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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


show annotations for term's descendants           Sort by:
autosomal recessive intellectual developmental disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 Lhfpl5 LHFPL tetraspan subfamily member 5 ISO ClinVar Annotator: match by term: Mental retardation, autosomal recessive ClinVar PMID:27148795 NCBI chr20:6,632,324...6,642,534
Ensembl chr20:6,632,362...6,642,532 		JBrowse link
autosomal recessive intellectual developmental disorder 1 term browser
Symbol Object Name Qualifiers 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12459588 PMID:18414213 PMID:25167861 PMID:25741868 PMID:28492532 NCBI chr 2:211,624,134...211,684,126
Ensembl chr 2:211,624,134...211,684,126 		JBrowse link
autosomal recessive intellectual developmental disorder 12 term browser
Symbol Object Name Qualifiers 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 DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 12 | ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 12
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17120046 PMID:18414213 PMID:21907012 PMID:25741868 PMID:26467025 More... NCBI chr 5:131,470,348...131,670,794
Ensembl chr 5:131,470,348...131,670,810 		JBrowse link
autosomal recessive intellectual developmental disorder 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 13 ClinVar PMID:25741868 PMID:28492532 PMID:32659924 NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
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 | ClinVar Annotator: match by term: TRAPPC9-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2000476 PMID:17120046 PMID:18414213 PMID:20004763 PMID:20004764 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 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tecr trans-2,3-enoyl-CoA reductase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 14		 OMIM
CTD
ClinVar		 PMID:11590547 PMID:21212097 PMID:22981120 PMID:24220030 PMID:25741868 NCBI chr19:24,526,700...24,568,168
Ensembl chr19:24,541,615...24,568,168 		JBrowse link
autosomal recessive intellectual developmental disorder 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arg1 arginase 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 18 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, WITH OR WITHOUT EPILEPSY | ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 18
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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
autosomal recessive intellectual developmental disorder 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crbn cereblon ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 2 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2A		 OMIM
CTD
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
autosomal recessive intellectual developmental disorder 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tusc3 tumor suppressor candidate 3 ISO ClinVar Annotator: match by term: MRT24 ClinVar PMID:18455129 PMID:23806237 PMID:25626710 PMID:25741868 PMID:28492532 More... NCBI chr16:53,196,195...53,345,241
Ensembl chr16:53,196,195...53,344,781 		JBrowse link
autosomal recessive intellectual developmental disorder 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lins1 lines homolog 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 27 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 27		 OMIM
CTD
ClinVar		 PMID:21937992 PMID:23773660 PMID:25741868 PMID:28492532 PMID:30090841 More... NCBI chr 1:120,267,586...120,295,013
Ensembl chr 1:120,267,693...120,293,607 		JBrowse link
autosomal recessive intellectual developmental disorder 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brme1 break repair meiotic recombinase recruitment factor 1 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 3 ClinVar PMID:24033266 PMID:25066123 PMID:25741868 NCBI chr19:23,990,049...24,011,774
Ensembl chr19:23,990,045...24,011,850 		JBrowse link
G Cc2d1a coiled-coil and C2 domain containing 1A ISO ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 3
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16033914 PMID:16199547 PMID:18414213 PMID:21102627 PMID:24026677 More... NCBI chr19:24,011,897...24,026,937
Ensembl chr19:24,011,938...24,026,936 		JBrowse link
autosomal recessive intellectual developmental disorder 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cradd CASP2 and RIPK1 domain containing adaptor with death domain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY		 OMIM
CTD
ClinVar		 PMID:22279524 PMID:25741868 PMID:27773430 PMID:30914828 NCBI chr 7:29,940,240...29,952,907
Ensembl chr 7:29,798,586...29,952,907 		JBrowse link
autosomal recessive intellectual developmental disorder 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank3 ankyrin 3 ISO ClinVar Annotator: match by term: ANK3-related condition | ClinVar Annotator: match by term: Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:22865819 PMID:23390136 PMID:25741868 PMID:28492532 PMID:29302074 More... NCBI chr20:18,602,267...19,225,831
Ensembl chr20:18,602,786...19,086,300 		JBrowse link
autosomal recessive intellectual developmental disorder 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 38		 OMIM
CTD
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
autosomal recessive intellectual developmental disorder 39 term browser
Symbol Object Name Qualifiers 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 39 | ClinVar Annotator: match by term: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome		 OMIM
CTD
ClinVar		 PMID:21937992 PMID:23956177 PMID:25741868 PMID:31290144 PMID:31737043 More... NCBI chr16:60,980,665...60,988,587
Ensembl chr16:60,979,039...60,988,569 		JBrowse link
autosomal recessive intellectual developmental disorder 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Taf2 TATA-box binding protein associated factor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 40 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH FEEDING DIFFICULTIES, THIN CORPUS CALLOSUM, AND FOOT DEFORMITY		 OMIM
CTD
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: Intellectual developmental disorder, autosomal recessive 40 ClinVar PMID:25741868 NCBI chr 1:52,298,104...52,309,813
Ensembl chr 1:52,298,099...52,305,864 		JBrowse link
autosomal recessive intellectual developmental disorder 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kptn kaptin (actin binding protein) ISO
ISS		 ClinVar Annotator: match by term: Macrocephaly-developmental delay syndrome
OMIM:615637
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 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
G Scamp5 secretory carrier membrane protein 5 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 41 ClinVar PMID:25741868 PMID:31439720 PMID:33390987 NCBI chr 8:57,845,831...57,884,516
Ensembl chr 8:57,846,659...57,872,027 		JBrowse link
autosomal recessive intellectual developmental disorder 43 term browser
Symbol Object Name Qualifiers 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:21498477 PMID:25741868 PMID:28492532 PMID:31231135 PMID:31953988 More... 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 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mettl23 methyltransferase 23, arginine ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 44		 OMIM
CTD
ClinVar		 PMID:24501276 PMID:24626631 PMID:25741868 PMID:28492532 PMID:32067349 More... NCBI chr10:102,047,090...102,053,379
Ensembl chr10:102,047,314...102,051,977 		JBrowse link
autosomal recessive intellectual developmental disorder 45 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxo31 F-box protein 31 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 45		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:32989326 PMID:33675180 NCBI chr19:49,624,813...49,656,052
Ensembl chr19:49,627,686...49,656,010 		JBrowse link
autosomal recessive intellectual developmental disorder 46 term browser
Symbol Object Name Qualifiers 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 DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 46 | ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 46
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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
autosomal recessive intellectual developmental disorder 47 term browser
Symbol Object Name Qualifiers 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:28492532 NCBI chr13:86,454,256...86,771,437
Ensembl chr13:86,453,926...86,771,411 		JBrowse link
autosomal recessive intellectual developmental disorder 48 term browser
Symbol Object Name Qualifiers 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome		 OMIM
CTD
ClinVar		 PMID:25704603 PMID:25741868 PMID:28492532 NCBI chr 2:195,107,434...195,155,697
Ensembl chr 2:195,107,438...195,155,697 		JBrowse link
autosomal recessive intellectual developmental disorder 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsun2 NOP2/Sun RNA methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 5 | ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 5		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:17120046 PMID:17576681 PMID:18414213 PMID:21063731 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:23161826 PMID:23708187 PMID:25741868 PMID:26989088 PMID:27334371 More... NCBI chr20:5,026,366...5,056,659
Ensembl chr20:5,026,364...5,056,672 		JBrowse link
autosomal recessive intellectual developmental disorder 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edc3 enhancer of mRNA decapping 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 50		 OMIM
CTD
ClinVar		 PMID:25701870 PMID:25741868 NCBI chr 8:58,106,147...58,151,685
Ensembl chr 8:58,106,175...58,151,671 		JBrowse link
autosomal recessive intellectual developmental disorder 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnmt histamine N-methyltransferase susceptibility ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 51
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:25741868 PMID:26206890 PMID:28492532 NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012 		JBrowse link
autosomal recessive intellectual developmental disorder 52 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lman2l lectin, mannose-binding 2-like ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 52		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:26566883 NCBI chr 9:38,661,709...38,685,244
Ensembl chr 9:38,661,712...38,685,337 		JBrowse link
autosomal recessive intellectual developmental disorder 54 term browser
Symbol Object Name Qualifiers 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:27106596 PMID:28492532 NCBI chr 2:111,184,352...111,587,993
Ensembl chr 2:111,184,387...111,580,750 		JBrowse link
autosomal recessive intellectual developmental disorder 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zc3h14 zinc finger CCCH type containing 14 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 56		 OMIM
CTD
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
autosomal recessive intellectual developmental disorder 57 term browser
Symbol Object Name Qualifiers 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 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 57
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:24033266 PMID:25741868 PMID:27616480 PMID:31852446 PMID:33335874 NCBI chr 1:65,525,206...65,539,538
Ensembl chr 1:65,525,213...65,539,538 		JBrowse link
G Tsen34 tRNA splicing endonuclease subunit 34 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 57 ClinVar PMID:25741868 NCBI chr 1:65,517,324...65,525,194
Ensembl chr 1:65,517,330...65,524,412 		JBrowse link
autosomal recessive intellectual developmental disorder 58 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp2 elongator acetyltransferase complex subunit 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ELP2-Related Disorders | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 58		 OMIM
CTD
ClinVar		 PMID:21937992 PMID:25356970 PMID:25741868 PMID:25847581 PMID:28492532 More... NCBI chr18:15,885,940...15,921,564
Ensembl chr18:15,885,934...15,921,599 		JBrowse link
G Pgap1 post-GPI attachment to proteins inositol deacylase 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 58 ClinVar PMID:28492532 NCBI chr 9:55,975,574...56,044,325
Ensembl chr 9:55,975,667...56,044,464 		JBrowse link
autosomal recessive intellectual developmental disorder 59 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Impa1 inositol monophosphatase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 59		 OMIM
CTD
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
autosomal recessive intellectual developmental disorder 6 term browser
Symbol Object Name Qualifiers 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25039795 PMID:25741868 PMID:28492532 NCBI chr20:52,135,325...52,833,061
Ensembl chr20:52,133,851...52,838,375 		JBrowse link
autosomal recessive intellectual developmental disorder 60 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Taf13 TATA-box binding protein associated factor 13 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 60 | ClinVar Annotator: match by term: Mental retardation, autosomal recessive 60		 OMIM
CTD
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
autosomal recessive intellectual developmental disorder 61 term browser
Symbol Object Name Qualifiers 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 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 63 term browser
Symbol Object Name Qualifiers 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
autosomal recessive intellectual developmental disorder 64 term browser
Symbol Object Name Qualifiers 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
autosomal recessive intellectual developmental disorder 65 term browser
Symbol Object Name Qualifiers 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
autosomal recessive intellectual developmental disorder 66 term browser
Symbol Object Name Qualifiers 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 Ferry3 FERRY endosomal RAB5 effector complex subunit 3 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
autosomal recessive intellectual developmental disorder 67 term browser
Symbol Object Name Qualifiers 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 PMID:33736665 NCBI chr 1:162,934,220...162,943,204
Ensembl chr 1:162,934,212...162,943,204 		JBrowse link
autosomal recessive intellectual developmental disorder 68 term browser
Symbol Object Name Qualifiers 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
autosomal recessive intellectual developmental disorder 69 term browser
Symbol Object Name Qualifiers 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:7586637 PMID:25741868 PMID:29893856 PMID:35104841 NCBI chr11:44,598,694...44,652,559
Ensembl chr11:44,616,289...44,651,050 		JBrowse link
autosomal recessive intellectual developmental disorder 7 term browser
Symbol Object Name Qualifiers 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, AUTOSOMAL RECESSIVE 7 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 22
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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
autosomal recessive intellectual developmental disorder 70 term browser
Symbol Object Name Qualifiers 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
autosomal recessive intellectual developmental disorder 71 term browser
Symbol Object Name Qualifiers 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:28492532 PMID:31079898 PMID:33544954 NCBI chr 6:378,779...449,382
Ensembl chr 6:378,100...452,165 		JBrowse link
autosomal recessive intellectual developmental disorder 72 term browser
Symbol Object Name Qualifiers 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 PMID:36305450 NCBI chr 3:54,625,790...54,638,066
Ensembl chr 3:54,625,793...54,638,039 		JBrowse link
autosomal recessive intellectual developmental disorder 73 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naa20 N(alpha)-acetyltransferase 20, NatB catalytic subunit ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 73 OMIM
ClinVar		 PMID:25741868 NCBI chr 3:133,322,036...133,336,843
Ensembl chr 3:133,322,064...133,337,009 		JBrowse link
autosomal recessive intellectual developmental disorder 74 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 74 ClinVar
OMIM		 PMID:25741868 PMID:25753423 PMID:28492532 PMID:33161245 NCBI chr 7:9,392,336...9,414,364
Ensembl chr 7:9,392,336...9,414,310 		JBrowse link
autosomal recessive intellectual developmental disorder 75 term browser
Symbol Object Name Qualifiers 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 | ClinVar Annotator: match by term: PIDD1-associated neurodevelopmental disorder OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28397838 PMID:28492532 PMID:29302074 More... NCBI chr 1:196,536,815...196,542,808
Ensembl chr 1:196,536,834...196,542,699 		JBrowse link
autosomal recessive intellectual developmental disorder 76 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 76 OMIM
ClinVar		 PMID:35675825 NCBI chr10:41,210,713...41,527,283
Ensembl chr10:41,210,713...41,527,283 		JBrowse link
autosomal recessive intellectual developmental disorder 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 77 OMIM
ClinVar		 PMID:34196201 PMID:35359234 NCBI chr 5:164,534,773...164,567,260
Ensembl chr 5:164,534,782...164,567,248 		JBrowse link
Autosomal Recessive Intellectual Developmental Disorder 78 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr11 WD repeat domain 11 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 78 OMIM
ClinVar		 PMID:25741868 PMID:34413497 NCBI chr 1:184,165,260...184,210,834
Ensembl chr 1:184,165,571...184,210,846 		JBrowse link
Autosomal Recessive Intellectual Developmental Disorder 79 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpr translocated promoter region, nuclear basket protein ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 79 OMIM
ClinVar		 PMID:34494102 NCBI chr13:62,424,312...62,487,502
Ensembl chr13:62,424,312...62,487,496 		JBrowse link
Autosomal Recessive Intellectual Developmental Disorder 80 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casp2 caspase 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly OMIM
ClinVar		 PMID:25741868 PMID:37880421 NCBI chr 4:71,149,632...71,167,388
Ensembl chr 4:71,149,669...71,167,379 		JBrowse link
Autosomal Recessive Intellectual Developmental Disorder 81 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ascc3 activating signal cointegrator 1 complex subunit 3 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 81 OMIM
ClinVar		 PMID:21937992 PMID:25741868 PMID:35047834 NCBI chr20:53,510,137...53,795,446
Ensembl chr20:53,510,184...53,790,165 		JBrowse link
autosomal recessive intellectual developmental disorder 82 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsun6 NOP2/Sun RNA methyltransferase 6 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 82 OMIM
ClinVar		 PMID:37226891 NCBI chr17:77,912,374...77,955,694
Ensembl chr17:77,912,377...77,950,006 		JBrowse link
early onset progressive encephalopathy with brain atrophy and thin corpus callosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbcd tubulin folding cofactor D ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | ClinVar Annotator: match by term: TBCD-related condition		 CTD
ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:27666370 More... NCBI chr10:106,717,340...106,874,126
Ensembl chr10:106,717,367...106,874,122 		JBrowse link
G Znf750 zinc finger protein 750 ISO ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum ClinVar PMID:25741868 NCBI chr10:106,772,162...106,781,186
Ensembl chr10:106,772,669...106,781,200 		JBrowse link
glycosylphosphatidylinositol biosynthesis defect 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C13h1orf105 similar to human chromosome 1 open reading frame 105 ISO ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 16 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 62 ClinVar PMID:25741868 PMID:25741900 PMID:26036949 PMID:27694521 PMID:28492532 NCBI chr13:74,313,320...74,356,322
Ensembl chr13:74,313,322...74,356,322 		JBrowse link
G Pigc phosphatidylinositol glycan anchor biosynthesis, class C ISO ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 16 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 62 OMIM
ClinVar		 PMID:25741868 PMID:25741900 PMID:26036949 PMID:27694521 PMID:28492532 NCBI chr13:74,343,619...74,346,148
Ensembl chr13:74,296,854...74,346,211 		JBrowse link
hyperphosphatasia with impaired intellectual development syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgap3 post-GPI attachment to proteins phospholipase 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperphosphatasia-intellectual disability syndrome		 CTD
ClinVar		 PMID:25741868 PMID:27618451 PMID:30217754 PMID:30345601 NCBI chr10:83,387,113...83,399,357
Ensembl chr10:83,387,113...83,398,628 		JBrowse link
G Pigg phosphatidylinositol glycan anchor biosynthesis, class G ISO ClinVar Annotator: match by term: MABRY SYNDROME ClinVar PMID:25741868 PMID:26996948 PMID:28492532 NCBI chr14:1,404,911...1,433,199
Ensembl chr14:1,406,798...1,433,187 		JBrowse link
G Pigl phosphatidylinositol glycan anchor biosynthesis, class L ISO ClinVar Annotator: match by term: MABRY SYNDROME ClinVar NCBI chr10:47,142,160...47,199,892
Ensembl chr10:47,141,780...47,200,145 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperphosphatasia-intellectual disability syndrome		 CTD
ClinVar		 PMID:22683086 PMID:24033266 PMID:24417746 PMID:25741868 PMID:28492532 More... NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146 		JBrowse link
G Pigv phosphatidylinositol glycan anchor biosynthesis, class V ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperphosphatasia-intellectual disability syndrome | ClinVar Annotator: match by term: MABRY SYNDROME		 CTD
ClinVar		 PMID:1724113 PMID:20578257 PMID:20802478 PMID:21739589 PMID:22228761 More... NCBI chr 5:145,889,642...145,901,533
Ensembl chr 5:145,889,646...145,901,533 		JBrowse link
G Pigw phosphatidylinositol glycan anchor biosynthesis, class W ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:69,746,996...69,782,656
Ensembl chr10:69,748,789...69,790,475 		JBrowse link
G Pigy phosphatidylinositol glycan anchor biosynthesis, class Y ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:20,689,621...20,691,863
Ensembl chr 8:20,689,502...20,692,585 		JBrowse link
hyperphosphatasia with impaired intellectual development syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigb phosphatidylinositol glycan anchor biosynthesis, class B ISO ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 ClinVar PMID:25326635 PMID:25741868 PMID:31256876 NCBI chr 8:73,751,756...73,775,679
Ensembl chr 8:73,751,798...73,775,679 		JBrowse link
G Pigg phosphatidylinositol glycan anchor biosynthesis, class G ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2 ClinVar PMID:25741868 PMID:26996948 PMID:28492532 NCBI chr14:1,404,911...1,433,199
Ensembl chr14:1,406,798...1,433,187 		JBrowse link
G Pigl phosphatidylinositol glycan anchor biosynthesis, class L ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2 ClinVar NCBI chr10:47,142,160...47,199,892
Ensembl chr10:47,141,780...47,200,145 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 ClinVar PMID:25741868 NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146 		JBrowse link
G Pigv phosphatidylinositol glycan anchor biosynthesis, class V ISO DNA:missense mutations:CDS:multiple (human)
ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2 | ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1 | ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 | ClinVar Annotator: match by term: MABRY SYNDROME		 OMIM
ClinVar
RGD		 PMID:1724113 PMID:17351347 PMID:20578257 PMID:20802478 PMID:21739589 More... RGD:243048420 NCBI chr 5:145,889,642...145,901,533
Ensembl chr 5:145,889,646...145,901,533 		JBrowse link
hyperphosphatasia with impaired intellectual development syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,752,509...57,756,079
Ensembl chr 5:57,752,509...57,756,109 		JBrowse link
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,889,649...56,896,959
Ensembl chr 5:56,890,042...56,895,888 		JBrowse link
G Atosb atos homolog B ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,260,839...57,274,524
Ensembl chr 5:57,260,841...57,268,892 		JBrowse link
G Car9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838 		JBrowse link
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918 		JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:58,206,676...58,208,563
Ensembl chr 5:58,206,633...58,208,951 		JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308 		JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686 		JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506 		JBrowse link
G Cd72 Cd72 molecule ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,697,361...57,704,980
Ensembl chr 5:57,697,367...57,704,725 		JBrowse link
G Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,675,537...57,680,133
Ensembl chr 5:57,675,462...57,678,611 		JBrowse link
G Clta clathrin, light chain A ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:58,244,253...58,263,480
Ensembl chr 5:58,245,442...58,263,472 		JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,823,448...56,861,049
Ensembl chr 5:56,823,965...56,841,392 		JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,817,865...57,823,233
Ensembl chr 5:57,817,832...57,824,390 		JBrowse link
G Dctn3 dynactin subunit 3 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,881,085...56,889,041
Ensembl chr 5:56,881,085...56,889,102 		JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925 		JBrowse link
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,176,840...57,186,067
Ensembl chr 5:57,176,845...57,185,490 		JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,800,980...56,802,777
Ensembl chr 5:56,800,980...56,802,777 		JBrowse link
G Fam221b family with sequence similarity 221, member B ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,910,346...57,919,562
Ensembl chr 5:57,910,352...57,919,367 		JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265 		JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072 		JBrowse link
G Glipr2 GLI pathogenesis-related 2 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:58,170,417...58,202,258
Ensembl chr 5:58,170,425...58,202,272 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499 		JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,904,613...57,906,868
Ensembl chr 5:57,904,614...57,907,097 		JBrowse link
G Hrct1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,982,344...57,983,186
Ensembl chr 5:57,982,470...57,982,790 		JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408 		JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,838,935...57,839,985
Ensembl chr 5:57,838,935...57,839,985 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580 		JBrowse link
G Or13c7 olfactory receptor family 13 subfamily C member 7 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:58,081,150...58,082,109
Ensembl chr 5:58,077,726...58,083,852 		JBrowse link
G Or13j1 olfactory receptor family 13 subfamily J member 1 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,961,391...57,962,329
Ensembl chr 5:57,960,219...57,965,853 		JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,143,428...57,171,054
Ensembl chr 5:57,142,632...57,168,497 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 | ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22683086 PMID:24033266 More... NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146 		JBrowse link
G Reck reversion-inducing-cysteine-rich protein with kazal motifs ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:58,102,961...58,169,516
Ensembl chr 5:58,102,981...58,169,502 		JBrowse link
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,834,467...57,843,087
Ensembl chr 5:57,834,629...57,843,086 		JBrowse link
G Rpp25l ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,878,420...56,879,956
Ensembl chr 5:56,876,316...56,880,013 		JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,628,397...57,675,524
Ensembl chr 5:57,629,904...57,675,524 		JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017 		JBrowse link
G Sit1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,740,212...57,741,838
Ensembl chr 5:57,740,218...57,741,838 		JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,901,681...57,903,894
Ensembl chr 5:57,901,682...57,903,894 		JBrowse link
G Spata31f1 SPATA31 subfamily F member 1 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,065,743...57,071,880
Ensembl chr 5:57,065,747...57,071,738 		JBrowse link
G Spata31g1 SPATA31 subfamily G member 1 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,199,980...57,204,069
Ensembl chr 5:57,200,000...57,204,070 		JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,256,227...57,259,824
Ensembl chr 5:57,256,220...57,259,920 		JBrowse link
G Tesk1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,691,922...57,697,698
Ensembl chr 5:57,691,969...57,697,698 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,787,670...57,817,900
Ensembl chr 5:57,787,943...57,817,900 		JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,919,473...57,948,419
Ensembl chr 5:57,919,804...57,946,772 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992 		JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,288,999...57,504,110
Ensembl chr 5:57,289,227...57,502,926 		JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6 ClinVar PMID:22683086 PMID:24417746 PMID:28492532 NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
hyperphosphatasia with impaired intellectual development syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgap2 post-GPI attachment to proteins 2 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 8 | ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 3
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2164379 PMID:21629298 PMID:21643797 PMID:23561846 PMID:23561847 More... NCBI chr 1:156,591,540...156,618,116
Ensembl chr 1:156,591,615...156,618,114 		JBrowse link
hyperphosphatasia with impaired intellectual development syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pgap3 post-GPI attachment to proteins phospholipase 3 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 10 | ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4 OMIM
ClinVar		 PMID:2443911 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22315194 More... NCBI chr10:83,387,113...83,399,357
Ensembl chr10:83,387,113...83,398,628 		JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 4 ClinVar NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894 		JBrowse link
hyperphosphatasia with impaired intellectual development syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aatf apoptosis antagonizing transcription factor ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:69,299,029...69,392,207
Ensembl chr10:69,299,037...69,392,201 		JBrowse link
G Acaca acetyl-CoA carboxylase alpha ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457 		JBrowse link
G C10h17orf78 similar to human chromosome 17 open reading frame 78 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:69,034,887...69,054,100
Ensembl chr10:69,037,708...69,054,113 		JBrowse link
G Ddx52 DExD-box helicase 52 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:68,824,594...68,847,400
Ensembl chr10:68,824,645...68,848,266 		JBrowse link
G Dhrs11 dehydrogenase/reductase 11 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:69,698,214...69,708,294
Ensembl chr10:69,698,214...69,708,295 		JBrowse link
G Dusp14 dual specificity phosphatase 14 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:68,936,483...68,966,347
Ensembl chr10:68,935,330...68,965,329 		JBrowse link
G Ggnbp2 gametogenetin binding protein 2 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:69,711,527...69,743,134
Ensembl chr10:69,711,532...69,743,365 		JBrowse link
G Hnf1b HNF1 homeobox B ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888 		JBrowse link
G Lhx1 LIM homeobox 1 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:69,396,829...69,403,617
Ensembl chr10:69,396,829...69,403,617 		JBrowse link
G Mrm1 mitochondrial rRNA methyltransferase 1 ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:69,690,406...69,697,326
Ensembl chr10:69,690,421...69,696,709 		JBrowse link
G Myo19 myosin XIX ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:24367057 PMID:25741868 PMID:27626616 PMID:28492532 PMID:30679815 More... NCBI chr10:69,753,082...69,782,450
Ensembl chr10:69,753,068...69,782,450 		JBrowse link
G Pigw phosphatidylinositol glycan anchor biosynthesis, class W ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 OMIM
ClinVar		 PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:69,746,996...69,782,656
Ensembl chr10:69,748,789...69,790,475 		JBrowse link
G Synrg synergin, gamma ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:68,848,828...68,931,252
Ensembl chr10:68,849,642...68,931,250 		JBrowse link
G Tada2a transcriptional adaptor 2A ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 ClinVar PMID:9398836 PMID:12148114 PMID:15068978 PMID:20378641 PMID:20633866 More... NCBI chr10:68,966,502...69,014,149
Ensembl chr10:68,966,502...69,014,105 		JBrowse link
hyperphosphatasia with impaired intellectual development syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigy phosphatidylinositol glycan anchor biosynthesis, class Y ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 12 OMIM
ClinVar		 PMID:25741868 PMID:26293662 PMID:28492532 NCBI chr 8:20,689,621...20,691,863
Ensembl chr 8:20,689,502...20,692,585 		JBrowse link
G Pyurf PIGY upstream open reading frame ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 12 ClinVar PMID:25741868 PMID:26293662 PMID:28492532 NCBI chr 4:87,501,859...87,505,494
Ensembl chr 4:87,501,859...87,505,494 		JBrowse link
infantile hypotonia with psychomotor retardation and characteristic facies-3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbck TBC1 domain containing kinase ISO ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | ClinVar Annotator: match by term: Syndromic Infantile Encephalopathy | ClinVar Annotator: match by term: TBCK-related condition | ClinVar Annotator: match by term: TBCK-related disorders
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23977024 PMID:25558065 More... NCBI chr 2:221,175,749...221,348,058
Ensembl chr 2:221,175,785...221,348,126 		JBrowse link
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pus7 pseudouridine synthase 7 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30526862 PMID:30778726 PMID:35144859 NCBI chr 4:11,360,169...11,401,139
Ensembl chr 4:11,360,188...11,401,172 		JBrowse link
Mental Retardation, Autosomal Recessive 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpi glucose-6-phosphate isomerase ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FEATURES, SPASTICITY, AND BRAIN ABNORMALITIES ClinVar PMID:25741868 NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086 		JBrowse link
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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpt2 glutamic--pyruvic transaminase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GPT2-related neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and spastic paraplegia		 OMIM
CTD
ClinVar		 PMID:24901346 PMID:25741868 PMID:25758935 PMID:27601654 PMID:28374019 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5me ATP synthase membrane subunit e ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY ClinVar PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 PMID:34113002 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: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY ClinVar PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 PMID:34113002 NCBI chr14:1,184,677...1,216,392 JBrowse link
G Dgkq diacylglycerol kinase, theta ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY ClinVar PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 PMID:34113002 NCBI chr14:1,059,125...1,073,131
Ensembl chr14:1,059,170...1,073,131 		JBrowse link
G Fgfrl1 fibroblast growth factor receptor-like 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY ClinVar PMID:28492532 PMID:34113002 NCBI chr14:1,009,863...1,022,620
Ensembl chr14:1,009,786...1,021,928 		JBrowse link
G Gak cyclin G associated kinase ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY ClinVar PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 PMID:34113002 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: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY ClinVar PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 PMID:34113002 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: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY ClinVar PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 PMID:34113002 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: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY ClinVar PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 PMID:34113002 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Emm-null phenotype | ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 13 | 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
CTD
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: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY ClinVar PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 PMID:34113002 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: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY ClinVar PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 PMID:34113002 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 chr14:103,841,713...104,016,900
Ensembl chr14:103,842,684...104,008,507 		JBrowse link
G Tmem175 transmembrane protein 175 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY ClinVar PMID:26996948 PMID:28492532 PMID:28581210 PMID:28771251 PMID:34113002 NCBI chr14:1,073,410...1,089,764
Ensembl chr14:1,073,523...1,089,819 		JBrowse link
neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies term browser
Symbol Object Name Qualifiers 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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 cerebellar atrophy and motor dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gemin5 gem (nuclear organelle) associated protein 5 ISO ClinVar Annotator: match by term: GEMIN5-related neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33963192 NCBI chr10:42,295,729...42,342,902
Ensembl chr10:42,297,515...42,342,892 		JBrowse link
neurodevelopmental disorder with language delay and seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tiam1 TIAM Rac1 associated GEF 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with language delay and seizures OMIM
ClinVar		 PMID:25741868 PMID:35240055 NCBI chr11:29,031,347...29,380,153
Ensembl chr11:29,031,348...29,159,901 		JBrowse link
Neurodevelopmental Disorder with Microcephaly and Gray Sclerae term browser
Symbol Object Name Qualifiers 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 8:33,912,692...33,921,760
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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gemin4 gem (nuclear organelle) associated protein 4 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities OMIM
ClinVar		 PMID:25558065 PMID:25741868 PMID:27878435 PMID:30237576 NCBI chr10:61,062,420...61,073,529
Ensembl chr10:61,066,425...61,073,431
Ensembl chr10:61,066,425...61,073,431 		JBrowse link
neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trappc6b trafficking protein particle complex subunit 6B ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | ClinVar Annotator: match by term: TRAPPC6B-related neurodevelopmental disorder OMIM
ClinVar		 PMID:25741868 PMID:25954003 PMID:27618451 PMID:28397838 PMID:28490743 More... NCBI chr 6:76,740,898...76,752,035
Ensembl chr 6:76,740,898...76,752,024 		JBrowse link
neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities OMIM
ClinVar		 PMID:25741868 PMID:37054711 NCBI chr 5:166,479,134...166,497,956
Ensembl chr 5:166,479,155...166,497,651 		JBrowse link
neurodevelopmental disorder with poor growth and behavioral abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp9a ATPase phospholipid transporting 9A (putative) ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and behavioral abnormalities OMIM
ClinVar		 PMID:25741868 PMID:34379057 PMID:34764295 PMID:36604604 NCBI chr 3:157,360,354...157,467,628
Ensembl chr 3:157,360,359...157,467,818 		JBrowse link
neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nrde2 NRDE-2, necessary for RNA interference, domain containing ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss ClinVar PMID:35861243 NCBI chr 6:119,405,103...119,446,861
Ensembl chr 6:119,404,334...119,448,915 		JBrowse link
G Psmc1 proteasome 26S subunit, ATPase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss ClinVar
OMIM		 PMID:35861243 NCBI chr 6:119,392,833...119,405,233
Ensembl chr 6:119,392,855...119,410,123 		JBrowse link
neurodevelopmental disorder with spasticity and poor growth term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ufc1 ubiquitin-fold modifier conjugating enzyme 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity and poor growth OMIM
ClinVar		 PMID:25741868 PMID:27431290 PMID:29868776 NCBI chr13:83,709,329...83,719,762
Ensembl chr13:83,709,330...83,716,076 		JBrowse link
Rafiq syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca2 ATP binding cassette subfamily A member 2 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:8,244,515...8,264,545
Ensembl chr 3:8,244,639...8,264,537 		JBrowse link
G Abo ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423 		JBrowse link
G Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687 		JBrowse link
G Adamtsl2 ADAMTS-like 2 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:10,397,774...10,434,557
Ensembl chr 3:10,404,626...10,434,554 		JBrowse link
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:9,416,837...9,428,567
Ensembl chr 3:9,416,843...9,428,371 		JBrowse link
G Ajm1 apical junction component 1 homolog ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:8,394,942...8,401,323
Ensembl chr 3:8,392,889...8,401,321 		JBrowse link
G Ak8 adenylate kinase 8 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:12,028,895...12,144,468
Ensembl chr 3:12,028,954...12,144,465 		JBrowse link
G Anapc2 anaphase promoting complex subunit 2 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:8,086,434...8,098,182
Ensembl chr 3:8,086,462...8,098,178 		JBrowse link
G Arrdc1 arrestin domain containing 1 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:7,735,002...7,742,195
Ensembl chr 3:7,735,011...7,742,197 		JBrowse link
G Barhl1 BarH-like homeobox 1 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:12,241,327...12,248,649
Ensembl chr 3:12,241,327...12,248,649 		JBrowse link
G Brd3 bromodomain containing 3 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:10,773,163...10,829,675
Ensembl chr 3:10,775,272...10,829,577 		JBrowse link
G C8g complement C8 gamma chain ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:8,320,503...8,322,087
Ensembl chr 3:8,305,920...8,323,495 		JBrowse link
G Cacfd1 calcium channel flower domain containing 1 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:10,335,881...10,352,437
Ensembl chr 3:10,335,881...10,343,406 		JBrowse link
G Cacna1b calcium voltage-gated channel subunit alpha1 B ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:7,380,892...7,546,104
Ensembl chr 3:7,380,922...7,546,091 		JBrowse link
G Camsap1 calmodulin regulated spectrin-associated protein 1 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:8,746,176...8,806,067
Ensembl chr 3:8,746,176...8,806,072 		JBrowse link
G Card9 caspase recruitment domain family, member 9 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237 		JBrowse link
G Ccdc183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:8,428,784...8,438,948
Ensembl chr 3:8,428,787...8,437,194 		JBrowse link
G Cel carboxyl ester lipase ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:11,883,532...11,891,035
Ensembl chr 3:11,883,532...11,891,035 		JBrowse link
G Cfap77 cilia and flagella associated protein 77 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:12,258,453...12,381,319
Ensembl chr 3:12,258,453...12,381,319 		JBrowse link
G Cimip2a ciliary microtubule inner protein 2A ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:8,030,548...8,038,370
Ensembl chr 3:8,033,246...8,037,961 		JBrowse link
G Clic3 chloride intracellular channel 3 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:8,271,416...8,274,023
Ensembl chr 3:8,272,097...8,274,018 		JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:11,208,429...11,356,715
Ensembl chr 3:11,208,512...11,354,588 		JBrowse link
G Cysrt1 cysteine rich tail 1 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:8,054,195...8,057,846
Ensembl chr 3:8,053,482...8,059,721 		JBrowse link
G Dbh dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248 		JBrowse link
G Ddx31 DEAD-box helicase 31 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:12,172,829...12,238,392
Ensembl chr 3:12,172,836...12,238,873 		JBrowse link
G Dipk1b divergent protein kinase domain 1B ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:9,455,914...9,464,169
Ensembl chr 3:9,456,409...9,464,161 		JBrowse link
G Dnlz DNL-type zinc finger ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:9,169,948...9,171,727
Ensembl chr 3:9,169,793...9,180,551 		JBrowse link
G Dph7 diphthamide biosynthesis 7 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:7,770,368...7,778,994
Ensembl chr 3:7,770,379...7,778,982 		JBrowse link
G Dpp7 dipeptidylpeptidase 7 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:8,165,091...8,169,343
Ensembl chr 3:8,165,091...8,169,355 		JBrowse link
G Edf1 endothelial differentiation-related factor 1 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:8,377,058...8,381,363
Ensembl chr 3:8,366,613...8,381,363 		JBrowse link
G Egfl7 EGF-like-domain, multiple 7 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:9,404,622...9,416,879
Ensembl chr 3:9,407,520...9,416,879 		JBrowse link
G Ehmt1 euchromatic histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:7,580,680...7,729,046
Ensembl chr 3:7,580,683...7,729,007 		JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:8,213,575...8,219,094
Ensembl chr 3:8,213,663...8,226,866 		JBrowse link
G Entpd8 ectonucleoside triphosphate diphosphohydrolase 8 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:7,885,277...7,895,517
Ensembl chr 3:7,889,909...7,895,296 		JBrowse link
G Entr1 endosome associated trafficking regulator 1 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:9,200,967...9,207,688
Ensembl chr 3:9,200,967...9,207,688 		JBrowse link
G Fam163b family with sequence similarity 163, member B ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:10,437,383...10,466,458
Ensembl chr 3:10,437,383...10,466,458 		JBrowse link
G Fbxw5 F-box and WD repeat domain containing 5 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:8,322,543...8,327,092
Ensembl chr 3:8,322,543...8,327,092 		JBrowse link
G Fcnb ficolin B ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:11,393,713...11,402,198
Ensembl chr 3:11,393,739...11,402,151 		JBrowse link
G Fut7 fucosyltransferase 7 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:8,237,687...8,242,273
Ensembl chr 3:8,239,384...8,242,260 		JBrowse link
G Gbgt1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:11,826,131...11,829,745 JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942 		JBrowse link
G Glt6d1 glycosyltransferase 6 domain containing 1 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:8,627,793...8,638,537
Ensembl chr 3:8,627,911...8,636,335 		JBrowse link
G Gpsm1 G-protein signaling modulator 1 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:9,140,816...9,167,828
Ensembl chr 3:9,128,636...9,167,827 		JBrowse link
G Grin1 glutamate ionotropic receptor NMDA type subunit 1 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603 		JBrowse link
G Gtf3c4 general transcription factor IIIC subunit 4 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:12,154,803...12,172,795
Ensembl chr 3:12,154,805...12,172,725 		JBrowse link
G Gtf3c5 general transcription factor IIIC subunit 5 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:11,893,867...11,914,187
Ensembl chr 3:11,893,875...11,914,180 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450 		JBrowse link
G Kcnt1 potassium sodium-activated channel subfamily T member 1 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667 		JBrowse link
G Lcn1 lipocalin 1 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:9,532,860...9,537,859
Ensembl chr 3:9,532,915...9,536,577 		JBrowse link
G Lcn10 lipocalin 10 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:8,490,781...8,494,334
Ensembl chr 3:8,490,781...8,494,333 		JBrowse link
G Lcn12 lipocalin 12 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:8,312,412...8,315,392
Ensembl chr 3:8,305,920...8,323,495 		JBrowse link
G Lcn6 lipocalin 6 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:8,484,013...8,489,577
Ensembl chr 3:8,484,013...8,489,574 		JBrowse link
G Lcn8 lipocalin 8 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:8,467,934...8,473,691
Ensembl chr 3:8,467,934...8,470,918 		JBrowse link
G Lcn9 lipocalin 9 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:8,644,427...8,646,782
Ensembl chr 3:8,636,548...8,652,200 		JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480 		JBrowse link
G Lrrc26 leucine rich repeat containing 26 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:8,102,361...8,103,687
Ensembl chr 3:8,102,361...8,103,687 		JBrowse link
G Mamdc4 MAM domain containing 4 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:8,382,387...8,391,003
Ensembl chr 3:8,382,387...8,391,003 		JBrowse link
G Man1b1 mannosidase, alpha, class 1B, member 1 ISO ClinVar Annotator: match by term: Rafiq syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:21763484 PMID:21937992 More... NCBI chr 3:8,143,877...8,165,007
Ensembl chr 3:8,143,381...8,165,006 		JBrowse link
G Med22 mediator complex subunit 22 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:10,233,754...10,238,836
Ensembl chr 3:10,233,754...10,238,836 		JBrowse link
G Mir126a microRNA 126a ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:9,415,063...9,415,180
Ensembl chr 3:9,415,063...9,415,180 		JBrowse link
G Mrpl41 mitochondrial ribosomal protein L41 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:7,780,658...7,781,576
Ensembl chr 3:7,779,143...7,782,818 		JBrowse link
G Mrps2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:11,803,044...11,806,341
Ensembl chr 3:11,801,310...11,806,313 		JBrowse link
G Mymk myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:10,388,363...10,397,294
Ensembl chr 3:10,388,361...10,397,343 		JBrowse link
G Nacc2 NACC family member 2 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:8,879,952...8,946,660
Ensembl chr 3:8,883,065...8,946,660 		JBrowse link
G Ndor1 NADPH dependent diflavin oxidoreductase 1 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:8,062,629...8,070,873
Ensembl chr 3:8,062,630...8,070,860 		JBrowse link
G Nelfb negative elongation factor complex member B ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:8,010,883...8,027,403
Ensembl chr 3:8,010,888...8,027,403 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
G Noxa1 NADPH oxidase activator 1 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:7,895,488...7,907,011
Ensembl chr 3:7,895,488...7,905,967 		JBrowse link
G Npdc1 neural proliferation, differentiation and control, 1 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:8,220,446...8,226,446
Ensembl chr 3:8,213,663...8,226,866 		JBrowse link
G Nrarp Notch-regulated ankyrin repeat protein ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:7,992,582...7,995,136
Ensembl chr 3:7,992,552...7,995,133 		JBrowse link
G Nsmf NMDA receptor synaptonuclear signaling and neuronal migration factor ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:7,861,846...7,870,615
Ensembl chr 3:7,861,872...7,870,614 		JBrowse link
G Obp2a odorant binding protein 2A ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:8,505,963...8,509,269
Ensembl chr 3:8,505,990...8,509,269 		JBrowse link
G Obp2b odorant binding protein 2B ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:8,582,074...8,585,258
Ensembl chr 3:8,582,074...8,585,258 		JBrowse link
G Olfm1 olfactomedin 1 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:11,520,522...11,558,240
Ensembl chr 3:11,520,729...11,558,239 		JBrowse link
G Paep progestagen associated endometrial protein ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:8,531,136...8,534,430
Ensembl chr 3:8,531,138...8,534,430 		JBrowse link
G Paxx PAXX, non-homologous end joining factor ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:8,274,762...8,276,322
Ensembl chr 3:8,274,762...8,276,521 		JBrowse link
G Phpt1 phosphohistidine phosphatase 1 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:8,392,926...8,394,325 JBrowse link
G Pierce1 piercer of microtubule wall 1 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:11,797,031...11,801,568
Ensembl chr 3:11,797,031...11,801,568 		JBrowse link
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844 		JBrowse link
G Pnpla7 patatin-like phospholipase domain containing 7 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:7,782,572...7,861,504
Ensembl chr 3:7,782,572...7,861,497 		JBrowse link
G Ppp1r26 protein phosphatase 1, regulatory subunit 26 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:11,781,504...11,790,076
Ensembl chr 3:11,781,295...11,790,073 		JBrowse link
G Ptgds prostaglandin D2 synthase ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833 		JBrowse link
G Qsox2 quiescin sulfhydryl oxidase 2 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:9,034,994...9,064,649
Ensembl chr 3:9,034,994...9,064,664 		JBrowse link
G Rabl6 RAB, member RAS oncogene family-like 6 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:8,402,666...8,428,588
Ensembl chr 3:8,402,672...8,428,611 		JBrowse link
G Ralgds ral guanine nucleotide dissociation stimulator ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:11,839,686...11,880,059
Ensembl chr 3:11,839,416...11,880,059 		JBrowse link
G Rexo4 REX4 homolog, 3'-5' exonuclease ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:10,280,654...10,291,003
Ensembl chr 3:10,280,654...10,290,996 		JBrowse link
G Rnf208 ring finger protein 208 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:8,057,808...8,059,721
Ensembl chr 3:8,043,685...8,059,844 		JBrowse link
G Rnf224 ring finger protein 224 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:8,050,088...8,052,416
Ensembl chr 3:8,051,475...8,051,945 		JBrowse link
G Rnu6atac RNA, U6atac small nuclear ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 2:211,550,817...211,550,946
Ensembl chr 2:211,550,817...211,550,946 		JBrowse link
G Rpl7a ribosomal protein L7A ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:10,239,026...10,241,703
Ensembl chr 3:10,239,001...10,241,716 		JBrowse link
G Rxra retinoid X receptor alpha ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:10,989,832...11,076,366
Ensembl chr 3:10,989,832...11,073,712 		JBrowse link
G Sapcd2 suppressor APC domain containing 2 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:8,186,089...8,195,119
Ensembl chr 3:8,187,266...8,192,546 		JBrowse link
G Sardh sarcosine dehydrogenase ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:10,510,553...10,575,342
Ensembl chr 3:10,510,553...10,573,874 		JBrowse link
G Sec16a SEC16 homolog A, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:9,229,687...9,264,837
Ensembl chr 3:9,229,687...9,264,273 		JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803 		JBrowse link
G Slc2a6 solute carrier family 2 member 6 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:10,348,395...10,355,208
Ensembl chr 3:10,348,395...10,355,208 		JBrowse link
G Slc34a3 solute carrier family 34 member 3 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:8,044,294...8,050,034
Ensembl chr 3:8,044,296...8,049,970 		JBrowse link
G Snapc4 small nuclear RNA activating complex, polypeptide 4 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:9,182,061...9,200,819
Ensembl chr 3:9,182,067...9,199,518 		JBrowse link
G Sohlh1 spermatogenesis and oogenesis specific basic helix-loop-helix 1 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:8,662,995...8,667,521
Ensembl chr 3:8,663,318...8,667,388 		JBrowse link
G Spaca9 sperm acrosome associated 9 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:12,019,376...12,028,801
Ensembl chr 3:12,019,363...12,029,119 		JBrowse link
G Ssna1 SS nuclear autoantigen 1 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:8,084,949...8,086,417
Ensembl chr 3:8,084,974...8,086,356 		JBrowse link
G Stkld1 serine/threonine kinase-like domain containing 1 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:10,261,583...10,280,850
Ensembl chr 3:10,261,828...10,280,566 		JBrowse link
G Stpg3 sperm-tail PG-rich repeat containing 3 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:8,028,122...8,030,546
Ensembl chr 3:8,028,131...8,034,601 		JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:10,241,793...10,244,686
Ensembl chr 3:10,241,837...10,263,315 		JBrowse link
G Surf2 surfeit 2 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:10,244,654...10,248,502
Ensembl chr 3:10,244,654...10,250,077 		JBrowse link
G Surf4 surfeit 4 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:10,248,360...10,261,537
Ensembl chr 3:10,241,837...10,263,315 		JBrowse link
G Surf6 surfeit 6 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:10,221,450...10,232,306
Ensembl chr 3:10,221,452...10,232,251 		JBrowse link
G Tmem141 transmembrane protein 141 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:8,439,533...8,441,491
Ensembl chr 3:8,439,533...8,441,491 		JBrowse link
G Tmem203 transmembrane protein 203 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:8,070,904...8,071,732
Ensembl chr 3:8,070,914...8,071,867 		JBrowse link
G Tmem210 transmembrane protein 210 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:8,100,595...8,101,645
Ensembl chr 3:8,100,590...8,101,643 		JBrowse link
G Tmem250 transmembrane protein 250 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:8,962,657...8,966,349
Ensembl chr 3:8,962,657...8,966,349 		JBrowse link
G Tor4a torsin family 4, member A ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:8,004,292...8,007,979
Ensembl chr 3:8,002,023...8,008,042 		JBrowse link
G Tprn taperin ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:8,076,164...8,083,642
Ensembl chr 3:8,075,137...8,083,642 		JBrowse link
G Traf2 Tnf receptor-associated factor 2 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:8,341,950...8,366,609
Ensembl chr 3:8,341,951...8,366,538 		JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674 		JBrowse link
G Ttf1 transcription termination factor 1 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:12,384,626...12,409,257
Ensembl chr 3:12,384,655...12,409,257 		JBrowse link
G Tubb4b tubulin, beta 4B class IVb ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:8,037,838...8,040,294
Ensembl chr 3:8,037,799...8,040,296 		JBrowse link
G Uap1l1 UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:8,172,335...8,180,505
Ensembl chr 3:8,173,216...8,180,443 		JBrowse link
G Ubac1 UBA domain containing 1 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:8,825,444...8,848,055
Ensembl chr 3:8,825,447...8,848,028 		JBrowse link
G Vav2 vav guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:10,584,688...10,754,128
Ensembl chr 3:10,584,688...10,754,052 		JBrowse link
G Wdr5 WD repeat domain 5 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:28492532 NCBI chr 3:10,836,964...10,856,682
Ensembl chr 3:10,837,025...10,856,671 		JBrowse link
G Zmynd19 zinc finger, MYND-type containing 19 ISO ClinVar Annotator: match by term: Rafiq syndrome ClinVar PMID:24566669 PMID:28492532 PMID:30982612 NCBI chr 3:7,758,133...7,769,722
Ensembl chr 3:7,758,133...7,767,514 		JBrowse link
Sotos syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anapc2 anaphase promoting complex subunit 2 ISO RGD PMID:25753423 RGD:11055469 NCBI chr 3:8,086,434...8,098,182
Ensembl chr 3:8,086,462...8,098,178 		JBrowse link
G Apc2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: APC2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 7:9,392,336...9,414,364
Ensembl chr 7:9,392,336...9,414,310 		JBrowse link
spastic tetraplegia, thin corpus callosum, and progressive microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc1a4 solute carrier family 1 member 4 ISO
ISS		 OMIM:616657
ClinVar Annotator: match by term: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly		 OMIM
MouseDO
ClinVar		 PMID:2837306 PMID:25741868 PMID:25930971 PMID:26041762 PMID:26138499 More... NCBI chr14:94,530,801...94,560,190
Ensembl chr14:94,529,084...94,560,418 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      Neurodevelopmental Disorders 6845
        intellectual disability 4298
          autosomal recessive intellectual developmental disorder 293
            Autosomal Recessive Intellectual Developmental Disorder 78 1
            Autosomal Recessive Intellectual Developmental Disorder 79 1
            Autosomal Recessive Intellectual Developmental Disorder 80 1
            Autosomal Recessive Intellectual Developmental Disorder 81 1
            Intellectual Developmental Disorder, Autosomal Recessive 19 0
            Mental Retardation, Autosomal Recessive 42 2
            Mental Retardation, Autosomal Recessive 49 1
            Mental Retardation, Autosomal Recessive 53 14
            Neurodevelopmental Disorder with Microcephaly and Gray Sclerae 2
            Rafiq syndrome 122
            Sotos syndrome 3 2
            autosomal recessive intellectual developmental disorder 1 1
            autosomal recessive intellectual developmental disorder 10/20 0
            autosomal recessive intellectual developmental disorder 11 0
            autosomal recessive intellectual developmental disorder 12 1
            autosomal recessive intellectual developmental disorder 13 2
            autosomal recessive intellectual developmental disorder 14 1
            autosomal recessive intellectual developmental disorder 16 0
            autosomal recessive intellectual developmental disorder 18 2
            autosomal recessive intellectual developmental disorder 2 2
            autosomal recessive intellectual developmental disorder 23 0
            autosomal recessive intellectual developmental disorder 24 1
            autosomal recessive intellectual developmental disorder 25 0
            autosomal recessive intellectual developmental disorder 27 1
            autosomal recessive intellectual developmental disorder 28 0
            autosomal recessive intellectual developmental disorder 29 0
            autosomal recessive intellectual developmental disorder 3 2
            autosomal recessive intellectual developmental disorder 30 0
            autosomal recessive intellectual developmental disorder 31 0
            autosomal recessive intellectual developmental disorder 33 0
            autosomal recessive intellectual developmental disorder 34 1
            autosomal recessive intellectual developmental disorder 35 0
            autosomal recessive intellectual developmental disorder 37 1
            autosomal recessive intellectual developmental disorder 38 1
            autosomal recessive intellectual developmental disorder 39 2
            autosomal recessive intellectual developmental disorder 4 0
            autosomal recessive intellectual developmental disorder 40 2
            autosomal recessive intellectual developmental disorder 41 3
            autosomal recessive intellectual developmental disorder 43 1
            autosomal recessive intellectual developmental disorder 44 1
            autosomal recessive intellectual developmental disorder 45 1
            autosomal recessive intellectual developmental disorder 46 1
            autosomal recessive intellectual developmental disorder 47 1
            autosomal recessive intellectual developmental disorder 48 2
            autosomal recessive intellectual developmental disorder 5 2
            autosomal recessive intellectual developmental disorder 50 1
            autosomal recessive intellectual developmental disorder 51 1
            autosomal recessive intellectual developmental disorder 52 1
            autosomal recessive intellectual developmental disorder 54 1
            autosomal recessive intellectual developmental disorder 56 1
            autosomal recessive intellectual developmental disorder 57 2
            autosomal recessive intellectual developmental disorder 58 2
            autosomal recessive intellectual developmental disorder 59 1
            autosomal recessive intellectual developmental disorder 6 1
            autosomal recessive intellectual developmental disorder 60 1
            autosomal recessive intellectual developmental disorder 61 1
            autosomal recessive intellectual developmental disorder 63 1
            autosomal recessive intellectual developmental disorder 64 1
            autosomal recessive intellectual developmental disorder 65 1
            autosomal recessive intellectual developmental disorder 66 2
            autosomal recessive intellectual developmental disorder 67 1
            autosomal recessive intellectual developmental disorder 68 1
            autosomal recessive intellectual developmental disorder 69 1
            autosomal recessive intellectual developmental disorder 7 1
            autosomal recessive intellectual developmental disorder 70 1
            autosomal recessive intellectual developmental disorder 71 1
            autosomal recessive intellectual developmental disorder 72 1
            autosomal recessive intellectual developmental disorder 73 1
            autosomal recessive intellectual developmental disorder 74 1
            autosomal recessive intellectual developmental disorder 75 1
            autosomal recessive intellectual developmental disorder 76 1
            autosomal recessive intellectual developmental disorder 77 1
            autosomal recessive intellectual developmental disorder 82 1
            autosomal recessive intellectual developmental disorder 9/26 0
            early onset progressive encephalopathy with brain atrophy and thin corpus callosum 2
            glycosylphosphatidylinositol biosynthesis defect 16 2
            hyperphosphatasia with impaired intellectual development syndrome + 72
            infantile hypotonia with psychomotor retardation and characteristic facies-3 1
            intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 1
            neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies 2
            neurodevelopmental disorder with cerebellar atrophy and motor dysfunction 1
            neurodevelopmental disorder with language delay and seizures 1
            neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities 1
            neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy 1
            neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities 1
            neurodevelopmental disorder with poor growth and behavioral abnormalities 1
            neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss 2
            neurodevelopmental disorder with spasticity and poor growth 1
            spastic tetraplegia, thin corpus callosum, and progressive microcephaly 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        central nervous system disease 12429
          brain disease 11666
            disease of mental health 8318
              developmental disorder of mental health 5551
                specific developmental disorder 4516
                  intellectual disability 4298
                    autosomal recessive intellectual developmental disorder 293
                      Autosomal Recessive Intellectual Developmental Disorder 78 1
                      Autosomal Recessive Intellectual Developmental Disorder 79 1
                      Autosomal Recessive Intellectual Developmental Disorder 80 1
                      Autosomal Recessive Intellectual Developmental Disorder 81 1
                      Intellectual Developmental Disorder, Autosomal Recessive 19 0
                      Mental Retardation, Autosomal Recessive 42 2
                      Mental Retardation, Autosomal Recessive 49 1
                      Mental Retardation, Autosomal Recessive 53 14
                      Neurodevelopmental Disorder with Microcephaly and Gray Sclerae 2
                      Rafiq syndrome 122
                      Sotos syndrome 3 2
                      autosomal recessive intellectual developmental disorder 1 1
                      autosomal recessive intellectual developmental disorder 10/20 0
                      autosomal recessive intellectual developmental disorder 11 0
                      autosomal recessive intellectual developmental disorder 12 1
                      autosomal recessive intellectual developmental disorder 13 2
                      autosomal recessive intellectual developmental disorder 14 1
                      autosomal recessive intellectual developmental disorder 16 0
                      autosomal recessive intellectual developmental disorder 18 2
                      autosomal recessive intellectual developmental disorder 2 2
                      autosomal recessive intellectual developmental disorder 23 0
                      autosomal recessive intellectual developmental disorder 24 1
                      autosomal recessive intellectual developmental disorder 25 0
                      autosomal recessive intellectual developmental disorder 27 1
                      autosomal recessive intellectual developmental disorder 28 0
                      autosomal recessive intellectual developmental disorder 29 0
                      autosomal recessive intellectual developmental disorder 3 2
                      autosomal recessive intellectual developmental disorder 30 0
                      autosomal recessive intellectual developmental disorder 31 0
                      autosomal recessive intellectual developmental disorder 33 0
                      autosomal recessive intellectual developmental disorder 34 1
                      autosomal recessive intellectual developmental disorder 35 0
                      autosomal recessive intellectual developmental disorder 37 1
                      autosomal recessive intellectual developmental disorder 38 1
                      autosomal recessive intellectual developmental disorder 39 2
                      autosomal recessive intellectual developmental disorder 4 0
                      autosomal recessive intellectual developmental disorder 40 2
                      autosomal recessive intellectual developmental disorder 41 3
                      autosomal recessive intellectual developmental disorder 43 1
                      autosomal recessive intellectual developmental disorder 44 1
                      autosomal recessive intellectual developmental disorder 45 1
                      autosomal recessive intellectual developmental disorder 46 1
                      autosomal recessive intellectual developmental disorder 47 1
                      autosomal recessive intellectual developmental disorder 48 2
                      autosomal recessive intellectual developmental disorder 5 2
                      autosomal recessive intellectual developmental disorder 50 1
                      autosomal recessive intellectual developmental disorder 51 1
                      autosomal recessive intellectual developmental disorder 52 1
                      autosomal recessive intellectual developmental disorder 54 1
                      autosomal recessive intellectual developmental disorder 56 1
                      autosomal recessive intellectual developmental disorder 57 2
                      autosomal recessive intellectual developmental disorder 58 2
                      autosomal recessive intellectual developmental disorder 59 1
                      autosomal recessive intellectual developmental disorder 6 1
                      autosomal recessive intellectual developmental disorder 60 1
                      autosomal recessive intellectual developmental disorder 61 1
                      autosomal recessive intellectual developmental disorder 63 1
                      autosomal recessive intellectual developmental disorder 64 1
                      autosomal recessive intellectual developmental disorder 65 1
                      autosomal recessive intellectual developmental disorder 66 2
                      autosomal recessive intellectual developmental disorder 67 1
                      autosomal recessive intellectual developmental disorder 68 1
                      autosomal recessive intellectual developmental disorder 69 1
                      autosomal recessive intellectual developmental disorder 7 1
                      autosomal recessive intellectual developmental disorder 70 1
                      autosomal recessive intellectual developmental disorder 71 1
                      autosomal recessive intellectual developmental disorder 72 1
                      autosomal recessive intellectual developmental disorder 73 1
                      autosomal recessive intellectual developmental disorder 74 1
                      autosomal recessive intellectual developmental disorder 75 1
                      autosomal recessive intellectual developmental disorder 76 1
                      autosomal recessive intellectual developmental disorder 77 1
                      autosomal recessive intellectual developmental disorder 82 1
                      autosomal recessive intellectual developmental disorder 9/26 0
                      early onset progressive encephalopathy with brain atrophy and thin corpus callosum 2
                      glycosylphosphatidylinositol biosynthesis defect 16 2
                      hyperphosphatasia with impaired intellectual development syndrome + 72
                      infantile hypotonia with psychomotor retardation and characteristic facies-3 1
                      intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 1
                      neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies 2
                      neurodevelopmental disorder with cerebellar atrophy and motor dysfunction 1
                      neurodevelopmental disorder with language delay and seizures 1
                      neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities 1
                      neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy 1
                      neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities 1
                      neurodevelopmental disorder with poor growth and behavioral abnormalities 1
                      neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss 2
                      neurodevelopmental disorder with spasticity and poor growth 1
                      spastic tetraplegia, thin corpus callosum, and progressive microcephaly 1
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