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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 Ageneses;   Corpus Callosum Agenesis;   Corpus Callosum Dysgenesis;   Corpus Callosum Hypogenesis;   Corpus Callosum Malformation
 primary_id: MESH:D061085
 alt_id: MIM:217990


show annotations for term's descendants           Sort by:
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 of ClinVar PMID:24531329 PMID:25741868 PMID:27031564 PMID:28135719 PMID:28221363 More... NCBI chr 3:177,310,258...177,340,379
Ensembl chr 3:177,310,258...177,336,188 		JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:25741868 PMID:30349098 PMID:34706719 NCBI chr 1:47,973,199...48,328,793
Ensembl chr 1:47,973,997...48,328,793 		JBrowse link
G Armc9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:94,250,492...94,376,589
Ensembl chr 9:94,250,859...94,376,589 		JBrowse link
G Arx aristaless related homeobox ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:25741868 NCBI chr  X:62,010,097...62,022,009
Ensembl chr  X:62,010,097...62,022,002 		JBrowse link
G Auts2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:31474318 NCBI chr12:29,739,138...30,830,386
Ensembl chr12:29,740,523...30,830,386 		JBrowse link
G Bcl11a BCL11 transcription factor A ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:31474318 NCBI chr14:102,230,147...102,325,289
Ensembl chr14:102,231,113...102,325,623 		JBrowse link
G Borcs5 BLOC-1 related complex subunit 5 ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:27435318 NCBI chr 4:169,190,025...169,272,335
Ensembl chr 4:169,204,528...169,271,819 		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 chr18:8,051,097...8,265,288
Ensembl chr18:8,051,097...8,265,288 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:16199547 PMID:23225343 PMID:25741868 PMID:28492532 NCBI chr16:84,885,597...84,996,482
Ensembl chr16:84,885,597...84,996,482 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Corpus callosum agenesis ClinVar PMID:12070251 PMID:12114483 PMID:16359492 PMID:17052327 PMID:18792986 More... NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,822,620...11,968,266 		JBrowse link
G Dcc DCC netrin 1 receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Corpus callosum, agenesis of 		CTD
ClinVar		 PMID:24808016 PMID:25741868 PMID:25763452 PMID:28250454 PMID:29366874 More... NCBI chr18:67,144,272...68,248,159
Ensembl chr18:67,149,179...68,247,541 		JBrowse link
G Dhx16 DEAH-box helicase 16 ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:31256877 NCBI chr20:2,866,804...2,879,790
Ensembl chr20:2,866,804...2,879,751 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:25741868 NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:114,946,982...115,058,574 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:88,161,342...88,175,102
Ensembl chr 1:88,160,988...88,175,102 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO ClinVar Annotator: match by term: Corpus callosum agenesis ClinVar PMID:18414213 PMID:26076356 PMID:26197979 NCBI chr16:7,771,311...7,841,895
Ensembl chr16:7,771,581...7,841,895 		JBrowse link
G Fzd3 frizzled class receptor 3 ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:31474318 NCBI chr15:43,596,962...43,664,047
Ensembl chr15:43,596,965...43,663,960 		JBrowse link
G Kif4a kinesin family member 4A ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:31474318 NCBI chr  X:69,761,803...69,864,335
Ensembl chr  X:69,761,883...69,864,335 		JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Corpus callosum agenesis ClinVar PMID:10405444 PMID:17334363 PMID:18691967 PMID:18805826 PMID:18973276 More... NCBI chr  X:70,444,615...70,467,780
Ensembl chr  X:70,444,705...70,467,708 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:117,143,468...117,177,411 		JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Corpus callosum agenesis ClinVar PMID:25741868 PMID:28492532 PMID:29276005 PMID:31474318 PMID:32710489 More... NCBI chr 8:119,390,207...119,475,863
Ensembl chr 8:119,390,207...119,475,863 		JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27399968 NCBI chr 8:66,377,471...66,432,150
Ensembl chr 8:66,381,657...66,434,542 		JBrowse link
G Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:31474318 NCBI chr20:96,561...144,414
Ensembl chr20:107,516...144,543 		JBrowse link
G Tuba1a tubulin, alpha 1A ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:20466733 PMID:25741868 PMID:28492532 PMID:30744660 PMID:31474318 More... NCBI chr 7:131,992,151...131,996,850
Ensembl chr 7:131,968,770...131,996,035 		JBrowse link
G Yars1 tyrosyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:29232904 NCBI chr 5:146,820,163...146,848,377
Ensembl chr 5:146,819,358...146,848,377 		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 PMID:28492532 NCBI chr 4:60,238,602...60,279,670
Ensembl chr 4:60,239,539...60,254,419 		JBrowse link
G Foxg1 forkhead box G1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18627055 NCBI chr 6:72,401,582...72,404,392
Ensembl chr 6:72,394,239...72,427,392 		JBrowse link
G Kif7 kinesin family member 7 ISO
ISS 		DNA:missense,frameshift mutations:cds:
DNA:mutations:cds,splice junction:
CTD Direct Evidence: marker/mechanism
OMIM:200990
ClinVar Annotator: match by term: Acrocallosal syndrome | ClinVar Annotator: match by term: HALLUX DUPLICATION, POSTAXIAL POLYDACTYLY, AND ABSENCE OF CORPUS CALLOSUM | ClinVar Annotator: match by term: Joubert syndrome 12/15, digenic | ClinVar Annotator: match by term: Schinzel syndrome 1 		OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19666503 More... RGD:11068757, RGD:11553832 NCBI chr 1:143,041,206...143,067,873
Ensembl chr 1:143,049,036...143,067,890 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO ClinVar Annotator: match by term: Acrocallosal syndrome ClinVar PMID:25741868 PMID:29321670 NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:7,687,846...7,697,901 		JBrowse link
G Ticrr TOPBP1-interacting checkpoint and replication regulator ISO ClinVar Annotator: match by term: Acrocallosal syndrome ClinVar NCBI chr 1:143,006,989...143,048,836
Ensembl chr 1:143,006,924...143,049,133 		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 OMIM
ClinVar		 PMID:16199547 PMID:18798333 PMID:25741868 PMID:28492532 PMID:31585109 More... NCBI chr18:8,051,097...8,265,288
Ensembl chr18:8,051,097...8,265,288 		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 Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum ClinVar PMID:15829536 PMID:22047666 PMID:25741868 PMID:27535533 PMID:28492532 NCBI chr 4:148,450,207...148,763,653
Ensembl chr 4:148,450,207...148,696,239 		JBrowse link
G Cln6 CLN6, transmembrane ER protein ISO ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:72,198,773...72,213,777
Ensembl chr 8:72,198,712...72,213,776 		JBrowse link
G Emc4 ER membrane protein complex subunit 4 ISO ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy ClinVar NCBI chr 3:119,624,100...119,633,170
Ensembl chr 3:119,624,100...119,629,118 		JBrowse link
G Nop10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy ClinVar PMID:25741868 NCBI chr 3:119,521,255...119,522,340
Ensembl chr 3:119,521,255...119,522,340 		JBrowse link
G Slc12a6 solute carrier family 12, member 6 ISO
ISS 		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: POLYNEUROPATHY, SENSORIMOTOR, WITH OR WITHOUT AGENESIS OF THE CORPUS CALLOSUM | ClinVar Annotator: match by term: Polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum
OMIM:218000
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1660691 PMID:9536098 PMID:12368912 PMID:12838516 PMID:16199547 More... RGD:1580594 NCBI chr 3:119,525,521...119,624,655
Ensembl chr 3:119,526,295...119,624,653 		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 7:110,268,608...110,272,105
Ensembl chr 7:110,268,612...110,270,692 		JBrowse link
G Prrx1 paired related homeobox 1 ISO ClinVar Annotator: match by term: Agnathia-otocephaly complex | ClinVar Annotator: match by term: PRRX1-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:12244557 PMID:21294718 PMID:22211708 PMID:22674740 PMID:23444262 More... NCBI chr13:78,136,783...78,205,379
Ensembl chr13:78,136,783...78,204,058 		JBrowse link
G Trappc10 trafficking protein particle complex subunit 10 ISS OMIM:202650 MouseDO NCBI chr20:10,438,404...10,498,740
Ensembl chr20:10,438,404...10,498,740 		JBrowse link
Aicardi 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: Aicardi syndrome ClinVar PMID:25741868 NCBI chr  X:62,010,097...62,022,009
Ensembl chr  X:62,010,097...62,022,002 		JBrowse link
Braddock-Carey Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif15 kinesin family member 15 ISO ClinVar Annotator: match by term: Braddock-carey syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:28150392 NCBI chr 8:131,479,340...131,550,209
Ensembl chr 8:131,479,337...131,550,202 		JBrowse link
chromosome 1q41-q42 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53bp2 tumor protein p53 binding protein, 2 ISS OMIM:612530 MouseDO NCBI chr13:96,620,429...96,677,090
Ensembl chr13:96,620,428...96,677,616 		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 Annotator: match by term: GPSM2-Related Disorders ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:198,984,455...199,015,015
Ensembl chr 2:198,984,495...199,015,014 		JBrowse link
G Gpsm2 G-protein signaling modulator 2 ISO ClinVar Annotator: match by term: Chudley-McCullough syndrome | ClinVar Annotator: match by term: Deafness, autosomal recessive 82 | ClinVar Annotator: match by term: Deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts | 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); 		OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:10449658 PMID:17576681 PMID:20602914 PMID:21348867 More... RGD:11062393 NCBI chr 2:199,015,250...199,063,788
Ensembl chr 2:199,015,250...199,063,056 		JBrowse link
G Sptb spectrin, beta, erythrocytic ISO ClinVar Annotator: match by term: Chudley-McCullough syndrome ClinVar PMID:1391962 PMID:1498324 PMID:8844207 PMID:25741868 PMID:26830532 More... NCBI chr 6:101,043,512...101,170,389
Ensembl chr 6:101,045,216...101,170,278 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CORPUS CALLOSUM, AGENESIS OF, WITH DYSMORPHISM AND FATAL LACTIC ACIDOSIS | ClinVar Annotator: match by term: MRPS16-related condition 		OMIM
CTD
ClinVar		 PMID:15505824 PMID:18539099 PMID:25741868 PMID:28492532 PMID:28749478 NCBI chr15:3,967,809...3,970,211
Ensembl chr15:3,968,054...3,970,185 		JBrowse link
corpus callosum agenesis-abnormal genitalia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arx aristaless related homeobox ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Corpus callosum agenesis-abnormal genitalia syndrome 		OMIM
CTD
ClinVar		 PMID:1605226 PMID:14722918 PMID:18414213 PMID:22252899 PMID:25741868 More... NCBI chr  X:62,010,097...62,022,009
Ensembl chr  X:62,010,097...62,022,002 		JBrowse link
G Smg6 SMG6 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Corpus callosum agenesis-abnormal genitalia syndrome ClinVar PMID:25741868 NCBI chr10:60,284,628...60,512,738
Ensembl chr10:60,284,628...60,512,733 		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 term: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | ClinVar Annotator: match by term: IGBP1-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:25741868 PMID:28492532 NCBI chr  X:69,622,925...69,645,167
Ensembl chr  X:69,622,917...69,646,149 		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 Annotator: match by term: FRMD4A-related condition OMIM
ClinVar		 PMID:25388005 PMID:25741868 PMID:28492532 NCBI chr17:78,577,062...79,167,924
Ensembl chr17:78,579,277...79,167,663 		JBrowse link
G Prpf18 pre-mRNA processing factor 18 ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia | ClinVar Annotator: match by term: FRMD4A-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr17:78,539,004...78,570,483
Ensembl chr17:78,539,839...78,600,250 		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 9:34,592,723...34,674,425
Ensembl chr 9:34,577,616...34,674,428 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO
ISS 		ClinVar Annotator: match by term: DBS/FOAR SYNDROME | ClinVar Annotator: match by term: Donnai-Barrow syndrome | ClinVar Annotator: match by term: FACIOOCULOACOUSTICORENAL SYNDROME | ClinVar Annotator: match by term: LRP2-related condition
OMIM:222448
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:8266995 PMID:9475100 PMID:9536098 PMID:12923867 PMID:16199547 More... NCBI chr 3:74,597,148...74,754,535
Ensembl chr 3:74,597,148...74,754,535 		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)
ClinVar Annotator: match by term: FG syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:25741868 PMID:19200522 RGD:11576290 NCBI chr  X:11,572,328...11,915,831
Ensembl chr  X:11,572,636...11,911,948 		JBrowse link
G Flna filamin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632775 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		JBrowse link
G Med12 mediator complex subunit 12 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FG syndrome | ClinVar Annotator: match by term: Keller syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, LARGE HEAD, IMPERFORATE ANUS, CONGENITAL HYPOTONIA, AND PARTIAL AGENESIS OF CORPUS CALLOSUM | ClinVar Annotator: match by term: Opitz-Kaveggia syndrome
DNA:missense mutation:cds:2881C>T(p.R961W)(human)
DNA:missense mutation:cds:p.G958E(human) 		CTD
ClinVar
RGD		 PMID:6711603 PMID:8279489 PMID:9536098 PMID:10405444 PMID:10982179 More... RGD:12910952, RGD:12910948 NCBI chr  X:70,444,615...70,467,780
Ensembl chr  X:70,444,705...70,467,708 		JBrowse link
FG Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxo4 forkhead box O4 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:70,425,218...70,432,120
Ensembl chr  X:70,425,563...70,432,120 		JBrowse link
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:70,541,845...70,549,776
Ensembl chr  X:70,541,862...70,549,843 		JBrowse link
G Il2rg interleukin 2 receptor subunit gamma ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:70,435,340...70,439,052
Ensembl chr  X:70,435,343...70,439,161 		JBrowse link
G Itgb1bp2 integrin subunit beta 1 binding protein 2 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:70,612,118...70,617,158
Ensembl chr  X:70,612,521...70,617,158 		JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: FG syndrome 1 OMIM
ClinVar		 PMID:6711603 PMID:8279489 PMID:9286458 PMID:10405444 PMID:16700052 More... NCBI chr  X:70,444,615...70,467,780
Ensembl chr  X:70,444,705...70,467,708 		JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:70,469,251...70,497,380
Ensembl chr  X:70,469,457...70,497,379 		JBrowse link
G Nono non-POU domain containing, octamer-binding ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:70,594,116...70,611,976
Ensembl chr  X:70,593,888...70,611,979 		JBrowse link
G Slc7a3 solute carrier family 7 member 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:70,250,089...70,256,610
Ensembl chr  X:70,250,099...70,256,059 		JBrowse link
G Snx12 sorting nexin 12 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:70,267,013...70,396,948
Ensembl chr  X:70,381,837...70,397,164 		JBrowse link
G Taf1 TATA-box binding protein associated factor 1 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:70,680,901...70,756,535
Ensembl chr  X:70,680,906...70,756,735 		JBrowse link
G Tex11 testis expressed 11 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:69,973,012...70,236,544
Ensembl chr  X:69,972,723...70,236,011 		JBrowse link
G Zmym3 zinc finger MYM-type containing 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:70,568,573...70,584,221
Ensembl chr  X:70,568,573...70,584,768 		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 OMIM
ClinVar		 PMID:9071288 PMID:10982489 PMID:12612583 PMID:15523633 PMID:15917206 More... NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		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: CASK-related disorder | ClinVar Annotator: match by term: FG syndrome 4 OMIM
ClinVar		 PMID:18414213 PMID:19165920 PMID:19200522 PMID:19377476 PMID:20029458 More... NCBI chr  X:11,572,328...11,915,831
Ensembl chr  X:11,572,636...11,911,948 		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 Pmm1 phosphomannomutase 1 ISO ClinVar Annotator: match by term: Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies ClinVar PMID:9070917 NCBI chr 7:115,346,767...115,357,137
Ensembl chr 7:115,346,771...115,357,024 		JBrowse link
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: ZNF148-related condition OMIM
ClinVar		 PMID:12840224 PMID:25741868 PMID:27964749 PMID:28492532 PMID:36444493 NCBI chr11:80,780,865...80,890,877
Ensembl chr11:80,786,087...80,890,877 		JBrowse link
hereditary spastic paraplegia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar PMID:28492532 NCBI chr 3:129,549,236...129,555,354
Ensembl chr 3:129,549,318...129,555,356 		JBrowse link
G Brca1 BRCA1, DNA repair associated ISO ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive ClinVar PMID:8644703 PMID:15146557 PMID:15591272 PMID:20104584 PMID:20345474 More... NCBI chr10:86,917,693...86,978,012
Ensembl chr10:86,917,693...86,977,763 		JBrowse link
G Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chr16:7,663,665...7,723,416
Ensembl chr16:7,663,665...7,723,416 		JBrowse link
G Eif3j eukaryotic translation initiation factor 3, subunit J ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar NCBI chr 3:129,438,715...129,460,953
Ensembl chr 3:129,438,722...129,462,246 		JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chr15:22,884,006...22,917,412
Ensembl chr15:22,884,006...22,917,412 		JBrowse link
G Patl2 PAT1 homolog 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar PMID:19105190 PMID:20110243 PMID:22154821 PMID:26556829 PMID:28492532 NCBI chr 3:129,526,563...129,543,267
Ensembl chr 3:129,527,845...129,537,486 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:71,360,840...71,479,870
Ensembl chr 3:71,360,841...71,479,791 		JBrowse link
G Slc25a13 solute carrier family 25 member 13 ISO ClinVar Annotator: match by term: Spastic paraplegia, mental retardation and thin corpus callosum ClinVar PMID:21507300 PMID:23053473 PMID:24069319 PMID:25741868 PMID:28492532 NCBI chr 4:35,145,721...35,328,403
Ensembl chr 4:35,145,721...35,328,360 		JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO
ISS 		ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, WITH MENTAL IMPAIRMENT AND THIN CORPUS CALLOSUM | ClinVar Annotator: match by term: Spastic paraplegia, mental retardation and thin corpus callosum
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive | ClinVar Annotator: match by term: Spastic paraplegia, mental retardation and thin corpus callosum
OMIM:604360
ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia, mental retardation and thin corpus callosum
ClinVar Annotator: match by term: Gait disturbance | ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 | ClinVar Annotator: match by term: Spastic paraplegia, mental retardation and thin corpus callosum 		OMIM
ClinVar
CTD
MouseDO		 PMID:2223744 PMID:2795747 PMID:3283541 PMID:9536098 PMID:16199547 More... NCBI chr 3:129,453,118...129,526,469
Ensembl chr 3:129,461,477...129,526,742 		JBrowse link
G Tbr1 T-box brain transcription factor 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chr 3:66,758,805...66,769,626
Ensembl chr 3:66,759,803...66,769,626 		JBrowse link
G Trim69 tripartite motif-containing 69 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar PMID:28492532 NCBI chr 3:129,565,060...129,585,629
Ensembl chr 3:129,564,934...129,585,629 		JBrowse link
holoprosencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adck5 aarF domain containing kinase 5 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:110,182,275...110,200,088
Ensembl chr 7:110,181,981...110,200,088 		JBrowse link
G Boc BOC cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28677295 NCBI chr11:69,628,703...69,704,009
Ensembl chr11:69,628,660...69,704,004 		JBrowse link
G Bop1 BOP1 ribosomal biogenesis factor ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:110,052,716...110,076,529
Ensembl chr 7:110,052,720...110,076,529 		JBrowse link
G Ccdc166 coiled-coil domain containing 166 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:109,574,271...109,576,074
Ensembl chr 7:109,574,273...109,576,074 		JBrowse link
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Holoprosencephaly spectrum disorder ClinVar PMID:20301702 PMID:25741868 PMID:26728615 PMID:28492532 NCBI chr 8:42,032,921...42,119,451
Ensembl chr 8:42,033,042...42,119,345 		JBrowse link
G Clybl citramalyl-CoA lyase ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chr15:105,690,283...105,912,347
Ensembl chr15:105,690,295...105,912,345 		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 PMID:32553196 NCBI chr19:9,261,290...9,352,636
Ensembl chr19:9,261,294...9,352,636 		JBrowse link
G Cpsf1 cleavage and polyadenylation specific factor 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:110,200,078...110,210,644
Ensembl chr 7:110,199,066...110,210,644 		JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO protein:increased localization: prechordal mesoderm, nucleus RGD PMID:18338389 RGD:12801437 NCBI chr 9:73,397,333...73,466,339
Ensembl chr 9:73,397,306...73,466,339 		JBrowse link
G Cripto cripto, EGF-CFC family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:12073012 NCBI chr 8:119,803,182...119,808,714
Ensembl chr 8:119,803,220...119,808,948 		JBrowse link
G Cyc1 cytochrome c-1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:109,947,750...109,950,142
Ensembl chr 7:109,947,766...109,950,657 		JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:108,719,349...108,726,024
Ensembl chr 7:108,719,349...108,725,763 		JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:108,689,319...108,694,808
Ensembl chr 7:108,689,165...108,694,921 		JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:110,104,514...110,119,091
Ensembl chr 7:110,098,906...110,115,016 		JBrowse link
G Disp1 dispatched RND transporter family member 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Lobar holoprosencephaly | ClinVar Annotator: match by term: Microform holoprosencephaly ClinVar PMID:25741868 PMID:28492532 PMID:28640243 NCBI chr13:97,252,574...97,398,329
Ensembl chr13:97,252,574...97,398,460 		JBrowse link
G Dll1 delta like canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Alobar holoprosencephaly | ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 1:64,985,161...64,993,274
Ensembl chr 1:64,985,161...64,993,276 		JBrowse link
G Dock9 dedicator of cytokinesis 9 ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chr15:105,018,341...105,289,799
Ensembl chr15:105,024,912...105,289,799 		JBrowse link
G Eef1d eukaryotic translation elongation factor 1 delta ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:109,462,645...109,478,021
Ensembl chr 7:109,462,646...109,489,531 		JBrowse link
G Eppk1 epiplakin 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:109,697,607...109,718,468
Ensembl chr 7:109,697,607...109,718,468 		JBrowse link
G Exosc4 exosome component 4 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:109,928,491...109,931,233
Ensembl chr 7:109,928,498...109,931,820 		JBrowse link
G Fam83h family with sequence similarity 83, member H ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:109,597,129...109,605,317
Ensembl chr 7:109,597,129...109,609,188 		JBrowse link
G Fbxl6 F-box and leucine-rich repeat protein 6 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:110,140,243...110,143,176
Ensembl chr 7:110,140,244...110,143,141 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Semilobar holoprosencephaly ClinVar PMID:20463092 PMID:22399515 PMID:25131394 PMID:25741868 PMID:26467025 More... NCBI chr 1:254,533,504...254,539,605
Ensembl chr 1:254,533,504...254,539,605 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Lobar holoprosencephaly | ClinVar Annotator: match by term: Microform holoprosencephaly | ClinVar Annotator: match by term: Semilobar holoprosencephaly ClinVar PMID:12627230 PMID:16199547 PMID:17154279 PMID:17530415 PMID:18034870 More... NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855 		JBrowse link
G Foxh1 forkhead box H1 ISO ClinVar Annotator: match by term: FOXH1-related condition | ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:18538293 PMID:25741868 PMID:28492532 NCBI chr 7:110,268,608...110,272,105
Ensembl chr 7:110,268,612...110,270,692 		JBrowse link
G Gas1 growth arrest-specific 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17525797 NCBI chr17:4,487,716...4,490,701
Ensembl chr17:4,484,283...4,497,657 		JBrowse link
G Gfus GDP-L-fucose synthase ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:109,492,808...109,497,719
Ensembl chr 7:109,492,809...109,497,662 		JBrowse link
G Ggact gamma-glutamylamine cyclotransferase ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chr15:106,375,924...106,406,649
Ensembl chr15:106,366,120...106,404,004 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Microform holoprosencephaly 		CTD
ClinVar		 PMID:25741868 PMID:27585885 NCBI chr13:32,499,678...32,716,418
Ensembl chr13:32,499,678...32,716,418 		JBrowse link
G Gli4 GLI family zinc finger 4 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:109,205,812...109,211,650
Ensembl chr 7:109,205,953...109,211,648 		JBrowse link
G Gml glycosylphosphatidylinositol anchored molecule like ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:108,578,386...108,601,738 JBrowse link
G Gpaa1 glycosylphosphatidylinositol anchor attachment 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:109,932,556...109,936,139
Ensembl chr 7:109,932,544...109,936,138 		JBrowse link
G Gpihbp1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:109,166,334...109,169,448
Ensembl chr 7:109,163,160...109,169,448 		JBrowse link
G Gpr18 G protein-coupled receptor 18 ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chr15:105,404,062...105,407,812
Ensembl chr15:105,404,077...105,408,836 		JBrowse link
G Gpr183 G protein-coupled receptor 183 ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chr15:105,445,129...105,457,192
Ensembl chr15:105,437,561...105,466,977 		JBrowse link
G Gpt glutamic--pyruvic transaminase ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:110,295,599...110,300,134
Ensembl chr 7:110,296,206...110,300,160 		JBrowse link
G Grina glutamate ionotropic receptor NMDA type subunit associated protein 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:109,842,870...109,846,048
Ensembl chr 7:109,843,196...109,846,042 		JBrowse link
G Gsdmd gasdermin D ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:109,423,209...109,427,771
Ensembl chr 7:109,422,910...109,430,722 		JBrowse link
G Hgh1 HGH1 homolog ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:109,972,079...109,975,398
Ensembl chr 7:109,972,609...109,975,395 		JBrowse link
G Hsf1 heat shock transcription factor 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:110,076,710...110,103,665
Ensembl chr 7:110,076,710...110,103,665 		JBrowse link
G Kifc2 kinesin family member C2 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:110,261,257...110,269,007
Ensembl chr 7:110,261,009...110,269,005 		JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:25741868 PMID:28492532 PMID:28735299 PMID:29534211 PMID:31680349 NCBI chr 3:187,647,904...187,695,974
Ensembl chr 3:187,647,904...187,696,173 		JBrowse link
G Ly6d lymphocyte antigen 6 family member D ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:108,532,207...108,533,943
Ensembl chr 7:108,532,215...108,533,716 		JBrowse link
G Ly6e lymphocyte antigen 6 family member E ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:108,815,970...108,820,444
Ensembl chr 7:108,816,887...108,820,443 		JBrowse link
G Ly6h lymphocyte antigen 6 family member H ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:109,139,527...109,142,108 JBrowse link
G Lynx1 Ly6/neurotoxin 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:108,521,783...108,527,012
Ensembl chr 7:108,521,780...108,527,130 		JBrowse link
G Lypd2 Ly6/Plaur domain containing 2 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:108,506,545...108,508,582
Ensembl chr 7:108,506,545...108,508,582 		JBrowse link
G Maf1 MAF1 homolog, negative regulator of RNA polymerase III ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:109,955,876...109,958,909
Ensembl chr 7:109,955,282...109,958,910 		JBrowse link
G Mafa MAF bZIP transcription factor A ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:109,313,021...109,315,813
Ensembl chr 7:109,313,121...109,315,760 		JBrowse link
G Mapk15 mitogen-activated protein kinase 15 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:109,575,619...109,595,339
Ensembl chr 7:109,575,561...109,595,346 		JBrowse link
G Matn4 matrilin 4 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:25558065 NCBI chr 3:173,539,966...173,554,984
Ensembl chr 3:173,539,966...173,554,984 		JBrowse link
G Mfsd3 major facilitator superfamily domain containing 3 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:110,300,254...110,304,108
Ensembl chr 7:110,302,018...110,304,112 		JBrowse link
G Mroh1 maestro heat-like repeat family member 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:109,979,344...110,052,800
Ensembl chr 7:109,983,337...110,052,801 		JBrowse link
G Mroh6 maestro heat-like repeat family member 6 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:109,448,738...109,456,034
Ensembl chr 7:109,449,268...109,455,087 		JBrowse link
G Naprt nicotinate phosphoribosyltransferase ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:109,457,328...109,460,817
Ensembl chr 7:109,457,378...109,460,817 		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 More... NCBI chr20:29,911,258...29,919,659
Ensembl chr20:29,911,258...29,919,659 		JBrowse link
G Nosip nitric oxide synthase interacting protein ISS MouseDO NCBI chr 1:104,679,783...104,695,570
Ensembl chr 1:104,679,882...104,695,119 		JBrowse link
G Nrbp2 nuclear receptor binding protein 2 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:109,679,330...109,685,656
Ensembl chr 7:109,679,330...109,685,588 		JBrowse link
G Oplah 5-oxoprolinase (ATP-hydrolysing) ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:109,892,136...109,932,403
Ensembl chr 7:109,891,405...109,915,979 		JBrowse link
G Parp10 poly (ADP-ribose) polymerase family, member 10 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:109,829,721...109,839,054
Ensembl chr 7:109,829,722...109,843,566 		JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chr15:106,034,586...106,374,908
Ensembl chr15:106,034,610...106,374,908 		JBrowse link
G Pgap1 post-GPI attachment to proteins inositol deacylase 1 ISS MouseDO NCBI chr 9:63,470,023...63,538,772
Ensembl chr 9:63,470,024...63,538,772 		JBrowse link
G Pign phosphatidylinositol glycan anchor biosynthesis, class N ISS MouseDO NCBI chr13:22,173,670...22,321,344
Ensembl chr13:22,176,576...22,321,379 		JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:109,768,447...109,829,798
Ensembl chr 7:109,768,447...109,828,089 		JBrowse link
G Ppp1r16a protein phosphatase 1, regulatory subunit 16A ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:110,272,307...110,295,452
Ensembl chr 7:110,272,282...110,295,450 		JBrowse link
G Ptch1 patched 1 ISO DNA:missense mutations:exon:multiple
ClinVar Annotator: match by term: Holoprosencephaly | ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Microform holoprosencephaly 		ClinVar
RGD		 PMID:8302318 PMID:11941477 PMID:12204003 PMID:17001668 PMID:21188540 More... RGD:12798567 NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,548,449...1,613,461 		JBrowse link
G Puf60 poly-U binding splicing factor 60 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:109,663,490...109,674,443
Ensembl chr 7:109,663,490...109,674,724 		JBrowse link
G Pycr3 pyrroline-5-carboxylate reductase 3 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:109,484,263...109,489,554 JBrowse link
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:110,304,092...110,311,426
Ensembl chr 7:110,304,094...110,311,258 		JBrowse link
G Rhpn1 rhophilin, Rho GTPase binding protein 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:109,272,676...109,283,444
Ensembl chr 7:109,272,715...109,283,444 		JBrowse link
G Scrib scribble planar cell polarity protein ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:109,640,034...109,663,354
Ensembl chr 7:109,640,034...109,663,022 		JBrowse link
G Scrt1 scratch family transcriptional repressor 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:110,121,640...110,125,290
Ensembl chr 7:110,121,640...110,125,290 		JBrowse link
G Scx scleraxis bHLH transcription factor ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:110,056,897...110,059,283
Ensembl chr 7:110,054,601...110,061,438 		JBrowse link
G Sharpin SHANK-associated RH domain interactor ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:109,951,336...109,955,552
Ensembl chr 7:109,950,345...109,955,552 		JBrowse link
G Shh sonic hedgehog signaling molecule treatment ISO DNA:mutations:cds:multiple (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Holoprosencephaly sequence
DNA:missense mutation:CDS:p.V88D (263A>T) (human)
DNA:missense mutations, non-sense mutation:exon:multiple 		CTD
ClinVar
RGD		 PMID:15107988 PMID:17525797 PMID:23264560 PMID:27585885 PMID:29584859 More... RGD:9743971, RGD:12801437, RGD:12801425, RGD:12798570 NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:7,687,846...7,697,901 		JBrowse link
G Six3 SIX homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:10369266 PMID:10369266 PMID:15523651 RGD:1599336, RGD:1599335 NCBI chr 6:14,791,937...14,796,365
Ensembl chr 6:14,789,354...14,804,175 		JBrowse link
G Slc15a1 solute carrier family 15 member 1 ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chr15:104,944,461...104,991,316
Ensembl chr15:104,944,463...104,989,369 		JBrowse link
G Slc39a4 solute carrier family 39 member 4 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:110,214,017...110,218,202
Ensembl chr 7:110,214,017...110,218,202 		JBrowse link
G Slc52a2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:110,126,632...110,146,647
Ensembl chr 7:110,143,220...110,158,809 		JBrowse link
G Slurp1 secreted Ly6/Plaur domain containing 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:108,500,933...108,502,349
Ensembl chr 7:108,500,933...108,502,349 		JBrowse link
G Spatc1 spermatogenesis and centriole associated 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:109,863,794...109,888,145
Ensembl chr 7:109,863,240...109,888,144 		JBrowse link
G Stk24 serine/threonine kinase 24 ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chr15:104,770,556...104,866,524
Ensembl chr15:104,773,569...104,865,975 		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 1:255,199,108...255,296,983
Ensembl chr 1:255,199,164...255,296,981 		JBrowse link
G Tgif1 TGFB-induced factor homeobox 1 ISO holoprosencephaly-4, OMIM:142946
ClinVar Annotator: match by term: Holoprosencephaly sequence
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:16705179 PMID:25741868 PMID:28492532 PMID:10835638 RGD:1599407 NCBI chr 9:118,194,735...118,204,354
Ensembl chr 9:118,194,444...118,204,442 		JBrowse link
G Tigd5 tigger transposable element derived 5 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:109,477,438...109,479,957
Ensembl chr 7:109,477,338...109,480,508 		JBrowse link
G Tm9sf2 transmembrane 9 superfamily member 2 ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chr15:105,606,082...105,660,715
Ensembl chr15:105,606,118...105,660,714 		JBrowse link
G Tmem249 transmembrane protein 249 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:110,137,814...110,140,081 JBrowse link
G Tmtc4 transmembrane O-mannosyltransferase targeting cadherins 4 ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chr15:106,406,795...106,463,226
Ensembl chr15:106,407,597...106,463,210 		JBrowse link
G Tonsl tonsoku-like, DNA repair protein ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:110,226,696...110,241,459
Ensembl chr 7:110,225,525...110,241,397 		JBrowse link
G Top1mt DNA topoisomerase I mitochondrial ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:109,223,269...109,248,855
Ensembl chr 7:109,139,527...109,246,799 		JBrowse link
G Twsg1 twisted gastrulation BMP signaling modulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15013800 NCBI chr 9:112,979,972...113,014,315
Ensembl chr 9:112,979,972...113,014,315 		JBrowse link
G Ubac2 UBA domain containing 2 ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chr15:105,366,776...105,514,435
Ensembl chr15:105,366,697...105,514,444 		JBrowse link
G Vps28 VPS28 subunit of ESCRT-I ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:110,222,638...110,226,486
Ensembl chr 7:110,222,638...110,225,569 		JBrowse link
G Zc3h3 zinc finger CCCH type containing 3 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:109,321,423...109,406,241
Ensembl chr 7:109,321,423...109,406,172 		JBrowse link
G Zfp41 zinc finger protein 41 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:109,188,010...109,198,546
Ensembl chr 7:109,187,608...109,214,127 		JBrowse link
G Zfp623 zinc finger protein 623 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:109,508,046...109,516,965
Ensembl chr 7:109,514,586...109,518,381 		JBrowse link
G Zfp707 zinc finger protein 707 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:109,560,298...109,567,256
Ensembl chr 7:109,547,812...109,567,265 		JBrowse link
G Zftraf1 zinc finger TRAF type containing 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 7:110,244,634...110,258,071
Ensembl chr 7:110,244,634...110,261,078 		JBrowse link
G Zic2 Zic family member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Lobar holoprosencephaly
DNA:insertion,deletion mutations:cds:
DNA:deletion, duplication, frameshift, transition mutations:cds,intron: 		ClinVar
RGD		 PMID:25741868 PMID:18617531 PMID:9771712 PMID:22847929 RGD:11561948, RGD:11561954, RGD:11561949 NCBI chr15:105,982,711...105,988,167
Ensembl chr15:105,983,342...105,988,167 		JBrowse link
G Zic5 Zic family member 5 ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chr15:105,964,932...105,973,669
Ensembl chr15:105,964,932...105,973,669 		JBrowse link
G Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 ISO ClinVar Annotator: match by term: Holoprosencephaly ClinVar PMID:11003938 PMID:25679214 PMID:25741868 PMID:31680349 PMID:38158857 NCBI chr  X:34,179,279...34,201,989
Ensembl chr  X:34,179,311...34,201,986 		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 PMID:28492532 NCBI chr 8:42,032,921...42,119,451
Ensembl chr 8:42,033,042...42,119,345 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:18596921 PMID:21045958 PMID:28492532 NCBI chr 1:254,533,504...254,539,605
Ensembl chr 1:254,533,504...254,539,605 		JBrowse link
G Gas1 growth arrest-specific 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:20583177 PMID:21842183 NCBI chr17:4,487,716...4,490,701
Ensembl chr17:4,484,283...4,497,657 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr13:32,499,678...32,716,418
Ensembl chr13:32,499,678...32,716,418 		JBrowse link
G Zic2 Zic family member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:22859937 NCBI chr15:105,982,711...105,988,167
Ensembl chr15:105,983,342...105,988,167 		JBrowse link
Holoprosencephaly 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Disp1 dispatched RND transporter family member 1 ISO ClinVar Annotator: match by term: DISP1-related condition | ClinVar Annotator: match by term: HOLOPROSENCEPHALY 10 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:38529886 NCBI chr13:97,252,574...97,398,329
Ensembl chr13:97,252,574...97,398,460 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES ClinVar PMID:25741868 PMID:28492532 NCBI chr13:32,499,678...32,716,418
Ensembl chr13:32,499,678...32,716,418 		JBrowse link
holoprosencephaly 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acrv1 acrosomal vesicle protein 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:44,593,246...44,598,823
Ensembl chr 8:44,592,344...44,599,019 		JBrowse link
G Ccdc15 coiled-coil domain containing 15 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:45,165,297...45,257,641
Ensembl chr 8:45,134,596...45,277,989 		JBrowse link
G Cdon cell adhesion associated, oncogene regulated ISO
ISS 		OMIM:614226
ClinVar Annotator: match by term: Holoprosencephaly 11 		OMIM
MouseDO
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20301702 PMID:21802063 More... NCBI chr 8:42,032,921...42,119,451
Ensembl chr 8:42,033,042...42,119,345 		JBrowse link
G Chek1 checkpoint kinase 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:44,609,417...44,629,867
Ensembl chr 8:44,609,417...44,629,359 		JBrowse link
G Ddx25 DEAD-box helicase 25 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:42,152,046...42,168,635
Ensembl chr 8:42,152,047...42,168,080 		JBrowse link
G Ei24 EI24, autophagy associated transmembrane protein ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:44,683,138...44,699,502
Ensembl chr 8:44,683,144...44,695,214 		JBrowse link
G Esam endothelial cell adhesion molecule ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:45,426,985...45,437,976
Ensembl chr 8:45,425,731...45,437,973 		JBrowse link
G Fam118b family with sequence similarity 118, member B ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:41,824,522...41,875,190
Ensembl chr 8:41,824,158...41,846,256 		JBrowse link
G Fez1 fasciculation and elongation protein zeta 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:44,733,288...44,778,519
Ensembl chr 8:44,733,300...44,784,097 		JBrowse link
G Foxred1 FAD-dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:41,789,557...41,818,064
Ensembl chr 8:41,808,843...41,817,980 		JBrowse link
G Hepacam hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:45,276,594...45,294,006
Ensembl chr 8:45,276,683...45,295,548 		JBrowse link
G Hyls1 HYLS1, centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:42,170,505...42,179,573
Ensembl chr 8:42,168,546...42,179,725 		JBrowse link
G Msantd2 Myb/SANT DNA binding domain containing 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:45,389,615...45,423,452
Ensembl chr 8:45,389,514...45,423,452 		JBrowse link
G Nrgn neurogranin ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:45,444,223...45,452,417
Ensembl chr 8:45,444,223...45,452,417 		JBrowse link
G Olr1271 olfactory receptor 1271 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:48,024,543...48,029,052
Ensembl chr 8:48,024,562...48,029,042 		JBrowse link
G Or10g9 olfactory receptor family 10 subfamily G member 9 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:49,249,594...49,250,529
Ensembl chr 8:49,249,594...49,250,529 		JBrowse link
G Or10g9b olfactory receptor family 10 subfamily G member 9B ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:49,255,369...49,256,301
Ensembl chr 8:49,255,369...49,256,301 		JBrowse link
G Or10s1 olfactory receptor family 10 subfamily S member 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:49,274,175...49,275,225
Ensembl chr 8:49,274,260...49,275,225 		JBrowse link
G Or4d5 olfactory receptor family 4 subfamily D member 5 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:49,321,020...49,321,964
Ensembl chr 8:49,321,020...49,321,964 		JBrowse link
G Or6all1 olfactory receptor family 6 subfamily A member L like 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 1:74,827,523...74,828,768 JBrowse link
G Or6x1 olfactory receptor family 6 subfamily X member 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:49,435,318...49,436,256
Ensembl chr 8:49,435,318...49,436,256 		JBrowse link
G Or8a1b olfactory receptor family 8 subfamily A member 1B ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:45,623,650...45,624,579
Ensembl chr 8:45,623,650...45,624,579 		JBrowse link
G Or8b12 olfactory receptor family 8 subfamily B member 12 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:45,668,452...45,669,384
Ensembl chr 8:45,668,452...45,669,384 		JBrowse link
G Or8b3 olfactory receptor family 8 subfamily B member 3 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:47,419,122...47,420,063
Ensembl chr 8:47,419,116...47,420,063 		JBrowse link
G Or8b4 olfactory receptor family 8 subfamily B member 4 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:45,908,892...45,909,821
Ensembl chr 8:45,908,892...45,909,821 		JBrowse link
G Or8b8 olfactory receptor family 8 subfamily B member 8 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:45,882,321...45,883,253
Ensembl chr 8:45,882,321...45,883,253 		JBrowse link
G Or8d4 olfactory receptor family 8 subfamily D member 4 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:49,367,154...49,368,089
Ensembl chr 8:49,367,154...49,368,089 		JBrowse link
G Or8g17d olfactory receptor family 8 subfamily G member 17D ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:48,077,717...48,078,652
Ensembl chr 8:48,077,717...48,078,652 		JBrowse link
G Or8g30 olfactory receptor family 8 subfamily G member 30 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:48,510,453...48,511,388
Ensembl chr 8:48,510,453...48,511,397 		JBrowse link
G Panx3 pannexin 3 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:45,554,474...45,566,378
Ensembl chr 8:45,555,501...45,566,378 		JBrowse link
G Pate1 prostate and testis expressed 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:42,306,092...42,308,549
Ensembl chr 8:42,306,092...42,308,549 		JBrowse link
G Pate2 prostate and testis expressed 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:42,271,831...42,283,219
Ensembl chr 8:42,267,732...42,308,199 		JBrowse link
G Pate3 prostate and testis expressed 3 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:42,271,846...42,273,857
Ensembl chr 8:42,270,845...42,274,063 		JBrowse link
G Pate4 prostate and testis expressed 4 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:42,246,492...42,249,233
Ensembl chr 8:42,246,978...42,249,234 		JBrowse link
G Pknox2 PBX/knotted 1 homeobox 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:44,789,464...45,051,933
Ensembl chr 8:44,789,467...44,979,754 		JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:42,168,194...42,176,527
Ensembl chr 8:42,168,251...42,176,522 		JBrowse link
G Robo3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:45,322,323...45,340,466
Ensembl chr 8:45,323,344...45,340,222 		JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:45,308,739...45,322,522
Ensembl chr 8:45,308,739...45,322,531 		JBrowse link
G Rpusd4 RNA pseudouridine synthase D4 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:41,875,217...41,884,702
Ensembl chr 8:41,874,764...41,884,699 		JBrowse link
G Scn3b sodium voltage-gated channel beta subunit 3 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:49,527,529...49,550,019
Ensembl chr 8:49,527,577...49,550,018 		JBrowse link
G Siae sialic acid acetylesterase ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:45,507,465...45,542,740
Ensembl chr 8:45,507,326...45,542,740 		JBrowse link
G Slc37a2 solute carrier family 37 member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:45,134,596...45,160,551
Ensembl chr 8:45,134,596...45,277,989 		JBrowse link
G Spa17 sperm autoantigenic protein 17 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:45,496,175...45,507,262
Ensembl chr 8:45,496,175...45,507,262 		JBrowse link
G Srpra SRP receptor subunit alpha ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:41,818,199...41,824,292
Ensembl chr 8:41,818,229...41,824,280 		JBrowse link
G Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:44,632,473...44,671,960
Ensembl chr 8:44,632,473...44,672,226 		JBrowse link
G Tbrg1 transforming growth factor beta regulator 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:45,544,018...45,551,676
Ensembl chr 8:45,544,018...45,551,676 		JBrowse link
G Tirap TIR domain containing adaptor protein ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:41,789,557...41,805,903
Ensembl chr 8:41,791,878...41,796,312 		JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:45,113,368...45,128,739
Ensembl chr 8:45,113,427...45,129,152 		JBrowse link
G Tmem225 transmembrane protein 225 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:49,394,638...49,397,196
Ensembl chr 8:49,394,504...49,397,485 		JBrowse link
G Vsig2 V-set and immunoglobulin domain containing 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:45,438,865...45,443,908
Ensembl chr 8:45,438,954...45,444,146 		JBrowse link
G Vwa5a von Willebrand factor A domain containing 5A ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:47,712,352...47,745,847
Ensembl chr 8:47,712,369...47,736,307 		JBrowse link
G Zfp202 zinc finger protein 202 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr 8:49,439,849...49,460,117
Ensembl chr 8:49,447,840...49,459,900 		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:25299611 PMID:25741868 PMID:28492532 PMID:28525974 PMID:31006510 More... NCBI chr19:9,261,290...9,352,636
Ensembl chr19:9,261,294...9,352,636 		JBrowse link
Holoprosencephaly 13, X-linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sh2d1a SH2 domain containing 1A ISO ClinVar Annotator: match by term: Holoprosencephaly 13, X-linked ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:126,239,191...126,267,425
Ensembl chr  X:126,239,200...126,267,424 		JBrowse link
G Stag2 STAG2 cohesin complex component ISO ClinVar Annotator: match by term: Holoprosencephaly 13, X-linked OMIM
ClinVar		 PMID:25741868 PMID:28296084 PMID:28492532 PMID:31334757 NCBI chr  X:125,839,660...125,971,209
Ensembl chr  X:125,840,401...125,971,209 		JBrowse link
Holoprosencephaly 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plch1 phospholipase C, eta 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 14 OMIM
ClinVar		 PMID:25741868 PMID:33820834 NCBI chr 2:150,298,547...150,514,120
Ensembl chr 2:150,299,075...150,464,019 		JBrowse link
holoprosencephaly 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: Holoprosencephaly 2 ClinVar PMID:18791198 PMID:19431187 PMID:20531442 PMID:28492532 NCBI chr 6:15,717,936...15,743,376
Ensembl chr 6:15,717,936...15,743,376 		JBrowse link
G Abcg8 ATP binding cassette subfamily G member 8 ISO ClinVar Annotator: match by term: Holoprosencephaly 2 ClinVar PMID:18791198 PMID:19431187 PMID:20531442 PMID:28492532 NCBI chr 6:15,698,448...15,717,730
Ensembl chr 6:15,698,448...15,717,730 		JBrowse link
G Camkmt calmodulin-lysine N-methyltransferase ISO ClinVar Annotator: match by term: Holoprosencephaly 2 ClinVar PMID:18791198 PMID:19431187 PMID:20531442 PMID:28492532 NCBI chr 6:14,951,838...15,332,966
Ensembl chr 6:14,951,840...15,333,106 		JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 2 ClinVar PMID:18791198 PMID:19431187 PMID:20531442 PMID:28492532 NCBI chr 6:15,745,350...15,778,166
Ensembl chr 6:15,745,350...15,778,166 		JBrowse link
G Lrpprc leucine-rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: Holoprosencephaly 2 ClinVar PMID:18791198 PMID:19431187 PMID:20531442 PMID:28492532 NCBI chr 6:15,612,638...15,695,113
Ensembl chr 6:15,612,655...15,695,116 		JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 2 ClinVar PMID:25741868 PMID:28492532 PMID:34008892 NCBI chr17:9,317,085...9,431,528
Ensembl chr17:9,317,085...9,452,250 		JBrowse link
G Ppm1b protein phosphatase, Mg2+/Mn2+ dependent, 1B ISO ClinVar Annotator: match by term: Holoprosencephaly 2 ClinVar PMID:18791198 PMID:19431187 PMID:20531442 PMID:28492532 NCBI chr 6:15,399,559...15,460,301
Ensembl chr 6:15,399,562...15,460,756 		JBrowse link
G Prepl prolyl endopeptidase-like ISO ClinVar Annotator: match by term: Holoprosencephaly 2 ClinVar PMID:18791198 PMID:19431187 PMID:20531442 PMID:28492532 NCBI chr 6:15,333,107...15,362,825
Ensembl chr 6:15,333,077...15,363,231 		JBrowse link
G Six2 SIX homeobox 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 2 ClinVar PMID:18791198 PMID:19431187 PMID:20531442 PMID:28492532 PMID:32796691 NCBI chr 6:14,727,756...14,734,219
Ensembl chr 6:14,727,859...14,731,941 		JBrowse link
G Six3 SIX homeobox 3 ISO
ISS 		ClinVar Annotator: match by term: Holoprosencephaly 2 | ClinVar Annotator: match by term: SIX3-related condition
OMIM:157170
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:10369266 PMID:10923031 PMID:11039582 PMID:14711609 PMID:15221788 More... NCBI chr 6:14,791,937...14,796,365
Ensembl chr 6:14,789,354...14,804,175 		JBrowse link
G Slc3a1 solute carrier family 3 member 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 2 ClinVar PMID:18791198 PMID:19431187 PMID:20531442 PMID:28492532 NCBI chr 6:15,361,037...15,396,695
Ensembl chr 6:15,361,046...15,394,775 		JBrowse link
holoprosencephaly 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnpy1 canopy FGF signaling regulator 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 4:7,870,403...7,925,266
Ensembl chr 4:7,869,829...7,925,266 		JBrowse link
G Dnajb6 DnaJ heat shock protein family (Hsp40) member B6 ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 4:6,010,081...6,232,052
Ensembl chr 4:6,128,070...6,232,005 		JBrowse link
G En2 engrailed homeobox 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 4:7,954,953...7,960,793
Ensembl chr 4:7,954,953...7,960,793 		JBrowse link
G Htr5a 5-hydroxytryptamine receptor 5A ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 4:8,178,802...8,188,485
Ensembl chr 4:8,178,802...8,200,482 		JBrowse link
G Insig1 insulin induced gene 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 4:8,049,339...8,057,812
Ensembl chr 4:8,049,556...8,057,778 		JBrowse link
G Lmbr1 limb development membrane protein 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 4:6,649,824...6,820,525
Ensembl chr 4:6,649,821...6,822,238 		JBrowse link
G Mnx1 motor neuron and pancreas homeobox 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 4:6,541,645...6,546,604
Ensembl chr 4:6,541,645...6,546,604 		JBrowse link
G Ncapg2 non-SMC condensin II complex, subunit G2 ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 6:143,484,651...143,561,850
Ensembl chr 6:143,485,944...143,560,249 		JBrowse link
G Nom1 nucleolar protein with MIF4G domain 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 4:6,562,931...6,586,093
Ensembl chr 4:6,567,836...6,585,036 		JBrowse link
G Paxip1 PAX interacting protein 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 4:8,258,930...8,310,490
Ensembl chr 4:8,258,952...8,310,488 		JBrowse link
G Ptprn2 protein tyrosine phosphatase, receptor type N2 ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 6:143,582,568...144,334,573
Ensembl chr 6:143,582,547...144,336,744 		JBrowse link
G Rbm33 RNA binding motif protein 33 ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 4:7,714,660...7,825,469
Ensembl chr 4:7,720,180...7,820,882 		JBrowse link
G Rnf32 ring finger protein 32 ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 4:6,822,700...6,884,411
Ensembl chr 4:6,824,970...6,883,976 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO
ISS 		ClinVar Annotator: match by term: Holoprosencephaly 3
OMIM:142945
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:8896572 PMID:9302262 PMID:9600232 PMID:10479723 PMID:10556296 More... NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:7,687,846...7,697,901 		JBrowse link
G Ube3c ubiquitin protein ligase E3C ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 4:6,323,831...6,425,085
Ensembl chr 4:6,323,831...6,424,845 		JBrowse link
holoprosencephaly 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlgap1 DLG associated protein 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 4 ClinVar PMID:16199538 PMID:16962354 PMID:17001671 PMID:19431187 PMID:22125506 More... NCBI chr 9:117,304,144...118,173,463
Ensembl chr 9:117,614,061...118,173,463 		JBrowse link
G Emilin2 elastin microfibril interfacer 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 4 ClinVar PMID:16199538 PMID:16962354 PMID:17001671 PMID:19431187 PMID:22125506 More... NCBI chr 9:118,607,312...118,667,087
Ensembl chr 9:118,606,891...118,666,957 		JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 4 ClinVar PMID:16199538 PMID:16962354 PMID:17001671 PMID:19431187 PMID:22125506 More... NCBI chr 9:118,529,988...118,604,796
Ensembl chr 9:118,529,943...118,604,796 		JBrowse link
G Myl12a myosin light chain 12A ISO ClinVar Annotator: match by term: Holoprosencephaly 4 ClinVar PMID:16199538 PMID:16962354 PMID:17001671 PMID:19431187 PMID:22125506 More... NCBI chr 9:118,338,592...118,346,277
Ensembl chr 9:118,338,604...118,342,634 		JBrowse link
G Myl12b myosin light chain 12B ISO ClinVar Annotator: match by term: Holoprosencephaly 4 ClinVar PMID:16199538 PMID:16962354 PMID:17001671 PMID:19431187 PMID:22125506 More... NCBI chr 9:118,320,479...118,334,810
Ensembl chr 9:118,320,489...118,324,418 		JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 4 ClinVar PMID:16199538 PMID:16962354 PMID:17001671 PMID:19431187 PMID:22125506 More... NCBI chr 9:118,362,547...118,485,954
Ensembl chr 9:118,362,621...118,485,952 		JBrowse link
G Tgif1 TGFB-induced factor homeobox 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Holoprosencephaly 4 | ClinVar Annotator: match by term: TGIF1-related condition 		OMIM
CTD
ClinVar		 PMID:10835638 PMID:11810641 PMID:12522553 PMID:16199538 PMID:16962354 More... NCBI chr 9:118,194,735...118,204,354
Ensembl chr 9:118,194,444...118,204,442 		JBrowse link
holoprosencephaly 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc4 ATP binding cassette subfamily C member 4 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:101,948,387...102,182,912
Ensembl chr15:101,949,433...102,181,375 		JBrowse link
G Bivm basic, immunoglobulin-like variable motif containing ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:28492532 NCBI chr 9:53,760,885...53,797,125
Ensembl chr 9:53,761,331...53,797,118 		JBrowse link
G Ccdc168 coiled-coil domain containing 168 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:28492532 NCBI chr 9:53,690,704...53,728,801
Ensembl chr 9:53,690,786...53,727,639 		JBrowse link
G Cldn10 claudin 10 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:102,269,858...102,361,589
Ensembl chr15:102,269,858...102,361,589 		JBrowse link
G Clybl citramalyl-CoA lyase ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:105,690,283...105,912,347
Ensembl chr15:105,690,295...105,912,345 		JBrowse link
G Dct dopachrome tautomerase ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:101,469,159...101,508,029
Ensembl chr15:101,469,159...101,508,029 		JBrowse link
G Dnajc3 DnaJ heat shock protein family (Hsp40) member C3 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:102,432,667...102,475,643
Ensembl chr15:102,432,663...102,475,643 		JBrowse link
G Dock9 dedicator of cytokinesis 9 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:105,018,341...105,289,799
Ensembl chr15:105,024,912...105,289,799 		JBrowse link
G Dzip1 DAZ interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:102,363,392...102,417,085
Ensembl chr15:102,363,392...102,417,085 		JBrowse link
G Ercc5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:28492532 NCBI chr 9:53,801,471...53,846,611
Ensembl chr 9:53,801,714...53,875,084 		JBrowse link
G Farp1 FERM, ARH/RhoGEF and pleckstrin domain protein 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:104,531,196...104,770,148
Ensembl chr15:104,531,813...104,770,147 		JBrowse link
G Fgf14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:107,442,800...108,086,486
Ensembl chr15:107,451,634...108,085,808 		JBrowse link
G Ggact gamma-glutamylamine cyclotransferase ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:106,375,924...106,406,649
Ensembl chr15:106,366,120...106,404,004 		JBrowse link
G Gpc5 glypican 5 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:98,614,499...100,051,285
Ensembl chr15:98,646,340...100,051,514 		JBrowse link
G Gpc6 glypican 6 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:100,437,415...101,435,038
Ensembl chr15:100,437,943...101,435,027 		JBrowse link
G Gpr18 G protein-coupled receptor 18 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:105,404,062...105,407,812
Ensembl chr15:105,404,077...105,408,836 		JBrowse link
G Gpr180 G protein-coupled receptor 180 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:101,602,870...101,635,556
Ensembl chr15:101,603,259...101,635,556 		JBrowse link
G Gpr183 G protein-coupled receptor 183 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:105,445,129...105,457,192
Ensembl chr15:105,437,561...105,466,977 		JBrowse link
G Hs6st3 heparan sulfate 6-O-sulfotransferase 3 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:102,688,420...103,407,725
Ensembl chr15:102,688,365...103,408,384 		JBrowse link
G Ipo5 importin 5 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:104,397,626...104,447,985
Ensembl chr15:104,397,276...104,447,985 		JBrowse link
G Itgbl1 integrin subunit beta like 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:107,186,792...107,448,335
Ensembl chr15:107,186,689...107,451,098 		JBrowse link
G Mbnl2 muscleblind-like splicing regulator 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:103,792,134...103,949,827
Ensembl chr15:103,792,152...103,949,827 		JBrowse link
G Mettl21c methyltransferase 21C, AARS1 lysine ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr 9:53,625,473...53,637,220
Ensembl chr 9:53,626,093...53,637,204 		JBrowse link
G Mir17 microRNA 17 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:98,587,848...98,587,931
Ensembl chr15:98,587,848...98,587,931 		JBrowse link
G Mir18a microRNA 18a ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:98,587,984...98,588,079
Ensembl chr15:98,587,984...98,588,079 		JBrowse link
G Mir19a microRNA 19a ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:98,588,131...98,588,212
Ensembl chr15:98,588,131...98,588,212 		JBrowse link
G Mir19b1 microRNA 19b-1 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:98,588,433...98,588,519
Ensembl chr15:98,588,433...98,588,519 		JBrowse link
G Mir20a microRNA 20a ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:98,588,303...98,588,387
Ensembl chr15:98,588,303...98,588,387 		JBrowse link
G Mir92a1 microRNA 92a-1 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:98,588,555...98,588,632
Ensembl chr15:98,588,555...98,588,632 		JBrowse link
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:106,805,209...107,148,837
Ensembl chr15:106,805,209...107,147,858 		JBrowse link
G Oxgr1 oxoglutarate receptor 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:103,551,338...103,573,611
Ensembl chr15:103,552,861...103,553,874 		JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:106,034,586...106,374,908
Ensembl chr15:106,034,610...106,374,908 		JBrowse link
G Poglut2 protein O-glucosyltransferase 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:28492532 NCBI chr 9:53,748,484...53,801,453
Ensembl chr 9:53,740,998...53,760,588 		JBrowse link
G Rap2a RAP2A, member of RAS oncogene family ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:104,003,744...104,004,234 JBrowse link
G Slc10a2 solute carrier family 10 member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:28492532 NCBI chr16:91,088,089...91,111,025
Ensembl chr16:91,076,423...91,111,025 		JBrowse link
G Slc15a1 solute carrier family 15 member 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:104,944,461...104,991,316
Ensembl chr15:104,944,463...104,989,369 		JBrowse link
G Sox21 SRY-box transcription factor 21 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:101,699,580...101,703,175
Ensembl chr15:101,674,512...101,819,980 		JBrowse link
G Stk24 serine/threonine kinase 24 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:104,770,556...104,866,524
Ensembl chr15:104,773,569...104,865,975 		JBrowse link
G Tex30 testis expressed 30 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:28492532 NCBI chr 9:53,735,512...53,744,672
Ensembl chr 9:53,735,512...53,741,042 		JBrowse link
G Tgds TDP-glucose 4,6-dehydratase ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:101,581,765...101,602,779
Ensembl chr15:101,582,227...101,602,718 		JBrowse link
G Tm9sf2 transmembrane 9 superfamily member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:105,606,082...105,660,715
Ensembl chr15:105,606,118...105,660,714 		JBrowse link
G Tmtc4 transmembrane O-mannosyltransferase targeting cadherins 4 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:106,406,795...106,463,226
Ensembl chr15:106,407,597...106,463,210 		JBrowse link
G Tpp2 tripeptidyl peptidase 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr 9:53,538,788...53,620,253
Ensembl chr 9:53,538,313...53,620,251 		JBrowse link
G Ubac2 UBA domain containing 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:105,366,776...105,514,435
Ensembl chr15:105,366,697...105,514,444 		JBrowse link
G Uggt2 UDP-glucose glycoprotein glucosyltransferase 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:102,480,239...102,646,291
Ensembl chr15:102,480,781...102,646,410 		JBrowse link
G Zic2 Zic family member 2 ISO
ISS 		ClinVar Annotator: match by term: Holoprosencephaly 5 | ClinVar Annotator: match by term: ZIC2-related condition
OMIM:609637
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:9771712 PMID:11285244 PMID:15221788 PMID:15590697 More... NCBI chr15:105,982,711...105,988,167
Ensembl chr15:105,983,342...105,988,167 		JBrowse link
G Zic5 Zic family member 5 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr15:105,964,932...105,973,669
Ensembl chr15:105,964,932...105,973,669 		JBrowse link
holoprosencephaly 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Disp1 dispatched RND transporter family member 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 7 ClinVar PMID:25741868 NCBI chr13:97,252,574...97,398,329
Ensembl chr13:97,252,574...97,398,460 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 7
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1347096 PMID:8302318 PMID:9463336 PMID:11941477 PMID:12204003 More... NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,548,449...1,613,461 		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: Cerebellar cyst | ClinVar Annotator: match by term: GLI2-related condition | ClinVar Annotator: match by term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES | ClinVar Annotator: match by term: Holoprosencephaly 9
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1756909 PMID:3320637 PMID:9536098 PMID:10725236 PMID:14581620 More... NCBI chr13:32,499,678...32,716,418
Ensembl chr13:32,499,678...32,716,418 		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 term: Hartsfield syndrome | ClinVar Annotator: match by term: Hartsfield-Bixler-Demyer syndrome OMIM
ClinVar		 PMID:1456217 PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 More... NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855 		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 PMID:25741868 PMID:26174511 PMID:28492532 More... NCBI chr 1:143,041,206...143,067,873
Ensembl chr 1:143,049,036...143,067,890 		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: Subcortical laminar heterotopia, X-linked ClinVar PMID:9489699 PMID:9489700 PMID:9618162 PMID:10441340 PMID:10749977 More... NCBI chr  X:112,227,455...112,370,291
Ensembl chr  X:112,227,455...112,304,161 		JBrowse link
neurodevelopmental disorder with dysmorphic facies and thin corpus callosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Supt16h SPT16 homolog, facilitates chromatin remodeling subunit ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum | ClinVar Annotator: match by term: SUPT16H-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31924697 PMID:36255738 PMID:38818817 NCBI chr15:27,341,196...27,378,314
Ensembl chr15:27,341,196...27,378,314 		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 Lnp1 leukemia NUP98 fusion partner 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum ClinVar NCBI chr11:57,129,986...57,149,594
Ensembl chr11:57,123,129...57,148,586 		JBrowse link
G Lnpk lunapark, ER junction formation factor ISO ClinVar Annotator: match by term: LNPK-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30032983 NCBI chr 3:79,826,318...79,894,514
Ensembl chr 3:79,832,753...79,894,403 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hectd4 HECT domain E3 ubiquitin protein ligase 4 ISO ClinVar Annotator: match by term: HECTD4-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum OMIM
ClinVar		 PMID:25741868 PMID:36401616 NCBI chr12:40,800,232...40,991,584
Ensembl chr12:40,843,770...40,991,798 		JBrowse link
Partial Agenesis of Corpus Callosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcc DCC netrin 1 receptor ISO ClinVar Annotator: match by term: Partial agenesis of the corpus callosum ClinVar PMID:25741868 NCBI chr18:67,144,272...68,248,159
Ensembl chr18:67,149,179...68,247,541 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO ClinVar Annotator: match by term: Partial agenesis of the corpus callosum ClinVar NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:7,687,846...7,697,901 		JBrowse link
G Taf8 TATA-box binding protein associated factor 8 ISO ClinVar Annotator: match by term: Partial agenesis of corpus callosum ClinVar PMID:25741868 PMID:29648665 PMID:35759269 NCBI chr 9:20,989,554...21,009,541
Ensembl chr 9:20,989,465...21,009,983 		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 CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr  X:156,748,597...156,775,116
Ensembl chr  X:156,748,597...156,775,077 		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 		ClinVar Annotator: match by term: SLC1A4-related condition | ClinVar Annotator: match by term: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly
OMIM:616657 		OMIM
ClinVar
MouseDO		 PMID:2837306 PMID:25741868 PMID:25930971 PMID:26041762 PMID:26138499 More... NCBI chr14:98,718,646...98,761,672
Ensembl chr14:98,730,450...98,761,790 		JBrowse link
Temtamy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acrbp acrosin binding protein ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,537,395...159,550,454
Ensembl chr 4:159,537,391...159,550,454 		JBrowse link
G Acsm4 acyl-CoA synthetase medium-chain family member 4 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 1:183,485,259...183,509,712
Ensembl chr 1:183,485,259...183,509,712 		JBrowse link
G Aicda activation-induced cytidine deaminase ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,446,120...157,455,958
Ensembl chr 4:157,444,697...157,456,356 		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 4:157,472,879...157,500,496
Ensembl chr 4:157,472,868...157,498,909 		JBrowse link
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,240,573...159,254,378
Ensembl chr 4:159,237,562...159,254,418 		JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,099,013...159,109,770
Ensembl chr 4:159,098,918...159,109,714 		JBrowse link
G C1rl complement C1r subcomponent like ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,080,495...159,097,066
Ensembl chr 4:159,080,495...159,097,066 		JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,116,549...159,128,736
Ensembl chr 4:159,116,549...159,128,736 		JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,747,419...157,756,609
Ensembl chr 4:157,746,089...157,776,323 		JBrowse link
G Cd163 CD163 molecule ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:158,770,751...158,804,146
Ensembl chr 4:158,770,749...158,804,146 		JBrowse link
G Cd27 CD27 molecule ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,716,932...159,721,823
Ensembl chr 4:159,716,935...159,721,823 		JBrowse link
G Cd4 Cd4 molecule ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,355,147...159,381,636
Ensembl chr 4:159,356,337...159,381,461 		JBrowse link
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,321,203...159,325,072
Ensembl chr 4:159,321,014...159,325,068 		JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,584,623...159,617,867
Ensembl chr 4:159,584,654...159,617,866 		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 4:157,845,811...157,857,926
Ensembl chr 4:157,845,752...157,858,273 		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 4:157,885,899...157,896,728
Ensembl chr 4:157,885,895...157,896,727 		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 4:158,148,434...158,171,933
Ensembl chr 4:158,148,314...158,172,249 		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 4:158,275,287...158,286,978
Ensembl chr 4:158,275,341...158,287,055 		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 4:158,292,624...158,298,607
Ensembl chr 4:158,293,311...158,298,467 		JBrowse link
G Clec6a-ps1 C-type lectin domain family 6, member A, pseudogene 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:158,225,100...158,244,722
Ensembl chr 4:158,225,099...158,244,295 		JBrowse link
G Clstn3 calsyntenin 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,017,795...159,051,069
Ensembl chr 4:159,017,795...159,051,069 		JBrowse link
G Cops7a COP9 signalosome subunit 7A ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,452,878...159,478,878
Ensembl chr 4:159,452,897...159,460,315 		JBrowse link
G Dppa3 developmental pluripotency-associated 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,523,426...157,526,810
Ensembl chr 5:93,143,318...93,144,472
Ensembl chr 4:93,143,318...93,144,472 		JBrowse link
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,195,545...159,203,826
Ensembl chr 4:159,195,564...159,203,826 		JBrowse link
G Eno2 enolase 2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,258,371...159,267,220
Ensembl chr 4:159,258,371...159,267,220 		JBrowse link
G Fam90a1a family with sequence similarity 90 member A1A ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr16:76,801,218...76,808,469 JBrowse link
G Foxj2 forkhead box J2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,718,990...157,745,468
Ensembl chr 4:157,718,992...157,745,450 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,648,592...159,653,436
Ensembl chr 4:159,648,592...159,653,377 		JBrowse link
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,503,547...157,507,923
Ensembl chr 4:157,502,884...157,507,907 		JBrowse link
G Gnb3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,325,741...159,331,443
Ensembl chr 4:159,325,742...159,331,445 		JBrowse link
G Gpr162 G protein-coupled receptor 162 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,348,465...159,354,577
Ensembl chr 4:159,348,303...159,354,390 		JBrowse link
G Grcc10 gene rich cluster, C10 gene ISO ClinVar Annotator: match by term: C12orf57-related condition | ClinVar Annotator: match by term: Temtamy syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21937992 PMID:23453665 More... NCBI chr 4:159,237,562...159,239,223 JBrowse link
G Iffo1 intermediate filament family orphan 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,631,309...159,648,531
Ensembl chr 4:159,630,763...159,648,527 		JBrowse link
G Ing4 inhibitor of growth family, member 4 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,528,183...159,536,762
Ensembl chr 4:159,528,189...159,536,761 		JBrowse link
G Lag3 lymphocyte activating 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,398,930...159,407,001
Ensembl chr 4:159,398,932...159,406,669 		JBrowse link
G Lpar5 lysophosphatidic acid receptor 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,556,735...159,570,216
Ensembl chr 4:159,554,805...159,571,894 		JBrowse link
G Lpcat3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,154,690...159,196,176
Ensembl chr 4:159,154,158...159,196,358 		JBrowse link
G Lrrc23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,267,572...159,277,764
Ensembl chr 4:159,267,574...159,277,794 		JBrowse link
G Ltbr lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,795,115...159,801,571
Ensembl chr 4:159,795,115...159,807,296 		JBrowse link
G Mfap5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,399,919...157,422,448
Ensembl chr 4:157,395,597...157,422,448 		JBrowse link
G Mir141 microRNA 141 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,209,525...159,209,618 JBrowse link
G Mir200c microRNA 200c ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,209,965...159,210,033 JBrowse link
G Mlf2 myeloid leukemia factor 2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,425,542...159,430,584
Ensembl chr 4:159,411,732...159,430,571 		JBrowse link
G Mrpl51 mitochondrial ribosomal protein L51 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,677,988...159,681,650
Ensembl chr 4:159,677,827...159,681,641 		JBrowse link
G Nanog Nanog homeobox ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,615,687...157,623,061
Ensembl chr 4:157,615,687...157,623,061 		JBrowse link
G Ncapd2 non-SMC condensin I complex, subunit D2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,655,051...159,677,938
Ensembl chr 4:159,655,051...159,677,938 		JBrowse link
G Necap1 NECAP endocytosis associated 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,775,890...157,790,992
Ensembl chr 4:157,775,896...157,790,984 		JBrowse link
G Nop2 NOP2 nucleolar protein ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,618,894...159,630,697
Ensembl chr 4:159,618,966...159,630,697 		JBrowse link
G P3h3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,332,514...159,348,428
Ensembl chr 4:159,332,434...159,348,004 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:158,956,973...158,983,581
Ensembl chr 4:158,956,974...158,982,733 		JBrowse link
G Phb2 prohibitin 2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,203,948...159,208,561
Ensembl chr 4:159,203,926...159,209,231 		JBrowse link
G Pianp PILR alpha associated neural protein ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,482,678...159,491,085
Ensembl chr 4:159,482,648...159,491,083 		JBrowse link
G Ptms parathymosin ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,408,647...159,412,837
Ensembl chr 4:159,408,649...159,415,212 		JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,212,320...159,237,069
Ensembl chr 4:159,212,320...159,237,069 		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 4:157,336,950...157,396,970
Ensembl chr 4:157,344,414...157,378,727 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,809,187...159,832,409
Ensembl chr 4:159,809,170...159,832,405 		JBrowse link
G Slc2a3 solute carrier family 2 member 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:157,632,887...157,698,034
Ensembl chr 4:157,632,887...157,646,186 		JBrowse link
G Spsb2 splA/ryanodine receptor domain and SOCS box containing 2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,298,362...159,301,568
Ensembl chr 4:159,299,159...159,309,021 		JBrowse link
G Tapbpl TAP binding protein-like ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,707,686...159,715,137
Ensembl chr 4:159,708,511...159,715,137 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:159,837,032...159,849,816 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,301,558...159,305,088
Ensembl chr 4:159,301,562...159,305,413 		JBrowse link
G Usp5 ubiquitin specific peptidase 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,305,927...159,321,345
Ensembl chr 4:159,305,938...159,320,956 		JBrowse link
G Vamp1 vesicle-associated membrane protein 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,698,894...159,705,582
Ensembl chr 4:159,698,629...159,713,608 		JBrowse link
G Zfp384 zinc finger protein 384 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 4:159,496,481...159,526,010
Ensembl chr 4:159,496,729...159,526,010 		JBrowse link
Vici syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ark2c arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:73,259,736...73,375,987
Ensembl chr18:73,264,901...73,375,987 		JBrowse link
G Ark2n arkadia (RNF111) N-terminal like PKA signaling regulator 2N ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:73,431,104...73,520,759
Ensembl chr18:73,431,104...73,518,144 		JBrowse link
G Atp5f1a ATP synthase F1 subunit alpha ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:73,567,537...73,575,473
Ensembl chr18:73,567,526...73,575,922 		JBrowse link
G Epg5 ectopic P-granules 5 autophagy tethering factor ISO ClinVar Annotator: match by term: EPG5-related condition | ClinVar Annotator: match by term: Vici syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3344762 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 More... NCBI chr18:73,679,106...73,776,694
Ensembl chr18:73,679,116...73,776,677 		JBrowse link
G Haus1 HAUS augmin-like complex, subunit 1 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:73,550,549...73,561,757
Ensembl chr18:73,548,669...73,565,761 		JBrowse link
G Hdhd2 haloacid dehalogenase-like hydrolase domain containing 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:72,763,313...72,801,679
Ensembl chr18:72,749,976...72,801,679 		JBrowse link
G Ier3ip1-ps1 immediate early response 3 interacting protein 1, pseudogene 1 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr 4:133,898,662...133,899,156
Ensembl chr 4:133,887,903...133,898,847 		JBrowse link
G Katnal2 katanin catalytic subunit A1 like 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:72,806,967...72,883,091
Ensembl chr18:72,806,900...72,883,256 		JBrowse link
G Loxhd1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:73,093,142...73,245,784
Ensembl chr18:73,093,142...73,245,784 		JBrowse link
G Pias2 protein inhibitor of activated STAT, 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:72,883,008...72,989,486
Ensembl chr18:72,882,890...73,006,662 		JBrowse link
G Pstpip2 proline-serine-threonine phosphatase-interacting protein 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:73,585,729...73,671,868
Ensembl chr18:73,585,993...73,671,871 		JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:74,465,616...74,827,455
Ensembl chr18:74,465,616...74,827,455 		JBrowse link
G Siglec15 sialic acid binding Ig-like lectin 15 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:73,781,536...73,797,014
Ensembl chr18:73,781,536...73,797,014 		JBrowse link
G Skor2 SKI family transcriptional corepressor 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:72,679,449...72,721,117
Ensembl chr18:72,677,215...72,715,350 		JBrowse link
G Slc14a1 solute carrier family 14 member 1 (Kidd blood group) ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:73,840,568...73,883,925
Ensembl chr18:73,840,569...73,870,489 		JBrowse link
G Slc14a2 solute carrier family 14 member 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 Ensembl chr18:73,887,575...73,953,570 JBrowse link
G Smad2 SMAD family member 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:72,124,792...72,193,345
Ensembl chr18:72,124,863...72,187,388 		JBrowse link
G St8sia5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:73,010,235...73,072,984
Ensembl chr18:73,011,383...73,072,991 		JBrowse link
X-linked Microhydranencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpkow G patch domain and KOW motifs ISO ClinVar Annotator: match by term: Holoprosencephaly-hypokinesia-congenital contractures syndrome ClinVar NCBI chr  X:17,463,521...17,478,298
Ensembl chr  X:17,463,525...17,478,298 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Pathological Conditions, Signs and Symptoms 13667
      Anatomical Pathological Conditions 2873
        Agenesis of Corpus Callosum 383
          Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 0
          Aicardi syndrome 1
          Ben Ari Shuper Mimouni Syndrome 0
          Braddock Carey Syndrome + 1
          CAMFAK Syndrome 0
          CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA 2
          Calloso-Genital Dysplasia 0
          Chudley-Mccullough syndrome 3
          Curatolo Cilio Pessagno Syndrome 0
          Donnai-Barrow syndrome 2
          Duker Weiss Siber syndrome 0
          FG syndrome + 14
          Faye-Petersen Ward Carey Syndrome 0
          GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES 2
          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 2
          NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM 1
          Partial Agenesis of Corpus Callosum + 4
          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, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 0
          Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 0
          Temtamy syndrome 64
          Vici syndrome 18
          acrocallosal syndrome + 5
          agenesis of corpus callosum, cardiac, ocular, and genital syndrome 1
          agenesis of the corpus callosum with peripheral neuropathy 5
          combined oxidative phosphorylation deficiency 2 1
          corpus callosum agenesis-abnormal genitalia syndrome 2
          corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 1
          hereditary spastic paraplegia 11 11
          holoprosencephaly + 223
          neurodevelopmental disorder with dysmorphic facies and thin corpus callosum 1
          spastic tetraplegia, thin corpus callosum, and progressive microcephaly 1
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        Congenital Abnormalities 7954
          Nervous System Malformations 2471
            Agenesis of Corpus Callosum 383
              Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 0
              Aicardi syndrome 1
              Ben Ari Shuper Mimouni Syndrome 0
              Braddock Carey Syndrome + 1
              CAMFAK Syndrome 0
              CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA 2
              Calloso-Genital Dysplasia 0
              Chudley-Mccullough syndrome 3
              Curatolo Cilio Pessagno Syndrome 0
              Donnai-Barrow syndrome 2
              Duker Weiss Siber syndrome 0
              FG syndrome + 14
              Faye-Petersen Ward Carey Syndrome 0
              GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES 2
              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 2
              NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM 1
              Partial Agenesis of Corpus Callosum + 4
              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, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 0
              Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 0
              Temtamy syndrome 64
              Vici syndrome 18
              acrocallosal syndrome + 5
              agenesis of corpus callosum, cardiac, ocular, and genital syndrome 1
              agenesis of the corpus callosum with peripheral neuropathy 5
              combined oxidative phosphorylation deficiency 2 1
              corpus callosum agenesis-abnormal genitalia syndrome 2
              corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 1
              hereditary spastic paraplegia 11 11
              holoprosencephaly + 223
              neurodevelopmental disorder with dysmorphic facies and thin corpus callosum 1
              spastic tetraplegia, thin corpus callosum, and progressive microcephaly 1
paths to the root