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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 recessive intellectual developmental disorder
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Accession:DOID:0060308 term browser browse the term
Definition:A intellectual disability characterized by an autosomal recessive inheritance pattern. (DO)
Synonyms:exact_synonym: autosomal recessive mental retardation;   autosomal recessive non-syndromic intellectual disability;   autosomal recessive non-syndromic mental retardation
 xref: OMIM:PS249500;   ORDO:88616
For additional species annotation, visit the Alliance of Genome Resources.



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autosomal recessive intellectual developmental disorder term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank3 ankyrin 3 ISS OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 MouseDO NCBI chr20:18,602,267...19,225,831
Ensembl chr20:18,602,786...19,086,300
JBrowse link
G Cc2d1a coiled-coil and C2 domain containing 1A ISS OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 MouseDO NCBI chr19:24,011,897...24,026,937
Ensembl chr19:24,011,938...24,026,936
JBrowse link
G Cradd CASP2 and RIPK1 domain containing adaptor with death domain ISS OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 MouseDO NCBI chr 7:29,940,240...29,952,907
Ensembl chr 7:29,798,586...29,952,907
JBrowse link
G Crbn cereblon ISS OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 MouseDO NCBI chr 4:139,701,154...139,719,949
Ensembl chr 4:139,701,094...139,719,938
JBrowse link
G Grik2 glutamate ionotropic receptor kainate type subunit 2 ISS OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 MouseDO NCBI chr20:52,135,325...52,833,061
Ensembl chr20:52,133,851...52,838,375
JBrowse link
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISS OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 MouseDO NCBI chr 1:106,904,789...107,110,997
Ensembl chr 1:106,880,084...107,108,134
JBrowse link
G Kptn kaptin (actin binding protein) ISS OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 MouseDO NCBI chr 1:76,808,737...76,809,531 JBrowse link
G Lhfpl5 LHFPL tetraspan subfamily member 5 ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive ClinVar PMID:27148795 NCBI chr20:6,632,362...6,642,534
Ensembl chr20:6,632,362...6,642,532
JBrowse link
G Lins1 lines homolog 1 ISS OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 MouseDO NCBI chr 1:120,267,586...120,295,013
Ensembl chr 1:120,267,693...120,293,607
JBrowse link
G Med23 mediator complex subunit 23 ISS OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 MouseDO NCBI chr 1:20,490,315...20,558,461
Ensembl chr 1:20,490,315...20,537,463
JBrowse link
G Mettl23 methyltransferase like 23 ISS OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 MouseDO NCBI chr10:102,047,090...102,053,379
Ensembl chr10:102,047,314...102,051,977
JBrowse link
G Nsun2 NOP2/Sun RNA methyltransferase 2 ISS OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 MouseDO NCBI chr 1:33,662,139...33,685,887
Ensembl chr 1:33,662,139...33,685,862
JBrowse link
G Pgap1 post-GPI attachment to proteins inositol deacylase 1 ISS OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 MouseDO NCBI chr 9:55,975,574...56,044,325
Ensembl chr 9:55,975,667...56,044,464
JBrowse link
G Prss12 serine protease 12 ISS OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 MouseDO NCBI chr 2:211,624,134...211,684,126
Ensembl chr 2:211,624,134...211,684,126
JBrowse link
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISS OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 MouseDO NCBI chr 5:131,470,348...131,670,794
Ensembl chr 5:131,470,348...131,670,810
JBrowse link
G Taf2 TATA-box binding protein associated factor 2 ISS OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 MouseDO NCBI chr 7:86,422,613...86,479,616
Ensembl chr 7:86,422,613...86,479,616
JBrowse link
G Tecr trans-2,3-enoyl-CoA reductase ISS OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 MouseDO NCBI chr19:24,526,705...24,568,168
Ensembl chr19:24,541,615...24,568,168
JBrowse link
G Tti2 TELO2 interacting protein 2 ISS OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 MouseDO NCBI chr16:60,980,665...60,988,587
Ensembl chr16:60,979,039...60,988,569
JBrowse link
G Tusc3 tumor suppressor candidate 3 ISS OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 MouseDO NCBI chr16:53,196,195...53,345,241
Ensembl chr16:53,196,195...53,344,781
JBrowse link
G Washc4 WASH complex subunit 4 ISS OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942 MouseDO NCBI chr 7:20,187,905...20,240,228
Ensembl chr 7:20,187,922...20,240,226
JBrowse link
autosomal recessive intellectual developmental disorder 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trappc9 trafficking protein particle complex subunit 9 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 13 | ClinVar Annotator: match by term: Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome OMIM
ClinVar
PMID:17120046 PMID:18414213 PMID:20004763 PMID:20004764 PMID:20004765 More... NCBI chr 7:104,521,593...104,998,352
Ensembl chr 7:104,521,593...104,998,352
JBrowse link
autosomal recessive intellectual developmental disorder 61 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: ALWADEI SYNDROME | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 61 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 OMIM
ClinVar
PMID:25741868 PMID:27612186 PMID:28492532 NCBI chr 5:57,628,397...57,675,524
Ensembl chr 5:57,629,904...57,675,524
JBrowse link
autosomal recessive intellectual developmental disorder 72 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mettl5 methyltransferase 5, N6-adenosine ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 72 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:31130284 PMID:31564433 NCBI chr 3:54,625,790...54,638,066
Ensembl chr 3:54,625,793...54,638,039
JBrowse link
Intellectual Developmental Disorder, Autosomal Recessive 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prss12 serine protease 12 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 1 OMIM
ClinVar
PMID:12459588 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 2:211,624,134...211,684,126
Ensembl chr 2:211,624,134...211,684,126
JBrowse link
Intellectual Developmental Disorder, Autosomal Recessive 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G St3gal3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 12 OMIM
ClinVar
PMID:17120046 PMID:18414213 PMID:21907012 PMID:25741868 PMID:28492532 More... NCBI chr 5:131,470,348...131,670,794
Ensembl chr 5:131,470,348...131,670,810
JBrowse link
Intellectual Developmental Disorder, Autosomal Recessive 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tecr trans-2,3-enoyl-CoA reductase ISO ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 14 OMIM
ClinVar
PMID:11590547 PMID:21212097 PMID:22981120 PMID:24220030 PMID:25741868 NCBI chr19:24,526,705...24,568,168
Ensembl chr19:24,541,615...24,568,168
JBrowse link
Intellectual Developmental Disorder, Autosomal Recessive 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 18, WITH OR WITHOUT EPILEPSY ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422
JBrowse link
G Med23 mediator complex subunit 23 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 18 | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 18, WITH OR WITHOUT EPILEPSY OMIM
ClinVar
PMID:21868677 PMID:25741868 PMID:25845469 PMID:27311965 PMID:28492532 More... NCBI chr 1:20,490,315...20,558,461
Ensembl chr 1:20,490,315...20,537,463
JBrowse link
Intellectual Developmental Disorder, Autosomal Recessive 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crbn cereblon ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 2 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2A OMIM
ClinVar
PMID:10932263 PMID:15557513 PMID:18414213 PMID:18414909 PMID:23983124 More... NCBI chr 4:139,701,154...139,719,949
Ensembl chr 4:139,701,094...139,719,938
JBrowse link
G Trnt1 tRNA nucleotidyl transferase 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 2 ClinVar PMID:10932263 PMID:15557513 PMID:18414909 PMID:23983124 PMID:24088041 More... NCBI chr 4:139,681,115...139,703,611
Ensembl chr 4:139,680,858...139,703,611
JBrowse link
Intellectual Developmental Disorder, Autosomal Recessive 27 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lins1 lines homolog 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 27 OMIM
ClinVar
PMID:21937992 PMID:23773660 PMID:25741868 PMID:28492532 NCBI chr 1:120,267,586...120,295,013
Ensembl chr 1:120,267,693...120,293,607
JBrowse link
Intellectual Developmental Disorder, Autosomal Recessive 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cc2d1a coiled-coil and C2 domain containing 1A ISO ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 3 OMIM
ClinVar
PMID:16033914 PMID:18414213 PMID:24026677 PMID:24033266 PMID:25066123 More... NCBI chr19:24,011,897...24,026,937
Ensembl chr19:24,011,938...24,026,936
JBrowse link
Intellectual Developmental Disorder, Autosomal Recessive 37 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank3 ankyrin 3 ISO ClinVar Annotator: match by term: Intellectual disability-hypotonia-spasticity-sleep disorder syndrome OMIM
ClinVar
PMID:22865819 PMID:23390136 PMID:25741868 PMID:28492532 PMID:29302074 NCBI chr20:18,602,267...19,225,831
Ensembl chr20:18,602,786...19,086,300
JBrowse link
Intellectual Developmental Disorder, Autosomal Recessive 38 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 38 OMIM
ClinVar
PMID:23065719 PMID:23243086 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:106,904,789...107,110,997
Ensembl chr 1:106,880,084...107,108,134
JBrowse link
Intellectual Developmental Disorder, Autosomal Recessive 39 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mak16 MAK16 homolog ISO ClinVar Annotator: match by term: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome ClinVar PMID:23956177 NCBI chr16:60,972,699...60,981,250
Ensembl chr16:60,972,697...60,983,243
JBrowse link
G Tti2 TELO2 interacting protein 2 ISO ClinVar Annotator: match by term: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome OMIM
ClinVar
PMID:21937992 PMID:23956177 PMID:25741868 NCBI chr16:60,980,665...60,988,587
Ensembl chr16:60,979,039...60,988,569
JBrowse link
Intellectual Developmental Disorder, Autosomal Recessive 41 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kptn kaptin (actin binding protein) ISO ClinVar Annotator: match by term: Macrocephaly-developmental delay syndrome OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:24239382 PMID:25741868 PMID:25847626 More... NCBI chr 1:76,808,737...76,809,531 JBrowse link
G Ppp2r5c protein phosphatase 2, regulatory subunit B', gamma ISO ClinVar Annotator: match by term: Macrocephaly-developmental delay syndrome ClinVar PMID:25741868 NCBI chr 6:129,461,689...129,598,344
Ensembl chr 6:129,461,648...129,598,346
JBrowse link
Intellectual Developmental Disorder, Autosomal Recessive 43 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Washc4 WASH complex subunit 4 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 43 OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 7:20,187,905...20,240,228
Ensembl chr 7:20,187,922...20,240,226
JBrowse link
Intellectual Developmental Disorder, Autosomal Recessive 44 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mettl23 methyltransferase like 23 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 44 OMIM
ClinVar
PMID:24501276 PMID:24626631 PMID:25741868 PMID:28492532 PMID:32860008 NCBI chr10:102,047,090...102,053,379
Ensembl chr10:102,047,314...102,051,977
JBrowse link
Intellectual Developmental Disorder, Autosomal Recessive 45 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxo31 F-box protein 31 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 45 OMIM
ClinVar
PMID:25741868 NCBI chr19:49,624,818...49,656,083
Ensembl chr19:49,627,686...49,656,010
JBrowse link
Intellectual Developmental Disorder, Autosomal Recessive 46 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndst1 N-deacetylase and N-sulfotransferase 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 46 OMIM
ClinVar
PMID:21937992 PMID:25125150 PMID:25741868 PMID:27620904 PMID:27870114 More... NCBI chr18:54,136,887...54,199,545
Ensembl chr18:54,140,779...54,178,191
JBrowse link
Intellectual Developmental Disorder, Autosomal Recessive 47 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fmn2 formin 2 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 47 OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr13:86,454,256...86,771,437
Ensembl chr13:86,453,926...86,771,411
JBrowse link
Intellectual Developmental Disorder, Autosomal Recessive 48 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp2 elongator acetyltransferase complex subunit 2 ISO ClinVar Annotator: match by term: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome ClinVar PMID:25741868 NCBI chr18:15,885,940...15,921,564
Ensembl chr18:15,885,934...15,921,599
JBrowse link
G Slc6a17 solute carrier family 6 member 17 ISO ClinVar Annotator: match by term: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome OMIM
ClinVar
PMID:25704603 PMID:25741868 PMID:28492532 NCBI chr 2:195,107,437...195,155,697
Ensembl chr 2:195,107,438...195,155,697
JBrowse link
Intellectual Developmental Disorder, Autosomal Recessive 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsun2 NOP2/Sun RNA methyltransferase 2 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 5 OMIM
ClinVar
PMID:17120046 PMID:18414213 PMID:21063731 PMID:22541559 PMID:22541562 More... NCBI chr 1:33,662,139...33,685,887
Ensembl chr 1:33,662,139...33,685,862
JBrowse link
G Syngap1 synaptic Ras GTPase activating protein 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 5 ClinVar PMID:28492532 NCBI chr20:5,026,366...5,056,659
Ensembl chr20:5,026,364...5,056,672
JBrowse link
Intellectual Developmental Disorder, Autosomal Recessive 50 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edc3 enhancer of mRNA decapping 3 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 50 OMIM
ClinVar
PMID:25701870 PMID:25741868 NCBI chr 8:58,106,129...58,151,685
Ensembl chr 8:58,106,175...58,151,671
JBrowse link
Intellectual Developmental Disorder, Autosomal Recessive 51 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnmt histamine N-methyltransferase ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 51 OMIM
ClinVar
PMID:25741868 PMID:26206890 NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012
JBrowse link
Intellectual Developmental Disorder, Autosomal Recessive 52 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lman2l lectin, mannose-binding 2-like ISO ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 52 OMIM
ClinVar
PMID:25741868 PMID:26566883 NCBI chr 9:38,683,174...38,685,249
NCBI chr 9:38,661,709...38,683,659
Ensembl chr 9:38,661,712...38,685,337
JBrowse link
Intellectual Developmental Disorder, Autosomal Recessive 54 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnik TRAF2 and NCK interacting kinase ISO ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 54 OMIM
ClinVar
PMID:25741868 PMID:27106596 NCBI chr 2:111,184,352...111,587,993
Ensembl chr 2:111,184,387...111,580,750
JBrowse link
Intellectual Developmental Disorder, Autosomal Recessive 56 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zc3h14 zinc finger CCCH type containing 14 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 56 OMIM
ClinVar
PMID:21734151 PMID:25741868 PMID:28492532 NCBI chr 6:118,006,420...118,044,480
Ensembl chr 6:118,006,458...118,044,105
JBrowse link
Intellectual Developmental Disorder, Autosomal Recessive 57 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mboat7 membrane bound O-acyltransferase domain containing 7 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 57 OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:27616480 PMID:31852446 NCBI chr 1:65,525,206...65,539,538
Ensembl chr 1:65,525,213...65,539,538
JBrowse link
Intellectual Developmental Disorder, Autosomal Recessive 58 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp2 elongator acetyltransferase complex subunit 2 ISO ClinVar Annotator: match by term: ELP2-Related Disorders | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 58 OMIM
ClinVar
PMID:21937992 PMID:25741868 PMID:25847581 PMID:28492532 PMID:33976153 NCBI chr18:15,885,940...15,921,564
Ensembl chr18:15,885,934...15,921,599
JBrowse link
Intellectual Developmental Disorder, Autosomal Recessive 59 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Impa1 inositol monophosphatase 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 59 OMIM
ClinVar
PMID:25741868 PMID:26416544 PMID:32839513 NCBI chr 2:91,462,781...91,484,057
Ensembl chr 2:91,462,799...91,484,313
JBrowse link
Intellectual Developmental Disorder, Autosomal Recessive 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grik2 glutamate ionotropic receptor kainate type subunit 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 6 OMIM
ClinVar
PMID:17847003 PMID:25039795 PMID:25741868 NCBI chr20:52,135,325...52,833,061
Ensembl chr20:52,133,851...52,838,375
JBrowse link
Intellectual Developmental Disorder, Autosomal Recessive 63 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camk2a calcium/calmodulin-dependent protein kinase II alpha ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 63 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 OMIM
ClinVar
PMID:25741868 PMID:29784083 NCBI chr18:54,378,642...54,441,120
Ensembl chr18:54,378,784...54,438,994
JBrowse link
Intellectual Developmental Disorder, Autosomal Recessive 67 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif3f eukaryotic translation initiation factor 3, subunit F ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 67 OMIM
ClinVar
PMID:25741868 PMID:30409806 NCBI chr 1:162,934,220...162,943,204
Ensembl chr 1:162,934,212...162,943,204
JBrowse link
Intellectual Developmental Disorder, Autosomal Recessive 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tusc3 tumor suppressor candidate 3 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER 22 | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 7 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 22 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:18452889 PMID:18455129 PMID:21681106 More... NCBI chr16:53,196,195...53,345,241
Ensembl chr16:53,196,195...53,344,781
JBrowse link
Intellectual Developmental Disorder, Autosomal Recessive 75, with Neuropsychiatric Features and Variant Lissencephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pidd1 p53-induced death domain protein 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly OMIM
ClinVar
PMID:28397838 PMID:29302074 PMID:33414379 PMID:34163010 NCBI chr 1:196,536,815...196,542,808
Ensembl chr 1:196,536,834...196,542,699
JBrowse link
Mental Retardation, Autosomal Recessive 34, with variant lissencephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cradd CASP2 and RIPK1 domain containing adaptor with death domain ISO ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY OMIM
ClinVar
PMID:22279524 PMID:25741868 PMID:27773430 NCBI chr 7:29,940,240...29,952,907
Ensembl chr 7:29,798,586...29,952,907
JBrowse link
Mental Retardation, Autosomal Recessive 40 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Taf2 TATA-box binding protein associated factor 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH FEEDING DIFFICULTIES, THIN CORPUS CALLOSUM, AND FOOT DEFORMITY OMIM
ClinVar
PMID:18414213 PMID:21937992 PMID:22633631 PMID:24084144 PMID:25741868 More... NCBI chr 7:86,422,613...86,479,616
Ensembl chr 7:86,422,613...86,479,616
JBrowse link
G Tbxt T-box transcription factor T ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH FEEDING DIFFICULTIES, THIN CORPUS CALLOSUM, AND FOOT DEFORMITY ClinVar PMID:25741868 NCBI chr 1:52,298,099...52,309,813
Ensembl chr 1:52,298,099...52,305,864
JBrowse link
Mental Retardation, Autosomal Recessive 42 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgap1 post-GPI attachment to proteins inositol deacylase 1 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 9 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FEATURES, SPASTICITY, AND BRAIN ABNORMALITIES OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:17711852 PMID:24482476 More... NCBI chr 9:55,975,574...56,044,325
Ensembl chr 9:55,975,667...56,044,464
JBrowse link
Mental Retardation, Autosomal Recessive 49 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpt2 glutamic--pyruvic transaminase 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY OMIM
ClinVar
PMID:25741868 PMID:25758935 PMID:27601654 PMID:28374019 PMID:29226631 More... NCBI chr19:21,526,800...21,561,314
Ensembl chr19:21,517,621...21,560,610
JBrowse link
Mental Retardation, Autosomal Recessive 53 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5me ATP synthase membrane subunit e ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 13 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY ClinVar PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 NCBI chr14:1,319,868...1,320,996
Ensembl chr14:1,319,868...1,321,013
JBrowse link
G Cplx1 complexin 1 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 13 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY ClinVar PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 NCBI chr14:1,184,638...1,216,392 JBrowse link
G Dgkq diacylglycerol kinase, theta ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 13 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY ClinVar PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 NCBI chr14:1,059,125...1,073,131
Ensembl chr14:1,059,170...1,073,131
JBrowse link
G Gak cyclin G associated kinase ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 13 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY ClinVar PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 NCBI chr14:1,089,853...1,164,098
Ensembl chr14:1,089,866...1,216,398
JBrowse link
G Gtpbp3 GTP binding protein 3 ISO ClinVar Annotator: match by term: PIGG-related neurodevelopmental disorder ClinVar PMID:25741868 PMID:28492532 NCBI chr16:18,175,766...18,180,857
Ensembl chr16:18,175,766...18,180,857
JBrowse link
G Idua alpha-L-iduronidase ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 13 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY ClinVar PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 NCBI chr14:1,031,588...1,059,494
Ensembl chr14:1,032,171...1,046,522
JBrowse link
G Pcgf3 polycomb group ring finger 3 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 13 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY ClinVar PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 NCBI chr14:1,237,594...1,291,717
Ensembl chr14:1,233,947...1,291,793
JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 13 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY ClinVar PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450
JBrowse link
G Pigg phosphatidylinositol glycan anchor biosynthesis, class G ISO ClinVar Annotator: match by term: EMM-NULL PHENOTYPE | ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 13 | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 53 | ClinVar Annotator: match by term: Mental retardation, autosomal recessive 53 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY OMIM
ClinVar
PMID:3603660 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 More... NCBI chr14:1,404,911...1,433,199
Ensembl chr14:1,406,798...1,433,187
JBrowse link
G Slc26a1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 13 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY ClinVar PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 NCBI chr14:1,040,565...1,045,851
Ensembl chr14:1,040,243...1,045,849
JBrowse link
G Slc49a3 solute carrier family 49 member 3 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 13 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY ClinVar PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 NCBI chr14:1,305,091...1,319,723
Ensembl chr14:1,305,680...1,314,132
JBrowse link
G Sptbn1 spectrin, beta, non-erythrocytic 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY ClinVar PMID:25741868 NCBI chr14:103,842,684...104,008,507
Ensembl chr14:103,842,684...104,008,507
JBrowse link
G Tmem175 transmembrane protein 175 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 13 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY ClinVar PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 NCBI chr14:1,073,410...1,089,764
Ensembl chr14:1,073,523...1,089,819
JBrowse link
Mental Retardation, Autosomal Recessive 60 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Taf13 TATA-box binding protein associated factor 13 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 60 | ClinVar Annotator: match by term: Mental retardation, autosomal recessive 60 OMIM
ClinVar
PMID:25741868 PMID:28257693 NCBI chr 2:196,205,219...196,215,882
Ensembl chr 2:196,205,243...196,215,878
JBrowse link
Mental Retardation, Autosomal Recessive 64 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lingo1 leucine rich repeat and Ig domain containing 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 64 | ClinVar Annotator: match by term: Mental retardation, autosomal recessive 64 OMIM
ClinVar
PMID:25741868 PMID:28837161 NCBI chr 8:57,011,272...57,193,496
Ensembl chr 8:57,010,007...57,196,544
JBrowse link
Mental Retardation, Autosomal Recessive 65 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdm5b lysine demethylase 5B ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 65 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29276005 PMID:30217758 PMID:30409806 NCBI chr13:46,001,589...46,073,868
Ensembl chr13:46,002,542...46,073,872
JBrowse link
Mental Retardation, Autosomal Recessive 66 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank3 ankyrin 3 ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 66 ClinVar PMID:25741868 NCBI chr20:18,602,267...19,225,831
Ensembl chr20:18,602,786...19,086,300
JBrowse link
G RGD1311164 similar to DNA segment, Chr 6, Wayne State University 163, expressed ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive 66 OMIM
ClinVar
PMID:25558065 PMID:25741868 PMID:27311568 PMID:28097321 PMID:31334606 NCBI chr 4:159,772,693...159,809,322
Ensembl chr 4:159,772,786...159,806,382
JBrowse link
Mental Retardation, Autosomal Recessive 68 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trmt1 tRNA methyltransferase 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 68 OMIM
ClinVar
PMID:21937992 PMID:25741868 PMID:26308914 PMID:30289604 NCBI chr19:23,456,756...23,471,581
Ensembl chr19:23,456,756...23,466,956
JBrowse link
Mental Retardation, Autosomal Recessive 69 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zbtb11 zinc finger and BTB domain containing 11 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 69 OMIM
ClinVar
PMID:25741868 PMID:29893856 NCBI chr11:44,598,694...44,652,559
Ensembl chr11:44,616,289...44,651,050
JBrowse link
Mental Retardation, Autosomal Recessive 70 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rsrc1 arginine and serine rich coiled-coil 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 70 OMIM
ClinVar
PMID:25741868 PMID:28640246 PMID:29522154 PMID:32227164 NCBI chr 2:151,226,821...151,632,771
Ensembl chr 2:151,231,156...151,632,765
JBrowse link
Mental Retardation, Autosomal Recessive 71 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alkbh8 alkB homolog 8, tRNA methyltransferase ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 71 OMIM
ClinVar
PMID:25741868 PMID:31079898 NCBI chr 6:378,779...449,382
Ensembl chr 6:378,100...452,165
JBrowse link
Mental Retardation, Autosomal Recessive 76 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 ISO OMIM NCBI chr10:41,210,713...41,527,283
Ensembl chr10:41,210,713...41,527,283
JBrowse link
neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adat3 adenosine deaminase, tRNA-specific 3 ISO ClinVar Annotator: match by term: Intellectual disability-strabismus syndrome OMIM
ClinVar
PMID:23620220 PMID:25558065 PMID:25741868 PMID:26842963 PMID:29796286 More... NCBI chr 7:9,109,070...9,113,673
Ensembl chr 7:9,101,187...9,115,340
JBrowse link
G Scamp4 secretory carrier membrane protein 4 ISO ClinVar Annotator: match by term: Intellectual disability-strabismus syndrome ClinVar PMID:23620220 PMID:25558065 PMID:25741868 PMID:26842963 PMID:29796286 More... NCBI chr 7:9,101,504...9,113,929
Ensembl chr 7:9,101,489...9,113,967
JBrowse link
Neurodevelopmental Disorder with Microcephaly and Gray Sclerae term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyls1 HYLS1, centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE ClinVar PMID:25741868 PMID:27055666 PMID:28454995 PMID:28492532 PMID:30697592 More... NCBI chr 8:33,913,016...33,922,125
Ensembl chr 8:33,912,692...33,921,760
JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE OMIM
ClinVar
PMID:25741868 PMID:27055666 PMID:28454995 PMID:28492532 PMID:30697592 More... NCBI chr 8:33,910,461...33,918,716
Ensembl chr 8:33,911,357...33,918,714
JBrowse link
Rafiq syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Man1b1 mannosidase, alpha, class 1B, member 1 ISO ClinVar Annotator: match by term: MAN1B1-CDG | ClinVar Annotator: match by term: Rafiq syndrome OMIM
ClinVar
PMID:18414213 PMID:21763484 PMID:24348268 PMID:24566669 PMID:25741868 More... NCBI chr 3:8,143,877...8,165,007
Ensembl chr 3:8,143,381...8,165,006
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Neurodevelopmental Disorders 6147
        intellectual disability 3942
          autosomal recessive intellectual developmental disorder 72
            Intellectual Developmental Disorder, Autosomal Recessive 1 1
            Intellectual Developmental Disorder, Autosomal Recessive 10 0
            Intellectual Developmental Disorder, Autosomal Recessive 11 0
            Intellectual Developmental Disorder, Autosomal Recessive 12 1
            Intellectual Developmental Disorder, Autosomal Recessive 14 1
            Intellectual Developmental Disorder, Autosomal Recessive 16 0
            Intellectual Developmental Disorder, Autosomal Recessive 18 2
            Intellectual Developmental Disorder, Autosomal Recessive 19 0
            Intellectual Developmental Disorder, Autosomal Recessive 2 2
            Intellectual Developmental Disorder, Autosomal Recessive 23 0
            Intellectual Developmental Disorder, Autosomal Recessive 24 0
            Intellectual Developmental Disorder, Autosomal Recessive 25 0
            Intellectual Developmental Disorder, Autosomal Recessive 27 1
            Intellectual Developmental Disorder, Autosomal Recessive 28 0
            Intellectual Developmental Disorder, Autosomal Recessive 29 0
            Intellectual Developmental Disorder, Autosomal Recessive 3 1
            Intellectual Developmental Disorder, Autosomal Recessive 30 0
            Intellectual Developmental Disorder, Autosomal Recessive 31 0
            Intellectual Developmental Disorder, Autosomal Recessive 33 0
            Intellectual Developmental Disorder, Autosomal Recessive 35 0
            Intellectual Developmental Disorder, Autosomal Recessive 37 1
            Intellectual Developmental Disorder, Autosomal Recessive 38 1
            Intellectual Developmental Disorder, Autosomal Recessive 39 2
            Intellectual Developmental Disorder, Autosomal Recessive 4 0
            Intellectual Developmental Disorder, Autosomal Recessive 41 2
            Intellectual Developmental Disorder, Autosomal Recessive 43 1
            Intellectual Developmental Disorder, Autosomal Recessive 44 1
            Intellectual Developmental Disorder, Autosomal Recessive 45 1
            Intellectual Developmental Disorder, Autosomal Recessive 46 1
            Intellectual Developmental Disorder, Autosomal Recessive 47 1
            Intellectual Developmental Disorder, Autosomal Recessive 48 2
            Intellectual Developmental Disorder, Autosomal Recessive 5 2
            Intellectual Developmental Disorder, Autosomal Recessive 50 1
            Intellectual Developmental Disorder, Autosomal Recessive 51 1
            Intellectual Developmental Disorder, Autosomal Recessive 52 1
            Intellectual Developmental Disorder, Autosomal Recessive 54 1
            Intellectual Developmental Disorder, Autosomal Recessive 56 1
            Intellectual Developmental Disorder, Autosomal Recessive 57 1
            Intellectual Developmental Disorder, Autosomal Recessive 58 1
            Intellectual Developmental Disorder, Autosomal Recessive 59 1
            Intellectual Developmental Disorder, Autosomal Recessive 6 1
            Intellectual Developmental Disorder, Autosomal Recessive 63 1
            Intellectual Developmental Disorder, Autosomal Recessive 67 1
            Intellectual Developmental Disorder, Autosomal Recessive 7 1
            Intellectual Developmental Disorder, Autosomal Recessive 75, with Neuropsychiatric Features and Variant Lissencephaly 1
            Intellectual Developmental Disorder, Autosomal Recessive 9 0
            Mental Retardation, Autosomal Recessive 34, with variant lissencephaly 1
            Mental Retardation, Autosomal Recessive 40 2
            Mental Retardation, Autosomal Recessive 42 1
            Mental Retardation, Autosomal Recessive 49 1
            Mental Retardation, Autosomal Recessive 53 13
            Mental Retardation, Autosomal Recessive 60 1
            Mental Retardation, Autosomal Recessive 64 1
            Mental Retardation, Autosomal Recessive 65 1
            Mental Retardation, Autosomal Recessive 66 2
            Mental Retardation, Autosomal Recessive 68 1
            Mental Retardation, Autosomal Recessive 69 1
            Mental Retardation, Autosomal Recessive 70 1
            Mental Retardation, Autosomal Recessive 71 1
            Mental Retardation, Autosomal Recessive 76 1
            Neurodevelopmental Disorder with Microcephaly and Gray Sclerae 2
            Rafiq syndrome 1
            autosomal recessive intellectual developmental disorder 13 1
            autosomal recessive intellectual developmental disorder 61 1
            autosomal recessive intellectual developmental disorder 72 1
            neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies 2
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      nervous system disease 13174
        central nervous system disease 11297
          brain disease 10584
            disease of mental health 7496
              developmental disorder of mental health 4864
                specific developmental disorder 4125
                  intellectual disability 3942
                    autosomal recessive intellectual developmental disorder 72
                      Intellectual Developmental Disorder, Autosomal Recessive 1 1
                      Intellectual Developmental Disorder, Autosomal Recessive 10 0
                      Intellectual Developmental Disorder, Autosomal Recessive 11 0
                      Intellectual Developmental Disorder, Autosomal Recessive 12 1
                      Intellectual Developmental Disorder, Autosomal Recessive 14 1
                      Intellectual Developmental Disorder, Autosomal Recessive 16 0
                      Intellectual Developmental Disorder, Autosomal Recessive 18 2
                      Intellectual Developmental Disorder, Autosomal Recessive 19 0
                      Intellectual Developmental Disorder, Autosomal Recessive 2 2
                      Intellectual Developmental Disorder, Autosomal Recessive 23 0
                      Intellectual Developmental Disorder, Autosomal Recessive 24 0
                      Intellectual Developmental Disorder, Autosomal Recessive 25 0
                      Intellectual Developmental Disorder, Autosomal Recessive 27 1
                      Intellectual Developmental Disorder, Autosomal Recessive 28 0
                      Intellectual Developmental Disorder, Autosomal Recessive 29 0
                      Intellectual Developmental Disorder, Autosomal Recessive 3 1
                      Intellectual Developmental Disorder, Autosomal Recessive 30 0
                      Intellectual Developmental Disorder, Autosomal Recessive 31 0
                      Intellectual Developmental Disorder, Autosomal Recessive 33 0
                      Intellectual Developmental Disorder, Autosomal Recessive 35 0
                      Intellectual Developmental Disorder, Autosomal Recessive 37 1
                      Intellectual Developmental Disorder, Autosomal Recessive 38 1
                      Intellectual Developmental Disorder, Autosomal Recessive 39 2
                      Intellectual Developmental Disorder, Autosomal Recessive 4 0
                      Intellectual Developmental Disorder, Autosomal Recessive 41 2
                      Intellectual Developmental Disorder, Autosomal Recessive 43 1
                      Intellectual Developmental Disorder, Autosomal Recessive 44 1
                      Intellectual Developmental Disorder, Autosomal Recessive 45 1
                      Intellectual Developmental Disorder, Autosomal Recessive 46 1
                      Intellectual Developmental Disorder, Autosomal Recessive 47 1
                      Intellectual Developmental Disorder, Autosomal Recessive 48 2
                      Intellectual Developmental Disorder, Autosomal Recessive 5 2
                      Intellectual Developmental Disorder, Autosomal Recessive 50 1
                      Intellectual Developmental Disorder, Autosomal Recessive 51 1
                      Intellectual Developmental Disorder, Autosomal Recessive 52 1
                      Intellectual Developmental Disorder, Autosomal Recessive 54 1
                      Intellectual Developmental Disorder, Autosomal Recessive 56 1
                      Intellectual Developmental Disorder, Autosomal Recessive 57 1
                      Intellectual Developmental Disorder, Autosomal Recessive 58 1
                      Intellectual Developmental Disorder, Autosomal Recessive 59 1
                      Intellectual Developmental Disorder, Autosomal Recessive 6 1
                      Intellectual Developmental Disorder, Autosomal Recessive 63 1
                      Intellectual Developmental Disorder, Autosomal Recessive 67 1
                      Intellectual Developmental Disorder, Autosomal Recessive 7 1
                      Intellectual Developmental Disorder, Autosomal Recessive 75, with Neuropsychiatric Features and Variant Lissencephaly 1
                      Intellectual Developmental Disorder, Autosomal Recessive 9 0
                      Mental Retardation, Autosomal Recessive 34, with variant lissencephaly 1
                      Mental Retardation, Autosomal Recessive 40 2
                      Mental Retardation, Autosomal Recessive 42 1
                      Mental Retardation, Autosomal Recessive 49 1
                      Mental Retardation, Autosomal Recessive 53 13
                      Mental Retardation, Autosomal Recessive 60 1
                      Mental Retardation, Autosomal Recessive 64 1
                      Mental Retardation, Autosomal Recessive 65 1
                      Mental Retardation, Autosomal Recessive 66 2
                      Mental Retardation, Autosomal Recessive 68 1
                      Mental Retardation, Autosomal Recessive 69 1
                      Mental Retardation, Autosomal Recessive 70 1
                      Mental Retardation, Autosomal Recessive 71 1
                      Mental Retardation, Autosomal Recessive 76 1
                      Neurodevelopmental Disorder with Microcephaly and Gray Sclerae 2
                      Rafiq syndrome 1
                      autosomal recessive intellectual developmental disorder 13 1
                      autosomal recessive intellectual developmental disorder 61 1
                      autosomal recessive intellectual developmental disorder 72 1
                      neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies 2
paths to the root