170...134,609,451
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Mgp
matrix Gla protein
ISO
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr 6:136,849,433...136,852,821
Ensembl chr 6:136,849,433...136,852,821
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Pde6h
phosphodiesterase 6H, cGMP-specific, cone, gamma
ISO
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr 6:136,929,216...136,940,483
Ensembl chr 6:136,900,830...136,945,863
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Plbd1
phospholipase B domain containing 1
ISO
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr 6:136,589,069...136,639,301
Ensembl chr 6:136,589,068...136,638,926
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Ptpro
protein tyrosine phosphatase receptor type O
ISO
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr 6:137,229,189...137,440,251
Ensembl chr 6:137,229,317...137,440,231
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Rerg
RAS-like, estrogen-regulated, growth-inhibitor
ISO
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr 6:137,031,822...137,147,494
Ensembl chr 6:137,031,823...137,147,495
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Smco3
single-pass membrane protein with coiled-coil domains 3
ISO
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr 6:136,806,929...136,812,448
Ensembl chr 6:136,806,925...136,812,450
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Wbp11
WW domain binding protein 11
ISO
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 6
ClinVar
PMID:28492532
NCBI chr 6:136,790,652...136,805,214
Ensembl chr 6:136,790,652...136,805,231
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