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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:Agenesis of Corpus Callosum
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Accession:DOID:9001999 term browser browse the term
Definition:Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.
Synonyms:exact_synonym: Absence of Corpus Callosum;   Corpus Callosum Absence;   Corpus Callosum Absences;   Corpus Callosum Ageneses;   Corpus Callosum Agenesis;   Corpus Callosum Dysgeneses;   Corpus Callosum Dysgenesis;   Corpus Callosum Hypogeneses;   Corpus Callosum Hypogenesis;   Corpus Callosum Malformation
 primary_id: MESH:D061085;   RDO:0009963
For additional species annotation, visit the Alliance of Genome Resources.


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Agenesis of Corpus Callosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adnp activity-dependent neuroprotector homeobox ISO ClinVar Annotator: match by term: Corpus callosum agenesis ClinVar PMID:11013255, PMID:22495309, PMID:23160955, PMID:24531329, PMID:25057125, PMID:25169753, PMID:25741868, PMID:26637798, PMID:26845707, PMID:27031564, PMID:28191889, PMID:28221363 NCBI chr 3:164,937,188...164,964,819
Ensembl chr 3:164,937,198...164,964,702
JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Absence of corpus callosum
ClinVar Annotator: match by term: Corpus callosum, agenesis of
ClinVar PMID:25741868, PMID:30311386 NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
JBrowse link
G Armc9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Corpus callosum agenesis ClinVar PMID:25741868, PMID:28492532 NCBI chr 9:93,172,718...93,299,119
Ensembl chr 9:93,172,673...93,296,750
JBrowse link
G Atp6v1b2 ATPase H+ transporting V1 subunit B2 ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:30311386 NCBI chr16:22,326,537...22,350,143
Ensembl chr16:22,326,529...22,350,155
JBrowse link
G Auts2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: Corpus callosum agenesis ClinVar NCBI chr12:27,155,362...28,252,752
Ensembl chr12:28,212,333...28,251,816
JBrowse link
G B3glct beta 3-glucosyltransferase ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:16909395, PMID:18199743, PMID:18798333, PMID:19796186, PMID:20301637, PMID:23161355, PMID:23213277, PMID:23889335, PMID:25741868, PMID:26684045, PMID:28492532, PMID:30311386 NCBI chr12:6,403,118...6,476,010
Ensembl chr12:6,403,940...6,473,321
JBrowse link
G Bcl11a BAF chromatin remodeling complex subunit BCL11A ISO ClinVar Annotator: match by term: Agenesis of corpus callosum ClinVar NCBI chr14:108,826,717...108,921,197
Ensembl chr14:108,826,831...108,921,669
JBrowse link
G Borcs5 BLOC-1 related complex subunit 5 ISO ClinVar Annotator: match by term: Corpus callosum agenesis ClinVar NCBI chr 4:168,396,034...168,466,968
Ensembl chr 4:168,396,775...168,464,352
JBrowse link
G C2cd3 C2 domain containing 3 centriole elongation regulator ISO ClinVar Annotator: match by term: Corpus callosum agenesis ClinVar PMID:25741868 NCBI chr 1:165,382,279...165,480,088
Ensembl chr 1:165,382,690...165,479,655
JBrowse link
G Cdh2 cadherin 2 ISO ClinVar Annotator: match by term: Corpus callosum agenesis
ClinVar Annotator: match by term: Corpus callosum, agenesis of
ClinVar PMID:25741868, PMID:31585109 NCBI chr18:8,146,971...8,366,037
Ensembl chr18:8,146,971...8,360,684
JBrowse link
G Dcc DCC netrin 1 receptor ISO ClinVar Annotator: match by term: Corpus callosum agenesis
ClinVar Annotator: match by term: Corpus callosum, agenesis of
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:24808016, PMID:25741868, PMID:28250454 NCBI chr18:66,518,213...67,629,801
Ensembl chr18:66,523,120...67,224,566
JBrowse link
G Dhcr7 7-dehydrocholesterol reductase ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of
ClinVar Annotator: match by term: Absence of corpus callosum
ClinVar PMID:8259166, PMID:8737829, PMID:9024557, PMID:9653161, PMID:9683613, PMID:10677299, PMID:10807690, PMID:10814720, PMID:10995508, PMID:11078571, PMID:11161831, PMID:11175299, PMID:11241839, PMID:11427181, PMID:11562938, PMID:12794707, PMID:15286151, PMID:15464432, PMID:15521979, PMID:15670717, PMID:15776424, PMID:15805162, PMID:15952211, PMID:16497572, PMID:16761297, PMID:16906538, PMID:17965227, PMID:18285838, PMID:19365639, PMID:19390132, PMID:20301322, PMID:20556518, PMID:20635399, PMID:21777499, PMID:22438180, PMID:22975760, PMID:23042628, PMID:23293579, PMID:23918729, PMID:24033266, PMID:24824134, PMID:25108116, PMID:25741868, PMID:25807282, PMID:26467025, PMID:28166604, PMID:28492532, PMID:30311386 NCBI chr 1:217,018,916...217,034,890
Ensembl chr 1:217,018,916...217,034,904
JBrowse link
G Dhx16 DEAH-box helicase 16 ISO ClinVar Annotator: match by term: Absence of corpus callosum ClinVar PMID:31256877 NCBI chr20:3,368,971...3,386,087
Ensembl chr20:3,367,150...3,386,106
JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Corpus callosum agenesis ClinVar PMID:25741868 NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
JBrowse link
G Fzd3 frizzled class receptor 3 ISO ClinVar Annotator: match by term: Corpus callosum agenesis ClinVar NCBI chr15:48,601,259...48,670,257
Ensembl chr15:48,601,266...48,670,257
JBrowse link
G Kif4a kinesin family member 4A ISO ClinVar Annotator: match by term: Corpus callosum agenesis ClinVar NCBI chr  X:70,461,700...70,561,084
Ensembl chr  X:70,461,718...70,561,189
JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Corpus callosum agenesis ClinVar PMID:17334363, PMID:18691967, PMID:19938245, PMID:20981778, PMID:25326635, PMID:25741868 NCBI chr  X:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Corpus callosum agenesis ClinVar PMID:25741868, PMID:28492532 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Absence of corpus callosum ClinVar PMID:28492532, PMID:30311386 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Sbf1 SET binding factor 1 ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:30311386 NCBI chr 7:130,261,552...130,288,566
Ensembl chr 7:130,261,552...130,288,509
JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Agenesis of corpus callosum ClinVar PMID:25741868 NCBI chr 8:118,802,478...118,888,224
Ensembl chr 8:118,803,075...118,888,224
JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27399968 NCBI chr 8:61,748,590...61,803,314
Ensembl chr 8:61,762,768...61,803,099
JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:24033266, PMID:28492532, PMID:30311386 NCBI chr 6:3,105,443...3,182,977
Ensembl chr 6:3,104,861...3,182,996
JBrowse link
G Thoc2 THO complex 2 ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:30311386 NCBI chr  X:128,153,824...128,268,327
Ensembl chr  X:128,161,895...128,268,322
JBrowse link
G Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Agenesis of corpus callosum ClinVar NCBI chr20:237,461...285,125
Ensembl chr20:237,506...284,943
JBrowse link
acrocallosal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep41 centrosomal protein 41 ISO ClinVar Annotator: match by term: Joubert syndrome 12/15, digenic ClinVar PMID:22246503 NCBI chr 4:57,966,783...58,006,931
Ensembl chr 4:57,966,783...58,006,839
JBrowse link
G Foxg1 forkhead box G1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18627055 NCBI chr 6:69,971,227...69,974,037
Ensembl chr 6:69,971,227...69,974,037
JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Acrocallosal syndrome
ClinVar Annotator: match by term: Acrocallosal syndrome, Schinzel type
DNA:missense,frameshift mutations:cds:
DNA:mutations:cds,splice junction:
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Joubert syndrome 12/15, digenic
OMIM
ClinVar
CTD
PMID:18414213, PMID:19666503, PMID:21552264, PMID:21633164, PMID:22246503, PMID:23125460, PMID:24033266, PMID:25131622, PMID:25741868, PMID:26092869, PMID:26174511, PMID:26633542, PMID:26648833, PMID:27081521, PMID:28492532, PMID:29321670, PMID:29915382, PMID:21552264, PMID:23125460 RGD:11068757, RGD:11553832 NCBI chr 1:141,434,183...141,452,592
Ensembl chr 1:141,434,625...141,451,075
JBrowse link
G Shh sonic hedgehog signaling molecule ISO ClinVar Annotator: match by term: Acrocallosal syndrome, Schinzel type ClinVar PMID:25741868, PMID:29321670 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
G Ticrr TOPBP1-interacting checkpoint and replication regulator ISO ClinVar Annotator: match by term: Acrocallosal syndrome, Schinzel type ClinVar NCBI chr 1:141,391,738...141,433,615
Ensembl chr 1:141,391,262...141,433,109
JBrowse link
AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh2 cadherin 2 ISO ClinVar Annotator: match by term: AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME ClinVar
OMIM
PMID:18798333, PMID:25741868, PMID:31585109, PMID:31650526 NCBI chr18:8,146,971...8,366,037
Ensembl chr18:8,146,971...8,360,684
JBrowse link
agenesis of the corpus callosum with peripheral neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emc4 ER membrane protein complex subunit 4 ISO ClinVar Annotator: match by term: Andermann syndrome ClinVar NCBI chr 3:103,852,139...103,857,172
Ensembl chr 3:103,852,139...103,857,158
JBrowse link
G Nop10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy ClinVar NCBI chr 3:103,747,654...103,748,739
Ensembl chr 3:103,747,654...103,748,739
JBrowse link
G Slc12a6 solute carrier family 12, member 6 ISO DNA:frameshift mutations, missense mutation:cds:multiple (human)
ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy
ClinVar Annotator: match by term: Andermann syndrome
ClinVar Annotator: match by OMIM:218000
ClinVar
OMIM
PMID:12368912, PMID:12838516, PMID:16606917, PMID:17893295, PMID:18414213, PMID:18566107, PMID:20020398, PMID:21628467, PMID:24341143, PMID:25525159, PMID:25741868, PMID:26392352, PMID:28492532, PMID:16606917 RGD:1580594 NCBI chr 3:103,752,213...103,852,686
Ensembl chr 3:103,753,238...103,852,686
JBrowse link
agnathia-otocephaly complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxh1 forkhead box H1 ISS OMIM:202650 MouseDO NCBI chr 7:117,730,307...117,733,076
Ensembl chr 7:117,730,307...117,732,387
JBrowse link
G Prrx1 paired related homeobox 1 ISO ClinVar Annotator: match by term: Dysgnathia complex
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:202650
OMIM
ClinVar
CTD
PMID:12244557, PMID:21294718, PMID:22211708, PMID:22674740, PMID:23444262, PMID:25741868 NCBI chr13:81,147,038...81,215,559
Ensembl chr13:81,147,348...81,214,546
JBrowse link
G Trappc10 trafficking protein particle complex 10 ISS OMIM:202650 MouseDO NCBI chr20:11,168,298...11,228,634
Ensembl chr20:11,168,298...11,228,625
JBrowse link
Chudley-Mccullough syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcc1 chloride channel CLIC-like 1 ISO ClinVar Annotator: match by term: Chudley-McCullough syndrome ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 2:211,450,426...211,479,885
Ensembl chr 2:211,450,484...211,479,884
JBrowse link
G Gpsm2 G-protein signaling modulator 2 ISO ClinVar Annotator: match by term: Chudley-McCullough syndrome
ClinVar Annotator: match by term: GPSM2-Related Disorders
CTD Direct Evidence: marker/mechanism
DNA:deletion, transversion mutations:cds,splice junction:c.1471delG,c.741delC,c.1661C>A,c.1062+1G>T (human);
ClinVar Annotator: match by OMIM:604213
OMIM
ClinVar
CTD
PMID:10449658, PMID:20602914, PMID:21348867, PMID:22578326, PMID:22987632, PMID:23208854, PMID:23494849, PMID:24033266, PMID:25741868, PMID:26445815, PMID:26467025, PMID:28492532, PMID:22578326 RGD:11062393 NCBI chr 2:211,480,120...211,528,096
Ensembl chr 2:211,480,400...211,527,919
JBrowse link
combined oxidative phosphorylation deficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps16 mitochondrial ribosomal protein S16 ISO ClinVar Annotator: match by OMIM:610498 OMIM
ClinVar
PMID:15505824 NCBI chr15:4,351,292...4,353,694
Ensembl chr15:4,351,292...4,353,694
JBrowse link
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igbp1 immunoglobulin binding protein 1 ISO ClinVar Annotator: match by OMIM:300472 OMIM
ClinVar
PMID:14556245 NCBI chr  X:70,322,764...70,345,005
Ensembl chr  X:70,322,755...70,345,005
JBrowse link
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frmd4a FERM domain containing 4A ISO ClinVar Annotator: match by term: CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA ClinVar
OMIM
PMID:25388005 NCBI chr17:77,642,302...77,918,210 JBrowse link
Donnai-Barrow syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbrd1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: Donnai Barrow syndrome ClinVar PMID:19136951, PMID:25741868, PMID:28492532 NCBI chr 9:30,939,555...31,038,381
Ensembl chr 9:30,939,555...31,038,379
JBrowse link
G Lrp2 LDL receptor related protein 2 ISO ClinVar Annotator: match by term: Donnai-Barrow syndrome
ClinVar Annotator: match by term: Donnai Barrow syndrome
ClinVar Annotator: match by OMIM:222448
OMIM
ClinVar
PMID:8266995, PMID:9475100, PMID:11964399, PMID:11994745, PMID:12923867, PMID:16828734, PMID:17632512, PMID:18414213, PMID:18553518, PMID:20359920, PMID:23033978, PMID:23992033, PMID:24319098, PMID:24406863, PMID:24876117, PMID:25158045, PMID:25326635, PMID:25682901, PMID:25741868, PMID:26118977, PMID:26529358, PMID:28492532, PMID:32238909 NCBI chr 3:55,665,153...55,822,484
Ensembl chr 3:55,665,145...55,822,551
JBrowse link
FG syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cask calcium/calmodulin dependent serine protein kinase ISO DNA:missense mutation:exon:p.R28L (c.83G>T) (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:19200522 RGD:11576290 NCBI chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155
JBrowse link
G Flna filamin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632775 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
G Med12 mediator complex subunit 12 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Keller syndrome
DNA:missense mutation:cds:2881C>T(p.R961W)(human)
DNA:missense mutation:cds:p.G958E(human)
CTD
ClinVar
PMID:8279489, PMID:10405444, PMID:10982179, PMID:16700052, PMID:17036352, PMID:17103446, PMID:17334363, PMID:17369503, PMID:18414213, PMID:20507344, PMID:20970104, PMID:23395478, PMID:23757202, PMID:24039113, PMID:24728327, PMID:25326637, PMID:25644381, PMID:25741868, PMID:26273451, PMID:26338144, PMID:26813965, PMID:28492532, PMID:30311386, PMID:17334363, PMID:20507344 RGD:12910952, RGD:12910948 NCBI chr  X:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812
JBrowse link
FG Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:71,272,030...71,279,973
Ensembl chr  X:71,272,042...71,279,977
JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: FG syndrome 1 OMIM
ClinVar
PMID:8279489, PMID:10405444, PMID:10982179, PMID:16700052, PMID:17036352, PMID:17103446, PMID:17334363, PMID:17369503, PMID:18414213, PMID:18691967, PMID:19938245, PMID:20507344, PMID:20970104, PMID:20981778, PMID:23395478, PMID:23757202, PMID:24039113, PMID:24728327, PMID:25326635, PMID:25326637, PMID:25644381, PMID:25741868, PMID:26273451, PMID:26338144, PMID:26813965, PMID:28492532, PMID:30311386 NCBI chr  X:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812
JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:71,199,390...71,227,460
Ensembl chr  X:71,199,491...71,222,732
JBrowse link
FG Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO ClinVar Annotator: match by term: FG syndrome 2 ClinVar
OMIM
PMID:16299064, PMID:17632775, PMID:25167861, PMID:25741868, PMID:28133863, PMID:28492532 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
FG Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Mental retardation, CASK-related, X-linked
ClinVar Annotator: match by term: FG syndrome 4
ClinVar Annotator: match by term: CASK-Related Disorder
ClinVar
OMIM
PMID:18414213, PMID:19165920, PMID:19200522, PMID:19377476, PMID:20029458, PMID:21498811, PMID:21609947, PMID:21735175, PMID:21954287, PMID:22452838, PMID:22495306, PMID:22709267, PMID:23165780, PMID:23623288, PMID:23662938, PMID:24768552, PMID:24781210, PMID:24893065, PMID:25741868, PMID:25886057, PMID:26467025, PMID:27799067, PMID:28492532, PMID:28783747, PMID:29691940 NCBI chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155
JBrowse link
G Gpr34 G protein-coupled receptor 34 ISO ClinVar Annotator: match by term: Mental retardation, CASK-related, X-linked ClinVar PMID:21735175, PMID:28492532 NCBI chr  X:10,022,986...10,043,504
Ensembl chr  X:10,023,489...10,031,167
JBrowse link
G Gpr82 G protein-coupled receptor 82 ISO ClinVar Annotator: match by term: Mental retardation, CASK-related, X-linked ClinVar PMID:21735175, PMID:28492532 NCBI chr  X:9,992,832...10,001,036
Ensembl chr  X:9,998,415...9,999,401
JBrowse link
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp148 zinc finger protein 148 ISO ClinVar Annotator: match by term: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES
ClinVar Annotator: match by term: Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
ClinVar
OMIM
PMID:25741868, PMID:27964749 NCBI chr11:70,509,909...70,618,422
Ensembl chr11:70,514,750...70,618,347
JBrowse link
hereditary spastic paraplegia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atxn2 ataxin 2 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:30311386 NCBI chr12:40,264,601...40,335,637
Ensembl chr12:40,266,662...40,332,612
JBrowse link
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive ClinVar PMID:28492532 NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309
JBrowse link
G Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chr16:8,576,858...8,686,131
Ensembl chr16:8,577,840...8,686,131
JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar PMID:25741868, PMID:28492532 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link
G Eif3j eukaryotic translation initiation factor 3, subunit J ISO ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive ClinVar NCBI chr 3:113,976,687...113,998,925
Ensembl chr 3:113,976,687...113,998,922
JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chr15:23,935,011...23,968,971
Ensembl chr15:23,934,585...23,969,011
JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868, PMID:30311386 NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:19626676, PMID:22577227, PMID:30311386 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Patl2 PAT1 homolog 2 ISO ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive ClinVar PMID:28492532 NCBI chr 3:114,065,814...114,075,404
Ensembl chr 3:114,066,840...114,074,803
JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:12369018, PMID:16575835, PMID:17559086, PMID:18640039, PMID:18752264, PMID:19299310, PMID:22323514, PMID:23757202, PMID:24304607, PMID:24491487, PMID:25741868, PMID:28492532, PMID:30311386, PMID:32860008 NCBI chr 3:11,253,424...11,271,873
Ensembl chr 3:11,254,026...11,271,872
JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:30311386 NCBI chr10:94,505,026...94,557,803
Ensembl chr10:94,505,026...94,557,764
JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:10699187, PMID:26671083, PMID:28492532, PMID:30311386 NCBI chr 6:22,230,067...22,282,166
Ensembl chr 6:22,230,928...22,281,886
JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive
ClinVar Annotator: match by term: Gait disturbance
ClinVar Annotator: match by OMIM:604360
OMIM
ClinVar
PMID:2795747, PMID:16773502, PMID:17322883, PMID:17717710, PMID:18067136, PMID:18079167, PMID:18332254, PMID:18337587, PMID:18361476, PMID:18414213, PMID:18439221, PMID:18586399, PMID:18663179, PMID:18717728, PMID:18835492, PMID:19087158, PMID:19105190, PMID:19194956, PMID:19196735, PMID:19438933, PMID:19513778, PMID:19763152, PMID:20110243, PMID:20301389, PMID:20307669, PMID:20390432, PMID:20571989, PMID:21625935, PMID:22154821, PMID:22175763, PMID:22237444, PMID:22246010, PMID:22406018, PMID:22696581, PMID:23043354, PMID:23121729, PMID:23443022, PMID:23699708, PMID:23733235, PMID:23881933, PMID:24033266, PMID:24090761, PMID:24482476, PMID:24833714, PMID:25059394, PMID:25174650, PMID:25299611, PMID:25326635, PMID:25525159, PMID:25588603, PMID:25741868, PMID:26064709, PMID:26183056, PMID:26374131, PMID:26467025, PMID:26539891, PMID:26556829, PMID:26601740, PMID:26671123, PMID:26742954, PMID:27066562, PMID:27071356, PMID:27077743, PMID:27084228, PMID:27217339, PMID:27256065, PMID:27544499, PMID:27790088, PMID:27884173, PMID:27900367, PMID:27904835, PMID:27957547, PMID:28130640, PMID:28160950, PMID:28492532, PMID:28554332, PMID:28832565, PMID:29246610, PMID:29342275, PMID:29389947, PMID:29525178, PMID:29691679, PMID:29732542, PMID:30311386, PMID:30363882, PMID:30373780, PMID:32214227, PMID:32860008 NCBI chr 3:113,999,600...114,064,438
Ensembl chr 3:113,999,719...114,065,170
JBrowse link
G Tbr1 T-box brain transcription factor 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chr 3:47,677,720...47,685,902
Ensembl chr 3:47,677,720...47,685,902
JBrowse link
G Trim69 tripartite motif-containing 69 ISO ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive ClinVar PMID:28492532 NCBI chr 3:114,103,011...114,123,293
Ensembl chr 3:114,102,875...114,126,523
JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:30311386 NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214
JBrowse link
G Wars1 tryptophanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:28369220, PMID:30311386 NCBI chr 6:132,771,026...132,802,262
Ensembl chr 6:132,771,021...132,802,210
JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:30311386 NCBI chr 7:99,625,379...99,677,237
Ensembl chr 7:99,625,619...99,677,268
JBrowse link
holoprosencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Boc BOC cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Holoprosencephaly ClinVar PMID:28677295 NCBI chr11:61,084,216...61,159,220
Ensembl chr11:61,083,757...61,158,838
JBrowse link
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Holoprosencephaly ClinVar NCBI chr 8:36,625,757...36,712,091
Ensembl chr 8:36,625,733...36,710,949
JBrowse link
G Cnot1 CCR4-NOT transcription complex, subunit 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:25741868, PMID:28525974, PMID:31006510, PMID:31006513 NCBI chr19:9,668,186...9,761,605
Ensembl chr19:9,668,186...9,761,605
JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO protein:increased localization: prechordal mesoderm, nucleus RGD PMID:18338389 RGD:12801437 NCBI chr 9:71,229,753...71,298,994
Ensembl chr 9:71,230,108...71,293,435
JBrowse link
G Disp1 dispatched RND transporter family member 1 ISO ClinVar Annotator: match by term: Lobar holoprosencephaly
ClinVar Annotator: match by term: Holoprosencephaly
ClinVar PMID:25741868 NCBI chr13:101,451,932...101,597,570
Ensembl chr13:101,451,932...101,597,570
JBrowse link
G Dll1 delta like canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Holoprosencephaly
ClinVar Annotator: match by term: Holoprosencephaly sequence
ClinVar PMID:28492532 NCBI chr 1:57,318,621...57,326,732
Ensembl chr 1:57,318,708...57,327,379
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Semilobar holoprosencephaly
ClinVar Annotator: match by term: Holoprosencephaly sequence
ClinVar PMID:20463092, PMID:22399515, PMID:25131394, PMID:25741868, PMID:26467025, PMID:26857713, PMID:26931467, PMID:28492532, PMID:29584859 NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Semilobar holoprosencephaly
ClinVar Annotator: match by term: Holoprosencephaly
ClinVar PMID:26931467 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Foxh1 forkhead box H1 ISO ClinVar Annotator: match by term: Holoprosencephaly
ClinVar Annotator: match by term: Holoprosencephaly sequence
ClinVar PMID:18538293, PMID:25741868, PMID:28492532 NCBI chr 7:117,730,307...117,733,076
Ensembl chr 7:117,730,307...117,732,387
JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Alobar holoprosencephaly ClinVar PMID:30311386 NCBI chr14:14,438,392...14,853,016
Ensembl chr14:14,439,082...14,689,554
JBrowse link
G Frem2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Alobar holoprosencephaly ClinVar PMID:30311386 NCBI chr 2:142,747,501...142,885,604
Ensembl chr 2:142,747,501...142,885,604
JBrowse link
G Gas1 growth arrest-specific 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17525797 NCBI chr17:4,846,116...4,849,350
Ensembl chr17:4,846,789...4,847,940
JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: microform holoprosencephaly
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:27585885 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
JBrowse link
G Kifc2 kinesin family member C2 ISO ClinVar Annotator: match by term: Holoprosencephaly ClinVar NCBI chr 7:117,722,732...117,730,702
Ensembl chr 7:117,723,263...117,730,702
JBrowse link
G Matn4 matrilin 4 ISO ClinVar Annotator: match by term: DEMYER SEQUENCE ClinVar PMID:25558065 NCBI chr 3:160,838,632...160,853,650
Ensembl chr 3:160,838,632...160,853,650
JBrowse link
G Nodal nodal growth differentiation factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Holoprosencephaly sequence
CTD
ClinVar
PMID:19064609, PMID:19553149, PMID:22352765, PMID:23264560, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr20:31,035,729...31,044,096
Ensembl chr20:31,035,729...31,044,096
JBrowse link
G Pgap1 post-GPI attachment to proteins inositol deacylase 1 ISS MouseDO NCBI chr 9:61,066,170...61,134,963
Ensembl chr 9:61,066,175...61,134,963
JBrowse link
G Pign phosphatidylinositol glycan anchor biosynthesis, class N ISS MouseDO NCBI chr13:25,510,593...25,662,943
Ensembl chr13:25,513,892...25,652,473
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Holoprosencephaly
ClinVar Annotator: match by term: Holoprosencephaly sequence
DNA:missense mutations:exon:multiple
ClinVar PMID:8302318, PMID:11941477, PMID:17001668, PMID:21188540, PMID:22703879, PMID:22820256, PMID:24055113, PMID:24728327, PMID:25637381, PMID:26489027, PMID:26893459, PMID:27153395, PMID:28492532, PMID:11941477 RGD:12798567 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Shh sonic hedgehog signaling molecule treatment ISO DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: Alobar holoprosencephaly
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Holoprosencephaly
DNA:missense mutation:CDS:p.V88D (263A>T) (human)
DNA:missense mutations, non-sense mutation:exon:multiple
ClinVar
CTD
PMID:15107988, PMID:17525797, PMID:23264560, PMID:27585885, PMID:29584859, PMID:30311386, PMID:31642701, PMID:8896572, PMID:18338389, PMID:11919111, PMID:10441331 RGD:9743971, RGD:12801437, RGD:12801425, RGD:12798570 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
G Six3 SIX homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10369266, PMID:10369266, PMID:15523651 RGD:1599336, RGD:1599335 NCBI chr 6:8,886,730...8,891,094
Ensembl chr 6:8,886,591...8,889,925
JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: microform holoprosencephaly ClinVar PMID:24728327, PMID:27363716, PMID:28492532 NCBI chr 1:266,143,766...266,241,742
Ensembl chr 1:266,143,818...266,239,016
JBrowse link
G Tdgf1 teratocarcinoma-derived growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12073012 NCBI chr 8:119,215,266...119,220,909
Ensembl chr 8:119,215,495...119,219,232
JBrowse link
G Tgif1 TGFB-induced factor homeobox 1 ISO holoprosencephaly-4, OMIM:142946
ClinVar Annotator: match by term: Holoprosencephaly
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16705179, PMID:25741868, PMID:28492532, PMID:10835638 RGD:1599407 NCBI chr 9:119,181,079...119,190,698
Ensembl chr 9:119,181,083...119,190,698
JBrowse link
G Twsg1 twisted gastrulation BMP signaling modulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15013800 NCBI chr 9:113,699,151...113,732,601
Ensembl chr 9:113,699,170...113,732,622
JBrowse link
G Zic2 Zic family member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence
DNA:insertion,deletion mutations:cds:
DNA:deletion, duplication, frameshift, transition mutations:cds,intron:
ClinVar PMID:25741868, PMID:18617531, PMID:9771712, PMID:22847929 RGD:11561948, RGD:11561954, RGD:11561949 NCBI chr15:108,908,366...108,913,812
Ensembl chr15:108,908,607...108,912,737
JBrowse link
holoprosencephaly 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:25741868 NCBI chr 8:36,625,757...36,712,091
Ensembl chr 8:36,625,733...36,710,949
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:18596921, PMID:21045958 NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
JBrowse link
G Gas1 growth arrest-specific 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:20583177, PMID:21842183 NCBI chr17:4,846,116...4,849,350
Ensembl chr17:4,846,789...4,847,940
JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:25741868 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
JBrowse link
G Zic2 Zic family member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:22859937 NCBI chr15:108,908,366...108,913,812
Ensembl chr15:108,908,607...108,912,737
JBrowse link
holoprosencephaly 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Holoprosencephaly 11
ClinVar Annotator: match by OMIM:614226
OMIM
ClinVar
PMID:21802063, PMID:25741868, PMID:28492532 NCBI chr 8:36,625,757...36,712,091
Ensembl chr 8:36,625,733...36,710,949
JBrowse link
Holoprosencephaly 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnot1 CCR4-NOT transcription complex, subunit 1 ISO ClinVar Annotator: match by term: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS OMIM
ClinVar
PMID:25741868, PMID:28525974, PMID:31006510, PMID:31006513 NCBI chr19:9,668,186...9,761,605
Ensembl chr19:9,668,186...9,761,605
JBrowse link
Holoprosencephaly 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stag2 stromal antigen 2 ISO ClinVar Annotator: match by term: HOLOPROSENCEPHALY 13, X-LINKED OMIM
ClinVar
PMID:28296084, PMID:30765867, PMID:31334757 NCBI chr  X:128,493,603...128,624,418
Ensembl chr  X:128,493,614...128,624,418
JBrowse link
holoprosencephaly 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six3 SIX homeobox 3 ISO ClinVar Annotator: match by term: Holoprosencephaly 2
ClinVar Annotator: match by OMIM:157170
OMIM
ClinVar
PMID:10369266, PMID:10923031, PMID:11039582, PMID:15221788, PMID:15523651, PMID:17001667, PMID:17584896, PMID:18791198, PMID:19346217, PMID:19353631, PMID:20157829, PMID:20531442, PMID:25741868, PMID:26080100, PMID:26467025, PMID:28492532 NCBI chr 6:8,886,730...8,891,094
Ensembl chr 6:8,886,591...8,889,925
JBrowse link
holoprosencephaly 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb development membrane protein 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:28492532 NCBI chr 4:2,116,094...2,274,111
Ensembl chr 4:2,116,094...2,201,749
JBrowse link
G Shh sonic hedgehog signaling molecule ISO ClinVar Annotator: match by term: Holoprosencephaly 3
ClinVar Annotator: match by OMIM:142945
OMIM
ClinVar
PMID:8896572, PMID:9302262, PMID:9600232, PMID:10479723, PMID:10556296, PMID:11471164, PMID:11857543, PMID:11919111, PMID:12567406, PMID:12709790, PMID:15292211, PMID:16282375, PMID:18655123, PMID:19478089, PMID:19533790, PMID:19603532, PMID:19920144, PMID:20157829, PMID:20425842, PMID:21416594, PMID:22897141, PMID:25741868, PMID:26467025, PMID:28127823, PMID:28492532, PMID:29205322, PMID:30311386 NCBI chr 4:718,538...727,691
Ensembl chr 4:718,538...727,691
JBrowse link
holoprosencephaly 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgif1 TGFB-induced factor homeobox 1 ISO ClinVar Annotator: match by OMIM:142946
ClinVar Annotator: match by term: Holoprosencephaly 4
ClinVar
OMIM
PMID:10835638, PMID:11810641, PMID:12522553, PMID:16199538, PMID:16962354, PMID:17001671, PMID:19431187, PMID:21940735, PMID:22125506, PMID:24123366, PMID:25741868, PMID:28492532 NCBI chr 9:119,181,079...119,190,698
Ensembl chr 9:119,181,083...119,190,698
JBrowse link
holoprosencephaly 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clybl citramalyl-CoA lyase ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:19955556, PMID:28492532 NCBI chr15:108,608,203...108,838,222
Ensembl chr15:108,608,204...108,838,235
JBrowse link
G Tm9sf2 transmembrane 9 superfamily member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:19955556, PMID:28492532 NCBI chr15:108,526,341...108,579,268
Ensembl chr15:108,526,014...108,579,256
JBrowse link
G Ubac2 UBA domain containing 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:19955556, PMID:28492532 NCBI chr15:108,286,407...108,433,531
Ensembl chr15:108,286,453...108,433,529
JBrowse link
G Zic2 Zic family member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 5
ClinVar Annotator: match by OMIM:609637
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9771712, PMID:11285244, PMID:11479728, PMID:15590697, PMID:19177455, PMID:19955556, PMID:21638761, PMID:21990207, PMID:22847929, PMID:25741868, PMID:28492532 NCBI chr15:108,908,366...108,913,812
Ensembl chr15:108,908,607...108,912,737
JBrowse link
G Zic5 Zic family member 5 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:19955556, PMID:28492532 NCBI chr15:108,891,992...108,907,601
Ensembl chr15:108,891,992...108,898,703
JBrowse link
holoprosencephaly 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 7
ClinVar Annotator: match by OMIM:610828
OMIM
ClinVar
PMID:1347096, PMID:8302318, PMID:9463336, PMID:11941477, PMID:12204003, PMID:12925203, PMID:15712338, PMID:16231297, PMID:16301862, PMID:17001668, PMID:17096318, PMID:17985375, PMID:18502968, PMID:19346217, PMID:20485063, PMID:21188540, PMID:21520333, PMID:22313357, PMID:22675565, PMID:22703879, PMID:22820256, PMID:22995991, PMID:23313819, PMID:23334667, PMID:23761049, PMID:23951062, PMID:24033266, PMID:24055113, PMID:24204797, PMID:24368541, PMID:24728327, PMID:24942795, PMID:25260786, PMID:25637381, PMID:25741868, PMID:26489027, PMID:26544948, PMID:26893459, PMID:27153395, PMID:27535533, PMID:27561271, PMID:27930734, PMID:28492532, PMID:28873162, PMID:29575684 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
holoprosencephaly 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 9
ClinVar Annotator: match by OMIM:610829
OMIM
ClinVar
PMID:1756909, PMID:14581620, PMID:15994174, PMID:16327884, PMID:17096318, PMID:17569090, PMID:19223936, PMID:20685056, PMID:20685856, PMID:21204792, PMID:21416594, PMID:22967285, PMID:22978696, PMID:23408573, PMID:24744436, PMID:25741868, PMID:26893459, PMID:28492532, PMID:29876959, PMID:30311386, PMID:30548673 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
JBrowse link
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Hartsfield syndrome
ClinVar
OMIM
PMID:15605412, PMID:16764984, PMID:19504604, PMID:23657145, PMID:23812909, PMID:24204987, PMID:24888332, PMID:25064402, PMID:25326635, PMID:25741868, PMID:26931467, PMID:28492532 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
Joubert Syndrome 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Joubert syndrome 12 ClinVar PMID:21633164, PMID:22246503 NCBI chr 1:141,434,183...141,452,592
Ensembl chr 1:141,434,625...141,451,075
JBrowse link
Lissencephaly and Agenesis of Corpus Callosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcx doublecortin ISO ClinVar Annotator: match by term: Lissencephaly and agenesis of corpus callosum
ClinVar Annotator: match by term: Subcortical laminar heterotopia, X-linked
ClinVar Annotator: match by synonym: Subcortical laminar heterotopia, X-linked
ClinVar PMID:9489699, PMID:9489700, PMID:10441340, PMID:11468322, PMID:12552055, PMID:17111359, PMID:18414213, PMID:25326635, PMID:25741868 NCBI chr  X:115,098,675...115,175,515
Ensembl chr  X:115,098,675...115,175,299
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lnpk lunapark, ER junction formation factor ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM ClinVar
OMIM
PMID:25741868, PMID:30032983 NCBI chr 3:61,432,128...61,494,828
Ensembl chr 3:61,433,863...61,494,778
JBrowse link
Partial Agenesis of Corpus Callosum, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Corpus callosum, partial agenesis of, X-linked
ClinVar Annotator: match by OMIM:304100
OMIM
ClinVar
PMID:8929944, PMID:16650080, PMID:25741868, PMID:29706646 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
JBrowse link
Proud Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arx aristaless related homeobox ISO ClinVar Annotator: match by term: Proud Levine Carpenter syndrome OMIM
ClinVar
PMID:1605226, PMID:14722918, PMID:18414213, PMID:22252899, PMID:25741868 NCBI chr  X:62,363,757...62,376,139
Ensembl chr  X:62,363,757...62,376,143
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 ClinVar Annotator: match by term: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly OMIM
ClinVar
PMID:1395931, PMID:19963421, PMID:25741868, PMID:25930971, PMID:26041762, PMID:26138499, PMID:27193218, PMID:29989513 NCBI chr14:104,582,884...104,612,417
Ensembl chr14:104,581,190...104,612,597
JBrowse link
Temtamy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsm4 acyl-CoA synthetase medium-chain family member 4 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 1:189,432,604...189,458,799
Ensembl chr 1:189,432,604...189,457,048
JBrowse link
G Aicda activation-induced cytidine deaminase ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:155,359,909...155,371,104
Ensembl chr 4:155,359,921...155,369,671
JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:155,386,367...155,414,034
Ensembl chr 4:155,386,711...155,401,480
JBrowse link
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,267,394...157,281,199
Ensembl chr 4:157,267,901...157,274,755
Ensembl chr 9:157,267,901...157,274,755
JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,126,060...157,136,825
Ensembl chr 4:157,125,998...157,136,829
JBrowse link
G C1rl complement C1r subcomponent like ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,108,190...157,122,689
Ensembl chr 4:157,107,469...157,123,446
JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,143,592...157,155,592
Ensembl chr 4:157,143,592...157,155,609
JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:155,681,767...155,691,240
Ensembl chr 4:155,684,029...155,690,869
JBrowse link
G Cd163 CD163 molecule ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:156,752,063...156,785,467
Ensembl chr 4:156,752,082...156,785,467
JBrowse link
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,347,876...157,351,889
Ensembl chr 4:157,348,020...157,351,604
JBrowse link
G Clec4a1 C-type lectin domain family 4, member A1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:155,947,794...155,959,909
Ensembl chr 4:155,947,453...155,959,993
JBrowse link
G Clec4a3 C-type lectin domain family 4, member A3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:155,913,366...155,923,079
Ensembl chr 4:155,913,366...155,923,079
JBrowse link
G Clec4b2 C-type lectin domain family 4, member B2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:156,107,720...156,131,226
Ensembl chr 4:156,107,620...156,131,583
JBrowse link
G Clec4d C-type lectin domain family 4, member D ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:156,253,084...156,264,766
Ensembl chr 4:156,253,079...156,264,769
JBrowse link
G Clec4e C-type lectin domain family 4, member E ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:156,271,087...156,276,243
Ensembl chr 4:156,270,920...156,276,304
JBrowse link
G Clstn3 calsyntenin 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,044,736...157,078,013
Ensembl chr 4:157,043,925...157,078,130
JBrowse link
G Dppa3 developmental pluripotency-associated 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:155,437,675...155,441,059
Ensembl chr 3:111,298,713...111,299,189
Ensembl chr 4:111,298,713...111,299,189
JBrowse link
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,222,366...157,230,647
Ensembl chr 4:157,222,385...157,230,647
JBrowse link
G Eno2 enolase 2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,285,192...157,294,090
Ensembl chr 4:157,285,179...157,294,047
JBrowse link
G Fam90a1 family with sequence similarity 90, member A1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr16:75,001,033...75,016,173 JBrowse link
G Foxj2 forkhead box J2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:155,653,446...155,679,815
Ensembl chr 4:155,653,718...155,679,793
JBrowse link
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:155,417,667...155,422,014
Ensembl chr 4:155,417,004...155,421,998
JBrowse link
G Gnb3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,352,558...157,359,237
Ensembl chr 4:157,352,372...157,358,262
JBrowse link
G Grcc10 gene rich cluster, C10 gene ISO ClinVar Annotator: match by term: Temtamy syndrome
ClinVar Annotator: match by OMIM:218340
OMIM
ClinVar
PMID:21937992, PMID:23453665, PMID:23453666, PMID:23633300, PMID:24798461, PMID:25326635, PMID:25558065, PMID:25741868, PMID:28097321, PMID:28454995, PMID:28492532, PMID:28600779, PMID:29383837 NCBI chr 4:157,264,383...157,266,042
Ensembl chr 4:157,264,383...157,266,018
JBrowse link
G Lpcat3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,181,722...157,222,997
Ensembl chr 4:157,181,795...157,222,996
JBrowse link
G Lrrc23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,294,386...157,304,590
Ensembl chr 4:157,294,287...157,304,653
JBrowse link
G Mfap5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:155,313,671...155,336,228
Ensembl chr 4:155,313,671...155,336,228
JBrowse link
G Mir141 microRNA 141 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,236,346...157,236,439
Ensembl chr 4:157,236,346...157,236,439
JBrowse link
G Mir200c microRNA 200c ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,236,786...157,236,854 JBrowse link
G Nanog Nanog homeobox ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:155,531,906...155,539,268
Ensembl chr 4:155,531,906...155,539,268
JBrowse link
G Necap1 NECAP endocytosis associated 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:155,709,712...155,724,801
Ensembl chr 4:155,709,613...155,724,790
JBrowse link
G P3h3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,359,331...157,375,186
Ensembl chr 4:157,359,332...157,372,861
JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:156,983,914...157,009,675
Ensembl chr 4:156,983,915...157,009,674
JBrowse link
G Phb2 prohibitin 2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,230,769...157,235,375
Ensembl chr 4:157,230,769...157,235,367
JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,239,141...157,263,890
Ensembl chr 4:157,239,142...157,263,890
JBrowse link
G Rimklb ribosomal modification protein rimK-like family member B ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:155,258,241...155,292,809
Ensembl chr 4:155,260,103...155,275,161
JBrowse link
G Slc2a3 solute carrier family 2 member 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:155,549,991...155,626,018
Ensembl chr 4:155,408,233...155,631,856
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,328,375...157,331,905
Ensembl chr 4:157,328,379...157,331,905
JBrowse link
G Usp5 ubiquitin specific peptidase 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,332,735...157,347,803
Ensembl chr 4:157,332,740...157,347,803
JBrowse link
Vici syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epg5 ectopic P-granules autophagy protein 5 homolog ISO ClinVar Annotator: match by term: Vici syndrome
ClinVar Annotator: match by term: Absent corpus callosum cataract immunodeficiency
ClinVar Annotator: match by OMIM:242840
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:3344762, PMID:10405446, PMID:21965116, PMID:23222957, PMID:23479740, PMID:23674064, PMID:24033266, PMID:25331754, PMID:25741868, PMID:26395118, PMID:26854214, PMID:26917586, PMID:27343256, PMID:27577878, PMID:28168853, PMID:28492532, PMID:28615637, PMID:28624465, PMID:29130391, PMID:32313153 NCBI chr18:74,299,965...74,397,115
Ensembl chr18:74,299,931...74,395,547
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Pathological Conditions, Signs and Symptoms 8739
      Anatomical Pathological Conditions 1525
        Agenesis of Corpus Callosum 142
          AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME 1
          Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 0
          Aicardi syndrome 0
          Ben Ari Shuper Mimouni Syndrome 0
          CAMFAK Syndrome 0
          CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA 1
          Calloso-Genital Dysplasia 0
          Chudley-Mccullough syndrome 2
          Curatolo Cilio Pessagno Syndrome 0
          Donnai-Barrow syndrome 2
          Duker Weiss Siber syndrome 0
          FG syndrome + 7
          Faye-Petersen Ward Carey Syndrome 0
          GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES 1
          Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum 0
          Kozlowski Ouvrier Syndrome 0
          Lissencephaly and Agenesis of Corpus Callosum 1
          Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps 0
          Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 0
          NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM 1
          Partial Agenesis of Corpus Callosum 0
          Partial Agenesis of Corpus Callosum, X-Linked 1
          Proud Syndrome 1
          Recurrent Spontaneous Hypothermia with Hypoplasia of the Corpus Callosum 0
          Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 0
          Saal Bulas Syndrome 0
          Sakoda Complex 0
          Shapiro Syndrome 0
          Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 0
          Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly 1
          Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 0
          Temtamy syndrome 39
          Thrombocytopenia Robin Sequence 0
          Vici syndrome 1
          acrocallosal syndrome + 5
          agenesis of the corpus callosum with peripheral neuropathy 3
          combined oxidative phosphorylation deficiency 2 1
          corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 1
          hereditary spastic paraplegia 11 18
          holoprosencephaly + 34
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        Congenital Abnormalities 4759
          Nervous System Malformations 1084
            Agenesis of Corpus Callosum 142
              AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME 1
              Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 0
              Aicardi syndrome 0
              Ben Ari Shuper Mimouni Syndrome 0
              CAMFAK Syndrome 0
              CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA 1
              Calloso-Genital Dysplasia 0
              Chudley-Mccullough syndrome 2
              Curatolo Cilio Pessagno Syndrome 0
              Donnai-Barrow syndrome 2
              Duker Weiss Siber syndrome 0
              FG syndrome + 7
              Faye-Petersen Ward Carey Syndrome 0
              GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES 1
              Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum 0
              Kozlowski Ouvrier Syndrome 0
              Lissencephaly and Agenesis of Corpus Callosum 1
              Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps 0
              Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 0
              NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM 1
              Partial Agenesis of Corpus Callosum 0
              Partial Agenesis of Corpus Callosum, X-Linked 1
              Proud Syndrome 1
              Recurrent Spontaneous Hypothermia with Hypoplasia of the Corpus Callosum 0
              Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 0
              Saal Bulas Syndrome 0
              Sakoda Complex 0
              Shapiro Syndrome 0
              Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 0
              Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly 1
              Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 0
              Temtamy syndrome 39
              Thrombocytopenia Robin Sequence 0
              Vici syndrome 1
              acrocallosal syndrome + 5
              agenesis of the corpus callosum with peripheral neuropathy 3
              combined oxidative phosphorylation deficiency 2 1
              corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 1
              hereditary spastic paraplegia 11 18
              holoprosencephaly + 34
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.