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 non-syndromic intellectual disability
Accession: DOID:0060308
browse the term
Definition: A non-syndromic intellectual disability characterized by an autosomal recessive inheritance pattern. (DO)
Synonyms: exact_synonym: autosomal recessive mental retardation; autosomal recessive non-syndromic mental retardation
primary_id: RDO:9004979
xref: OMIM:PS249500 ; ORDO:88616
For additional species annotation, visit the
Alliance of Genome Resources .
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 chr20:19,948,767...20,480,628
Ensembl chr20:20,105,047...20,480,623
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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 chr19:25,246,912...25,261,965
Ensembl chr19:25,246,913...25,261,946
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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 7:36,395,665...36,408,588
Ensembl chr 7:36,395,665...36,408,588
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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 4:138,864,910...138,885,786
Ensembl chr 4:138,866,761...138,885,556
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Cyhr1
cysteine and histidine rich 1
ISO
ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability
ClinVar
PMID:30787422
NCBI chr 7:117,720,909...117,722,734
Ensembl chr 7:117,706,727...117,722,723
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Eef1d
eukaryotic translation elongation factor 1 delta
ISO
ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability
ClinVar
PMID:30787422
NCBI chr 7:116,928,264...116,942,981
Ensembl chr 7:116,928,265...116,936,674
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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 chr20:53,791,428...54,517,691
Ensembl chr20:53,789,760...54,517,709
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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 1:114,453,033...114,653,787
Ensembl chr 1:114,453,054...114,653,793
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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 1:78,015,714...78,016,508
Ensembl chr 1:78,015,722...78,023,676
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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 1:127,599,647...127,625,583
Ensembl chr 1:127,604,197...127,625,577
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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 1:21,539,765...21,587,675
Ensembl chr 1:21,539,765...21,586,910
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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 chr10:105,787,935...105,793,307
Ensembl chr10:105,787,935...105,792,598
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Mroh6
maestro heat-like repeat family member 6
ISO
ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability
ClinVar
PMID:30787422
NCBI chr 7:116,914,826...116,921,487
Ensembl chr 7:116,915,888...116,920,507
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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 1:36,295,650...36,319,906
Ensembl chr 1:36,295,650...36,319,966
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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 9:61,066,170...61,134,963
Ensembl chr 9:61,066,175...61,134,963
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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 2:227,657,983...227,717,884
Ensembl chr 2:227,657,983...227,717,884
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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 5:136,765,309...136,965,642
Ensembl chr 5:136,766,208...136,965,191
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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 7:94,698,987...94,755,924
Ensembl chr 7:94,698,987...94,755,924
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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 chr19:24,705,478...24,732,024
Ensembl chr19:24,705,481...24,732,024
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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 chr16:64,737,342...64,745,207
Ensembl chr16:64,737,340...64,745,207
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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 chr16:56,248,125...56,396,491
Ensembl chr16:56,247,659...56,396,502
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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 7:26,309,279...26,361,221
Ensembl chr 7:26,311,094...26,361,221
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Rusc2
RUN and SH3 domain containing 2
ISO
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 ClinVar Annotator: match by term: ALWADEI SYNDROME
ClinVar OMIM
PMID:25741868 PMID:27612186
NCBI chr 5:58,860,444...58,883,152
Ensembl chr 5:58,855,773...58,882,096
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Prss12
serine protease 12
ISO
ClinVar Annotator: match by term: Mental retardation, autosomal recessive 1 ClinVar Annotator: match by null
OMIM ClinVar
PMID:12459588 PMID:18414213 PMID:25741868 PMID:28492532
NCBI chr 2:227,657,983...227,717,884
Ensembl chr 2:227,657,983...227,717,884
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St3gal3
ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ISO
ClinVar Annotator: match by term: Mental retardation, autosomal recessive 12 ClinVar Annotator: match by null
OMIM ClinVar
PMID:17120046 PMID:18414213 PMID:21907012 PMID:25741868 PMID:28492532 PMID:32666583
NCBI chr 5:136,765,309...136,965,642
Ensembl chr 5:136,766,208...136,965,191
G
Tecr
trans-2,3-enoyl-CoA reductase
ISO
ClinVar Annotator: match by OMIM:614020
OMIM ClinVar
PMID:11590547 PMID:21212097 PMID:22981120 PMID:24220030
NCBI chr19:24,705,478...24,732,024
Ensembl chr19:24,705,481...24,732,024
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Man1b1
mannosidase, alpha, class 1B, member 1
ISO
ClinVar Annotator: match by term: Mental retardation, autosomal recessive 15 ClinVar Annotator: match by OMIM:614202
OMIM ClinVar
PMID:18414213 PMID:21763484 PMID:24348268 PMID:24566669 PMID:25741868 PMID:26279649 PMID:27148587 PMID:28492532 PMID:28940310 PMID:29908352
NCBI chr 3:2,547,259...2,569,051
Ensembl chr 3:2,547,986...2,569,049
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Arg1
arginase 1
ISO
ClinVar Annotator: match by term: Mental retardation, autosomal recessive 18
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:21,525,421...21,537,872
Ensembl chr 1:21,525,421...21,537,863
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Med23
mediator complex subunit 23
ISO
ClinVar Annotator: match by term: Mental retardation, autosomal recessive 18 ClinVar Annotator: match by OMIM:614249
OMIM ClinVar
PMID:21868677 PMID:25741868 PMID:28492532
NCBI chr 1:21,539,765...21,587,675
Ensembl chr 1:21,539,765...21,586,910
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Crbn
cereblon
ISO
ClinVar Annotator: match by term: Mental retardation, autosomal recessive 2
OMIM ClinVar
PMID:10932263 PMID:15557513 PMID:18414909 PMID:23983124 PMID:24088041 PMID:24993823 PMID:25741868 PMID:26633545 PMID:28143899 PMID:28492532
NCBI chr 4:138,864,910...138,885,786
Ensembl chr 4:138,866,761...138,885,556
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Trnt1
tRNA nucleotidyl transferase 1
ISO
ClinVar Annotator: match by term: Mental retardation, autosomal recessive 2
ClinVar
PMID:10932263 PMID:15557513 PMID:18414909 PMID:23983124 PMID:24088041 PMID:24993823 PMID:26633545 PMID:28143899 PMID:28492532
NCBI chr 4:138,855,497...138,869,217
Ensembl chr 4:138,855,641...138,869,217
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Lins1
lines homolog 1
ISO
ClinVar Annotator: match by OMIM:614340 ClinVar Annotator: match by term: Mental retardation, autosomal recessive 27
ClinVar OMIM
PMID:21937992 PMID:23773660 PMID:25741868 PMID:28492532
NCBI chr 1:127,599,647...127,625,583
Ensembl chr 1:127,604,197...127,625,577
G
Cc2d1a
coiled-coil and C2 domain containing 1A
ISO
ClinVar Annotator: match by term: Mental retardation, autosomal recessive 3 ClinVar Annotator: match by OMIM:608443
OMIM ClinVar
PMID:16033914 PMID:24026677 PMID:24033266 PMID:25066123 PMID:25741868 PMID:26350204 PMID:27799067 PMID:28492532
NCBI chr19:25,246,912...25,261,965
Ensembl chr19:25,246,913...25,261,946
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 ClinVar Annotator: match by OMIM:614499
OMIM ClinVar
PMID:22279524 PMID:25741868 PMID:27773430
NCBI chr 7:36,395,665...36,408,588
Ensembl chr 7:36,395,665...36,408,588
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Adat3
adenosine deaminase, tRNA-specific 3
ISO
ClinVar Annotator: match by term: Mental retardation, autosomal recessive 36
OMIM ClinVar
PMID:23620220 PMID:25558065 PMID:25741868 PMID:26842963 PMID:29796286 PMID:32214227 PMID:32860008
NCBI chr 7:11,977,285...11,981,814
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Scamp4
secretory carrier membrane protein 4
ISO
ClinVar Annotator: match by term: Mental retardation, autosomal recessive 36
ClinVar
PMID:23620220 PMID:25558065 PMID:25741868 PMID:26842963 PMID:29796286 PMID:32214227 PMID:32860008
NCBI chr 7:11,969,720...11,982,141
Ensembl chr 7:11,969,720...11,982,141
G
Ank3
ankyrin 3
ISO
ClinVar Annotator: match by term: Mental retardation, autosomal recessive 37 ClinVar Annotator: match by OMIM:615493
OMIM ClinVar
PMID:23390136 PMID:25741868 PMID:28492532 PMID:29302074
NCBI chr20:19,948,767...20,480,628
Ensembl chr20:20,105,047...20,480,623
G
Herc2
HECT and RLD domain containing E3 ubiquitin protein ligase 2
ISO
ClinVar Annotator: match by term: Mental retardation, autosomal recessive 38 ClinVar Annotator: match by OMIM:615516
OMIM ClinVar
PMID:23065719 PMID:23243086 PMID:24033266 PMID:25741868
NCBI chr 1:114,453,033...114,653,787
Ensembl chr 1:114,453,054...114,653,793
G
Mak16
MAK16 homolog
ISO
ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar
PMID:23956177
NCBI chr16:64,729,254...64,737,807
Ensembl chr16:64,729,221...64,737,807
G
Tti2
TELO2 interacting protein 2
ISO
ClinVar Annotator: match by term: Mental retardation, autosomal recessive 39 ClinVar Annotator: match by OMIM:615541
OMIM ClinVar
PMID:21937992 PMID:23956177 PMID:25741868
NCBI chr16:64,737,342...64,745,207
Ensembl chr16:64,737,340...64,745,207
G
Taf2
TATA-box binding protein associated factor 2
ISO
ClinVar Annotator: match by term: Mental retardation, autosomal recessive 40 ClinVar Annotator: match by OMIM:615599
OMIM ClinVar
PMID:18414213 PMID:21937992 PMID:22633631 PMID:24084144
NCBI chr 7:94,698,987...94,755,924
Ensembl chr 7:94,698,987...94,755,924
G
Kptn
kaptin (actin binding protein)
ISO
ClinVar Annotator: match by term: Mental retardation, autosomal recessive 41
OMIM ClinVar
PMID:24239382 PMID:25741868 PMID:25847626 PMID:28492532 PMID:32238909
NCBI chr 1:78,015,714...78,016,508
Ensembl chr 1:78,015,722...78,023,676
G
Pgap1
post-GPI attachment to proteins inositol deacylase 1
ISO
ClinVar Annotator: match by term: Mental retardation, autosomal recessive 42
OMIM ClinVar
PMID:17711852 PMID:25741868 PMID:25804403 PMID:26350515 PMID:28492532
NCBI chr 9:61,066,170...61,134,963
Ensembl chr 9:61,066,175...61,134,963
G
Washc4
WASH complex subunit 4
ISO
ClinVar Annotator: match by term: Mental retardation, autosomal recessive 43 ClinVar Annotator: match by OMIM:615817
OMIM ClinVar
PMID:21498477 PMID:25741868
NCBI chr 7:26,309,279...26,361,221
Ensembl chr 7:26,311,094...26,361,221
G
Mettl23
methyltransferase like 23
ISO
ClinVar Annotator: match by term: Mental retardation, autosomal recessive 44
ClinVar OMIM
PMID:24501276 PMID:24626631 PMID:25741868 PMID:32860008
NCBI chr10:105,787,935...105,793,307
Ensembl chr10:105,787,935...105,792,598
G
Fbxo31
F-box protein 31
ISO
OMIM
NCBI chr19:53,487,610...53,625,673
Ensembl chr19:53,487,613...53,625,673
G
Ndst1
N-deacetylase and N-sulfotransferase 1
ISO
ClinVar Annotator: match by term: Mental retardation, autosomal recessive 46 ClinVar Annotator: match by OMIM:616116
OMIM ClinVar
PMID:21937992 PMID:25125150 PMID:25741868 PMID:27620904 PMID:27870114
NCBI chr18:55,951,497...56,014,107
Ensembl chr18:55,955,389...55,992,885
G
Fmn2
formin 2
ISO
ClinVar Annotator: match by term: Mental retardation, autosomal recessive 47
ClinVar OMIM
PMID:25480035 PMID:25741868
NCBI chr13:92,569,256...92,887,302
G
Slc6a17
solute carrier family 6 member 17
ISO
ClinVar Annotator: match by term: Mental retardation, autosomal recessive 48
ClinVar OMIM
PMID:25704603
NCBI chr 2:210,249,663...210,299,770
Ensembl chr 2:210,249,663...210,299,770
G
Gpt2
glutamic--pyruvic transaminase 2
ISO
ClinVar Annotator: match by term: Mental retardation, autosomal recessive 49
ClinVar OMIM
PMID:25741868 PMID:25758935 PMID:27601654 PMID:28374019 PMID:29226631 PMID:29882329 PMID:31471722 PMID:32214227
NCBI chr19:22,599,003...22,633,529
Ensembl chr19:22,590,881...22,632,071
G
Nsun2
NOP2/Sun RNA methyltransferase 2
ISO
ClinVar Annotator: match by term: Mental retardation, autosomal recessive 5 ClinVar Annotator: match by null ClinVar Annotator: match by OMIM:611091
OMIM ClinVar
PMID:17120046 PMID:18414213 PMID:21063731 PMID:22541559 PMID:22541562 PMID:22577224 PMID:25741868 PMID:28492532 PMID:32860008
NCBI chr 1:36,295,650...36,319,906
Ensembl chr 1:36,295,650...36,319,966
G
Syngap1
synaptic Ras GTPase activating protein 1
ISO
ClinVar Annotator: match by term: Mental retardation, autosomal recessive 5
ClinVar
PMID:26989088 PMID:27334371 PMID:28492532
NCBI chr20:5,535,434...5,564,657
Ensembl chr20:5,535,432...5,564,437
G
Edc3
enhancer of mRNA decapping 3
ISO
ClinVar Annotator: match by term: Mental retardation, autosomal recessive 50
ClinVar OMIM
PMID:25701870
NCBI chr 8:62,482,126...62,527,665
Ensembl chr 8:62,482,140...62,526,202
G
Hnmt
histamine N-methyltransferase
ISO
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51
ClinVar OMIM
PMID:26206890
NCBI chr 3:905,111...937,038
Ensembl chr 3:904,765...937,102
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Lman2l
lectin, mannose-binding 2-like
ISO
ClinVar Annotator: match by term: Mental retardation, autosomal recessive 52
ClinVar OMIM
PMID:26566883
NCBI chr 9:43,020,940...43,023,015
Ensembl chr 9:42,999,229...43,022,999
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Pigg
phosphatidylinositol glycan anchor biosynthesis, class G
ISO
ClinVar Annotator: match by term: Mental retardation, autosomal recessive 53
ClinVar OMIM
PMID:25741868 PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251
NCBI chr14:2,410,339...2,438,630
Ensembl chr14:2,410,342...2,438,592
G
Tnik
TRAF2 and NCK interacting kinase
ISO
ClinVar Annotator: match by term: Mental retardation, autosomal recessive 54
ClinVar OMIM
PMID:27106596
NCBI chr 2:113,984,599...114,391,805
Ensembl chr 2:113,984,646...114,384,894
G
Hyls1
HYLS1, centriolar and ciliogenesis associated
ISO
ClinVar Annotator: match by term: Mental retardation, autosomal recessive 55
ClinVar
PMID:25741868 PMID:27055666 PMID:28454995 PMID:31474318
NCBI chr 8:36,763,470...36,772,199
Ensembl chr 8:36,763,481...36,764,422
G
Pus3
pseudouridine synthase 3
ISO
ClinVar Annotator: match by term: Mental retardation, autosomal recessive 55
OMIM ClinVar
PMID:25741868 PMID:27055666 PMID:28454995 PMID:31474318
NCBI chr 8:36,760,874...36,769,167
Ensembl chr 8:36,766,977...36,769,162
G
Zc3h14
zinc finger CCCH type containing 14
ISO
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 56 ClinVar Annotator: match by term: Mental retardation, autosomal recessive 56
ClinVar OMIM
PMID:21734151 PMID:25741868 PMID:28492532
NCBI chr 6:122,729,834...122,767,462
Ensembl chr 6:122,729,874...122,767,462
G
Mboat7
membrane bound O-acyltransferase domain containing 7
ISO
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 ClinVar Annotator: match by term: Mental retardation, autosomal recessive 57
ClinVar OMIM
PMID:25741868 PMID:27616480
NCBI chr 1:64,100,159...64,114,437
Ensembl chr 1:64,101,018...64,113,792
G
Elp2
elongator acetyltransferase complex subunit 2
ISO
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 ClinVar Annotator: match by term: Mental retardation, autosomal recessive 58 ClinVar Annotator: match by term: ELP2-Related Disorders
ClinVar OMIM
PMID:21937992 PMID:25741868 PMID:25847581
NCBI chr18:16,544,515...16,581,086
Ensembl chr18:16,544,508...16,581,116
G
Impa1
inositol monophosphatase 1
ISO
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 59
ClinVar OMIM
PMID:26416544
NCBI chr 2:93,675,203...93,696,355
Ensembl chr 2:93,675,203...93,696,232
G
Grik2
glutamate ionotropic receptor kainate type subunit 2
ISO
ClinVar Annotator: match by OMIM:611092 ClinVar Annotator: match by null
OMIM ClinVar
PMID:17847003 PMID:25039795
NCBI chr20:53,791,428...54,517,691
Ensembl chr20:53,789,760...54,517,709
G
Taf13
TATA-box binding protein associated factor 13
ISO
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60
ClinVar OMIM
PMID:28257693
NCBI chr 2:211,359,623...211,370,285
Ensembl chr 2:211,359,623...211,370,284
G
Camk2a
calcium/calmodulin-dependent protein kinase II alpha
ISO
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63
ClinVar OMIM
PMID:29784083
NCBI chr18:56,193,978...56,295,869
Ensembl chr18:56,193,978...56,295,869
G
Lingo1
leucine rich repeat and Ig domain containing 1
ISO
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64
ClinVar OMIM
PMID:28837161
NCBI chr 8:61,272,125...61,455,480
Ensembl chr 8:61,274,017...61,290,240
G
Kdm5b
lysine demethylase 5B
ISO
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65
ClinVar OMIM
PMID:25741868 PMID:29276005 PMID:30217758 PMID:30409806
NCBI chr13:51,384,371...51,455,392
Ensembl chr13:51,384,389...51,455,357
G
RGD1311164
similar to DNA segment, Chr 6, Wayne State University 163, expressed
ISO
ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66
ClinVar OMIM
PMID:25558065 PMID:25741868 PMID:27311568 PMID:28097321 PMID:31334606
NCBI chr 4:159,483,089...159,518,387
Ensembl chr 4:159,483,131...159,515,447
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 1:173,532,826...173,541,806
Ensembl chr 1:173,532,803...173,541,847
G
Trmt1
tRNA methyltransferase 1
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68
ClinVar OMIM
PMID:21937992 PMID:25741868 PMID:26308914 PMID:30289604
NCBI chr19:25,798,262...25,813,458
Ensembl chr19:25,803,262...25,813,467
G
Zbtb11
zinc finger and BTB domain containing 11
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69
OMIM ClinVar
PMID:29893856
NCBI chr11:47,079,201...47,113,993
Ensembl chr11:47,079,234...47,113,993
G
Tusc3
tumor suppressor candidate 3
ISO
ClinVar Annotator: match by term: Mental retardation, autosomal recessive 7 ClinVar Annotator: match by OMIM:611093
OMIM ClinVar
PMID:18452889 PMID:18455129 PMID:21681106 PMID:21739581 PMID:23806237 PMID:25741868 PMID:27148795 PMID:28492532
NCBI chr16:56,248,125...56,396,491
Ensembl chr16:56,247,659...56,396,502
G
Rsrc1
arginine and serine rich coiled-coil 1
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70
OMIM ClinVar
PMID:28640246 PMID:29522154
NCBI chr 2:164,126,898...164,533,652
G
Alkbh8
alkB homolog 8, tRNA methyltransferase
ISO
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71
ClinVar OMIM
PMID:31079898
NCBI chr 6:18,877,885...18,952,773
Ensembl chr 6:18,877,907...18,949,393
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
16123
Developmental Diseases
9597
Neurodevelopmental Disorders
4534
intellectual disability
2171
non-syndromic intellectual disability
269
autosomal recessive non-syndromic intellectual disability
56
Mental Retardation, Autosomal Recessive 1
1
Mental Retardation, Autosomal Recessive 10
0
Mental Retardation, Autosomal Recessive 11
0
Mental Retardation, Autosomal Recessive 12
1
Mental Retardation, Autosomal Recessive 14
1
Mental Retardation, Autosomal Recessive 15
1
Mental Retardation, Autosomal Recessive 16
0
Mental Retardation, Autosomal Recessive 18
2
Mental Retardation, Autosomal Recessive 19
0
Mental Retardation, Autosomal Recessive 2
2
Mental Retardation, Autosomal Recessive 23
0
Mental Retardation, Autosomal Recessive 24
0
Mental Retardation, Autosomal Recessive 25
0
Mental Retardation, Autosomal Recessive 27
1
Mental Retardation, Autosomal Recessive 28
0
Mental Retardation, Autosomal Recessive 29
0
Mental Retardation, Autosomal Recessive 3
1
Mental Retardation, Autosomal Recessive 30
0
Mental Retardation, Autosomal Recessive 31
0
Mental Retardation, Autosomal Recessive 33
0
Mental Retardation, Autosomal Recessive 34, with variant lissencephaly
1
Mental Retardation, Autosomal Recessive 35
0
Mental Retardation, Autosomal Recessive 36
2
Mental Retardation, Autosomal Recessive 37
1
Mental Retardation, Autosomal Recessive 38
1
Mental Retardation, Autosomal Recessive 39
2
Mental Retardation, Autosomal Recessive 4
0
Mental Retardation, Autosomal Recessive 40
1
Mental Retardation, Autosomal Recessive 41
1
Mental Retardation, Autosomal Recessive 42
1
Mental Retardation, Autosomal Recessive 43
1
Mental Retardation, Autosomal Recessive 44
1
Mental Retardation, Autosomal Recessive 45
1
Mental Retardation, Autosomal Recessive 46
1
Mental Retardation, Autosomal Recessive 47
1
Mental Retardation, Autosomal Recessive 48
1
Mental Retardation, Autosomal Recessive 49
1
Mental Retardation, Autosomal Recessive 5
2
Mental Retardation, Autosomal Recessive 50
1
Mental Retardation, Autosomal Recessive 51
1
Mental Retardation, Autosomal Recessive 52
1
Mental Retardation, Autosomal Recessive 53
1
Mental Retardation, Autosomal Recessive 54
1
Mental Retardation, Autosomal Recessive 55
2
Mental Retardation, Autosomal Recessive 56
1
Mental Retardation, Autosomal Recessive 57
1
Mental Retardation, Autosomal Recessive 58
1
Mental Retardation, Autosomal Recessive 59
1
Mental Retardation, Autosomal Recessive 6
1
Mental Retardation, Autosomal Recessive 60
1
Mental Retardation, Autosomal Recessive 63
1
Mental Retardation, Autosomal Recessive 64
1
Mental Retardation, Autosomal Recessive 65
1
Mental Retardation, Autosomal Recessive 66
1
Mental Retardation, Autosomal Recessive 67
1
Mental Retardation, Autosomal Recessive 68
1
Mental Retardation, Autosomal Recessive 69
1
Mental Retardation, Autosomal Recessive 7
1
Mental Retardation, Autosomal Recessive 70
1
Mental Retardation, Autosomal Recessive 71
1
Mental Retardation, Autosomal Recessive 9
0
autosomal recessive mental retardation 61
1
Path 2
disease
16123
disease of anatomical entity
15370
nervous system disease
10975
central nervous system disease
9096
brain disease
8405
disease of mental health
5990
developmental disorder of mental health
3124
specific developmental disorder
2322
intellectual disability
2171
non-syndromic intellectual disability
269
autosomal recessive non-syndromic intellectual disability
56
Mental Retardation, Autosomal Recessive 1
1
Mental Retardation, Autosomal Recessive 10
0
Mental Retardation, Autosomal Recessive 11
0
Mental Retardation, Autosomal Recessive 12
1
Mental Retardation, Autosomal Recessive 14
1
Mental Retardation, Autosomal Recessive 15
1
Mental Retardation, Autosomal Recessive 16
0
Mental Retardation, Autosomal Recessive 18
2
Mental Retardation, Autosomal Recessive 19
0
Mental Retardation, Autosomal Recessive 2
2
Mental Retardation, Autosomal Recessive 23
0
Mental Retardation, Autosomal Recessive 24
0
Mental Retardation, Autosomal Recessive 25
0
Mental Retardation, Autosomal Recessive 27
1
Mental Retardation, Autosomal Recessive 28
0
Mental Retardation, Autosomal Recessive 29
0
Mental Retardation, Autosomal Recessive 3
1
Mental Retardation, Autosomal Recessive 30
0
Mental Retardation, Autosomal Recessive 31
0
Mental Retardation, Autosomal Recessive 33
0
Mental Retardation, Autosomal Recessive 34, with variant lissencephaly
1
Mental Retardation, Autosomal Recessive 35
0
Mental Retardation, Autosomal Recessive 36
2
Mental Retardation, Autosomal Recessive 37
1
Mental Retardation, Autosomal Recessive 38
1
Mental Retardation, Autosomal Recessive 39
2
Mental Retardation, Autosomal Recessive 4
0
Mental Retardation, Autosomal Recessive 40
1
Mental Retardation, Autosomal Recessive 41
1
Mental Retardation, Autosomal Recessive 42
1
Mental Retardation, Autosomal Recessive 43
1
Mental Retardation, Autosomal Recessive 44
1
Mental Retardation, Autosomal Recessive 45
1
Mental Retardation, Autosomal Recessive 46
1
Mental Retardation, Autosomal Recessive 47
1
Mental Retardation, Autosomal Recessive 48
1
Mental Retardation, Autosomal Recessive 49
1
Mental Retardation, Autosomal Recessive 5
2
Mental Retardation, Autosomal Recessive 50
1
Mental Retardation, Autosomal Recessive 51
1
Mental Retardation, Autosomal Recessive 52
1
Mental Retardation, Autosomal Recessive 53
1
Mental Retardation, Autosomal Recessive 54
1
Mental Retardation, Autosomal Recessive 55
2
Mental Retardation, Autosomal Recessive 56
1
Mental Retardation, Autosomal Recessive 57
1
Mental Retardation, Autosomal Recessive 58
1
Mental Retardation, Autosomal Recessive 59
1
Mental Retardation, Autosomal Recessive 6
1
Mental Retardation, Autosomal Recessive 60
1
Mental Retardation, Autosomal Recessive 63
1
Mental Retardation, Autosomal Recessive 64
1
Mental Retardation, Autosomal Recessive 65
1
Mental Retardation, Autosomal Recessive 66
1
Mental Retardation, Autosomal Recessive 67
1
Mental Retardation, Autosomal Recessive 68
1
Mental Retardation, Autosomal Recessive 69
1
Mental Retardation, Autosomal Recessive 7
1
Mental Retardation, Autosomal Recessive 70
1
Mental Retardation, Autosomal Recessive 71
1
Mental Retardation, Autosomal Recessive 9
0
autosomal recessive mental retardation 61
1