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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

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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 chrNW_004624790:4,822,467...4,854,852
Ensembl chrNW_004624790:4,832,494...4,854,845 		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 chrNW_004624785:970,169...1,417,847
Ensembl chrNW_004624785:973,003...1,417,853 		JBrowse link
G Armc9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624843:4,483,974...4,588,546
Ensembl chrNW_004624843:4,486,762...4,573,553 		JBrowse link
G Arx aristaless related homeobox ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:25741868 NCBI chrNW_004624897:1,279,138...1,303,210 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 chrNW_004624740:10,339,411...11,463,292
Ensembl chrNW_004624740:10,341,274...10,367,075 		JBrowse link
G Bcl11a BCL11 transcription factor A ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:31474318 NCBI chrNW_004624833:1,367,878...1,468,257
Ensembl chrNW_004624833:1,367,781...1,468,400 		JBrowse link
G Borcs5 BLOC-1 related complex subunit 5 ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:27435318 NCBI chrNW_004624752:25,418,206...25,504,658
Ensembl chrNW_004624752:25,382,796...25,504,989 		JBrowse link
G C2cd3 C2 domain containing 3 centriole elongation regulator ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624817:2,880,775...3,060,399
Ensembl chrNW_004624817:2,880,976...3,042,004 		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 chrNW_004624770:4,333,643...4,540,817
Ensembl chrNW_004624770:4,334,202...4,545,470 		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 chrNW_004624793:2,325,104...2,426,814
Ensembl chrNW_004624793:2,325,128...2,426,817 		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 chrNW_004624824:1,516,481...1,655,364
Ensembl chrNW_004624824:1,517,966...1,655,329 		JBrowse link
G Dcc DCC netrin 1 receptor ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:24808016 PMID:25741868 PMID:25763452 PMID:28250454 PMID:29366874 More... NCBI chrNW_004624778:15,979,350...17,225,263
Ensembl chrNW_004624778:15,979,467...17,222,039 		JBrowse link
G Dhx16 DEAH-box helicase 16 ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:31256877 NCBI chrNW_004624754:25,040,684...25,054,632
Ensembl chrNW_004624754:25,040,711...25,057,856 		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 chrNW_004624907:2,249,323...2,263,999
Ensembl chrNW_004624907:2,250,133...2,263,947 		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 chrNW_004624928:458,651...532,201
Ensembl chrNW_004624928:463,279...530,115 		JBrowse link
G Fzd3 frizzled class receptor 3 ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:31474318 NCBI chrNW_004624758:23,147,512...23,240,711
Ensembl chrNW_004624758:23,147,452...23,230,879 		JBrowse link
G Kif4a kinesin family member 4A ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:31474318 NCBI chrNW_004624903:261,084...386,670 JBrowse link
G LOC101715424 tubulin alpha-1B chain-like ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:20466733 PMID:25741868 PMID:28492532 PMID:30744660 PMID:31474318 More... NCBI chrNW_004624816:3,001,252...3,006,166 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 chrNW_004624903:1,412,346...1,436,474
Ensembl chrNW_004624903:1,412,474...1,436,474 		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 chrNW_004624730:56,895,065...56,970,563
Ensembl chrNW_004624730:56,938,215...56,966,137 		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 chrNW_004624730:74,187,981...74,277,857
Ensembl chrNW_004624730:74,187,995...74,277,200 		JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27399968 NCBI chrNW_004624894:300,027...388,397
Ensembl chrNW_004624894:301,082...362,683 		JBrowse link
G Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:31474318 NCBI chrNW_004624980:310,630...407,364
Ensembl chrNW_004624980:310,426...406,972 		JBrowse link
G Yars1 tyrosyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:29232904 NCBI chrNW_004624764:15,898,648...15,933,386
Ensembl chrNW_004624764:15,898,646...15,933,400 		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 chrNW_004624783:5,859,800...5,906,496
Ensembl chrNW_004624783:5,859,739...5,905,196 		JBrowse link
G Foxg1 forkhead box G1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18627055 NCBI chrNW_004624820:3,542,767...3,547,180
Ensembl chrNW_004624820:3,543,687...3,545,147 		JBrowse link
G Kif7 kinesin family member 7 ISO 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
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19666503 More... NCBI chrNW_004624768:16,674,485...16,732,698
Ensembl chrNW_004624768:16,718,978...16,730,707 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO ClinVar Annotator: match by term: Acrocallosal syndrome ClinVar PMID:25741868 PMID:29321670 NCBI chrNW_004624800:2,202,986...2,215,309
Ensembl chrNW_004624800:2,203,393...2,212,068 		JBrowse link
G Ticrr TOPBP1 interacting checkpoint and replication regulator ISO ClinVar Annotator: match by term: Acrocallosal syndrome ClinVar NCBI chrNW_004624768:16,669,847...16,716,335
Ensembl chrNW_004624768:16,670,390...16,715,697 		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 chrNW_004624770:4,333,643...4,540,817
Ensembl chrNW_004624770:4,334,202...4,545,470 		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: Agenesis of the corpus callosum with peripheral neuropathy ClinVar PMID:15829536 PMID:22047666 PMID:25741868 PMID:27535533 PMID:28492532 NCBI chrNW_004624731:4,836,109...5,190,990
Ensembl chrNW_004624731:5,029,421...5,190,996 		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 chrNW_004624781:4,866,896...4,879,321
Ensembl chrNW_004624781:4,866,927...4,879,321 		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 chrNW_004624804:105,795...111,249
Ensembl chrNW_004624804:105,791...111,253 		JBrowse link
G Nop10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy ClinVar PMID:25741868 NCBI chrNW_004624825:4,125,455...4,126,229
Ensembl chrNW_004624825:4,125,455...4,126,188 		JBrowse link
G Slc12a6 solute carrier family 12 member 6 ISO ClinVar Annotator: match by term: Agenesis of corpus callosum with peripheral neuropathy | ClinVar Annotator: match by term: Agenesis of corpus callosum with polyneuropathy | ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy OMIM
ClinVar		 PMID:1660691 PMID:9536098 PMID:12368912 PMID:12838516 PMID:16199547 More... NCBI chrNW_004624804:31,489...105,944
Ensembl chrNW_004624804:31,495...105,949 		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 ISO OMIM:202650 MouseDO NCBI chrNW_004624735:12,384,728...12,388,234
Ensembl chrNW_004624735:12,386,281...12,387,774 		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 OMIM
ClinVar		 PMID:12244557 PMID:21294718 PMID:22211708 PMID:22674740 PMID:23444262 More... NCBI chrNW_004624826:8,361,039...8,435,488
Ensembl chrNW_004624826:8,361,033...8,435,656 		JBrowse link
G Trappc10 trafficking protein particle complex subunit 10 ISO OMIM:202650 MouseDO NCBI chrNW_004624745:29,959,237...30,031,074
Ensembl chrNW_004624745:29,961,054...30,031,113 		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 chrNW_004624897:1,279,138...1,303,210 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 chrNW_004624730:75,644,242...75,707,159
Ensembl chrNW_004624730:75,644,163...75,707,043 		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 ISO OMIM:612530 MouseDO NCBI chrNW_004624835:5,744,973...5,790,840
Ensembl chrNW_004624835:5,744,543...5,790,603 		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 chrNW_004624772:4,705,198...4,744,052
Ensembl chrNW_004624772:4,705,198...4,744,252 		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, bilateral sensorineural, and hydrocephalus due to foramen of monro obstruction | ClinVar Annotator: match by term: GPSM2-Related Disorders OMIM
ClinVar		 PMID:9536098 PMID:10449658 PMID:17576681 PMID:20602914 PMID:21348867 More... NCBI chrNW_004624772:4,634,005...4,704,280
Ensembl chrNW_004624772:4,651,326...4,704,280 		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 chrNW_004624734:36,151,701...36,272,058
Ensembl chrNW_004624734:36,202,011...36,270,942 		JBrowse link
combined oxidative phosphorylation deficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps16 mitochondrial ribosomal protein S16 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 2 | ClinVar Annotator: match by term: MRPS16-related condition OMIM
ClinVar		 PMID:15505824 PMID:18539099 PMID:25741868 PMID:28492532 PMID:28749478 NCBI chrNW_004624754:6,920,729...6,922,388
Ensembl chrNW_004624754:6,920,731...6,922,391 		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 ClinVar Annotator: match by term: Corpus callosum agenesis-abnormal genitalia syndrome OMIM
ClinVar		 PMID:1605226 PMID:14722918 PMID:18414213 PMID:22252899 PMID:25741868 More... NCBI chrNW_004624897:1,279,138...1,303,210 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 chrNW_004624786:4,729,857...4,969,708
Ensembl chrNW_004624786:4,726,676...4,969,646 		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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chrNW_004624903:71,212...94,470 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 chrNW_004624805:1,072,327...1,593,563
Ensembl chrNW_004624805:1,073,132...1,590,661 		JBrowse link
G Prpf18 pre-mRNA processing factor 18 ISO ClinVar Annotator: match by term: FRMD4A-related condition ClinVar PMID:28492532 NCBI chrNW_004624805:1,593,697...1,635,987
Ensembl chrNW_004624805:1,602,782...1,637,099 		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 chrNW_004624753:27,283,570...27,423,118
Ensembl chrNW_004624753:27,283,871...27,375,897 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO ClinVar Annotator: match by term: DBS/FOAR SYNDROME | ClinVar Annotator: match by term: Diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria | ClinVar Annotator: match by term: Donnai-Barrow syndrome | ClinVar Annotator: match by term: LRP2-related condition OMIM
ClinVar		 PMID:8266995 PMID:9475100 PMID:9536098 PMID:12923867 PMID:16199547 More... NCBI chrNW_004624787:6,797,462...6,998,859
Ensembl chrNW_004624787:6,798,938...6,998,697 		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 ClinVar Annotator: match by term: FG syndrome ClinVar PMID:25741868 NCBI chrNW_004624762:13,723,347...14,106,844
Ensembl chrNW_004624762:13,722,691...14,106,844 		JBrowse link
G Flna filamin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632775 NCBI chrNW_004624946:812,278...836,307
Ensembl chrNW_004624946:812,287...837,273 		JBrowse link
G Med12 mediator complex subunit 12 ISO 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 ClinVar PMID:6711603 PMID:8279489 PMID:9536098 PMID:10405444 PMID:10982179 More... NCBI chrNW_004624903:1,412,346...1,436,474
Ensembl chrNW_004624903:1,412,474...1,436,474 		JBrowse link
FG Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNHXorf65 chromosome unknown CXorf65 homolog ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624903:1,400,238...1,402,502 JBrowse link
G Foxo4 forkhead box O4 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624903:1,390,899...1,399,745
Ensembl chrNW_004624903:1,391,910...1,399,949 		JBrowse link
G Gjb1 gap junction protein beta 1 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624903:1,511,347...1,519,265
Ensembl chrNW_004624903:1,517,324...1,519,265 		JBrowse link
G Il2rg interleukin 2 receptor subunit gamma ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624903:1,402,586...1,406,554
Ensembl chrNW_004624903:1,402,481...1,406,600 		JBrowse link
G Itgb1bp2 integrin subunit beta 1 binding protein 2 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624903:1,583,796...1,588,778
Ensembl chrNW_004624903:1,584,519...1,588,617 		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 chrNW_004624903:1,412,346...1,436,474
Ensembl chrNW_004624903:1,412,474...1,436,474 		JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624903:1,437,663...1,465,955
Ensembl chrNW_004624903:1,438,428...1,463,172 		JBrowse link
G Nono non-POU domain containing octamer binding ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624903:1,562,818...1,583,648
Ensembl chrNW_004624903:1,562,743...1,586,985 		JBrowse link
G Slc7a3 solute carrier family 7 member 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624903:1,100,518...1,106,993
Ensembl chrNW_004624903:1,100,424...1,107,087 		JBrowse link
G Snx12 sorting nexin 12 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624903:1,357,298...1,366,849
Ensembl chrNW_004624903:1,118,965...1,367,179 		JBrowse link
G Taf1 TATA-box binding protein associated factor 1 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624903:1,698,201...1,774,607 JBrowse link
G Zmym3 zinc finger MYM-type containing 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624903:1,532,324...1,548,784 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 chrNW_004624946:812,278...836,307
Ensembl chrNW_004624946:812,287...837,273 		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 chrNW_004624762:13,723,347...14,106,844
Ensembl chrNW_004624762:13,722,691...14,106,844 		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 chrNW_004624752:7,039,781...7,047,069
Ensembl chrNW_004624752:7,039,789...7,047,069 		JBrowse link
G Znf148 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 chrNW_004624731:1,271,478...1,410,047
Ensembl chrNW_004624731:1,278,242...1,354,063 		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 chrNW_004624804:11,514,728...11,521,625 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 chrNW_004624795:1,186,043...1,238,986
Ensembl chrNW_004624795:1,188,136...1,241,964 		JBrowse link
G Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chrNW_004624928:357,812...401,668
Ensembl chrNW_004624928:360,704...399,714 		JBrowse link
G Eif3j eukaryotic translation initiation factor 3 subunit J ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar NCBI chrNW_004624804:11,670,983...11,694,269 JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chrNW_004624731:14,459,164...14,502,485
Ensembl chrNW_004624731:14,459,303...14,500,429 		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 chrNW_004624804:11,545,393...11,572,800 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 chrNW_004624787:3,767,405...3,939,065
Ensembl chrNW_004624787:3,768,120...3,908,889 		JBrowse link
G Slc25a13 solute carrier family 25 member 13 ISO ClinVar Annotator: match by term: SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, WITH MENTAL IMPAIRMENT AND THIN CORPUS CALLOSUM ClinVar PMID:21507300 PMID:23053473 PMID:24069319 PMID:25741868 PMID:28492532 NCBI chrNW_004624813:2,851,620...3,019,593
Ensembl chrNW_004624813:2,852,585...2,998,651 		JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO 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
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		 PMID:2223744 PMID:2795747 PMID:3283541 PMID:9536098 PMID:16199547 More... NCBI chrNW_004624804:11,569,024...11,672,037
Ensembl chrNW_004624804:11,569,150...11,670,373 		JBrowse link
G Tbr1 T-box brain transcription factor 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chrNW_004624732:4,043,867...4,052,621
Ensembl chrNW_004624732:4,043,867...4,052,551 		JBrowse link
G Trim69 tripartite motif containing 69 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar PMID:28492532 NCBI chrNW_004624731:14,228,511...14,253,128
Ensembl chrNW_004624731:14,224,366...14,252,976 		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 chrNW_004624735:12,457,860...12,473,801
Ensembl chrNW_004624735:12,457,934...12,473,701 		JBrowse link
G Boc BOC cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28677295 NCBI chrNW_004624731:35,256,658...35,330,274
Ensembl chrNW_004624731:35,256,662...35,330,266 		JBrowse link
G Bop1 BOP1 ribosomal biogenesis factor ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:12,562,734...12,586,544
Ensembl chrNW_004624735:12,562,997...12,585,971 		JBrowse link
G Ccdc166 coiled-coil domain containing 166 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:13,076,022...13,078,615
Ensembl chrNW_004624735:13,077,319...13,078,774 		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 chrNW_004624812:107,632...203,791
Ensembl chrNW_004624812:109,405...203,519 		JBrowse link
G Clybl citramalyl-CoA lyase ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chrNW_004624793:11,240,495...11,479,386
Ensembl chrNW_004624793:11,237,097...11,480,113 		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 chrNW_004624746:27,659,424...27,757,024
Ensembl chrNW_004624746:27,676,325...27,756,754 		JBrowse link
G Cpsf1 cleavage and polyadenylation specific factor 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:12,444,371...12,457,864
Ensembl chrNW_004624735:12,444,386...12,457,864 		JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO protein:increased localization: prechordal mesoderm, nucleus RGD PMID:18338389 RGD:12801437 NCBI chrNW_004624765:8,374,160...8,436,969 JBrowse link
G Cripto cripto, EGF-CFC family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:12073012 NCBI chrNW_004624730:74,547,226...74,550,526 JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:12,525,120...12,535,436
Ensembl chrNW_004624735:12,525,284...12,535,193 		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 chrNW_004624835:5,316,620...5,468,179
Ensembl chrNW_004624835:5,316,585...5,468,156 		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 chrNW_004624850:6,135,214...6,142,975
Ensembl chrNW_004624850:6,134,908...6,143,404 		JBrowse link
G Eef1d eukaryotic translation elongation factor 1 delta ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:13,148,640...13,165,259
Ensembl chrNW_004624735:13,154,327...13,173,477 		JBrowse link
G Exosc4 exosome component 4 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:12,744,266...12,746,253
Ensembl chrNW_004624735:12,744,266...12,746,289 		JBrowse link
G Fam83h family with sequence similarity 83 member H ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:13,035,896...13,048,658
Ensembl chrNW_004624735:13,042,060...13,048,658 		JBrowse link
G Fbxl6 F-box and leucine rich repeat protein 6 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:12,491,155...12,494,152
Ensembl chrNW_004624735:12,491,174...12,494,059 		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 chrNW_004624831:1,251,991...1,259,247
Ensembl chrNW_004624831:1,253,044...1,257,741 		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 chrNW_004624780:5,161,245...5,212,641
Ensembl chrNW_004624780:5,161,073...5,213,870 		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 chrNW_004624735:12,384,728...12,388,234
Ensembl chrNW_004624735:12,386,281...12,387,774 		JBrowse link
G Gas1 growth arrest specific 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17525797 NCBI chrNW_004624809:10,414,935...10,417,838
Ensembl chrNW_004624809:10,415,592...10,416,596 		JBrowse link
G Gfus GDP-L-fucose synthase ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:13,129,572...13,134,285
Ensembl chrNW_004624735:13,129,564...13,134,009 		JBrowse link
G Ggact gamma-glutamylamine cyclotransferase ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chrNW_004624793:10,655,447...10,691,334
Ensembl chrNW_004624793:10,677,662...10,690,034 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Microform holoprosencephaly ClinVar PMID:25741868 NCBI chrNW_004624732:24,159,407...24,381,495
Ensembl chrNW_004624732:24,159,312...24,328,452 		JBrowse link
G Gli4 GLI family zinc finger 4 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:13,459,082...13,469,288
Ensembl chrNW_004624735:13,455,746...13,464,627 		JBrowse link
G Gml glycosylphosphatidylinositol anchored molecule like ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:13,737,122...13,749,775 JBrowse link
G Gpaa1 glycosylphosphatidylinositol anchor attachment 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:12,739,750...12,743,219
Ensembl chrNW_004624735:12,739,750...12,743,223 		JBrowse link
G Gpihbp1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:13,486,368...13,492,668
Ensembl chrNW_004624735:13,484,772...13,491,570 		JBrowse link
G Gpr18 G protein-coupled receptor 18 ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chrNW_004624793:11,781,250...11,785,952 JBrowse link
G Gpt glutamic--pyruvic transaminase ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:12,355,476...12,359,910
Ensembl chrNW_004624735:12,355,476...12,360,028 		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 chrNW_004624735:12,820,678...12,823,920
Ensembl chrNW_004624735:12,821,243...12,822,787 		JBrowse link
G Gsdmd gasdermin D ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:13,187,810...13,192,843
Ensembl chrNW_004624735:13,187,687...13,192,736 		JBrowse link
G Hgh1 HGH1 homolog ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:12,682,233...12,685,190
Ensembl chrNW_004624735:12,681,806...12,685,805 		JBrowse link
G Hsf1 heat shock transcription factor 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:12,536,818...12,562,643
Ensembl chrNW_004624735:12,537,128...12,562,644 		JBrowse link
G Kifc2 kinesin family member C2 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624735:12,387,891...12,394,526
Ensembl chrNW_004624735:12,388,632...12,394,434 		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 chrNW_004624741:28,156,956...28,217,133
Ensembl chrNW_004624741:28,157,172...28,217,113 		JBrowse link
G LOC101700701 cytochrome P450 11B1, mitochondrial ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:13,701,382...13,708,750 JBrowse link
G LOC101700825 cytochrome c1, heme protein, mitochondrial ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:12,724,670...12,727,035
Ensembl chrNW_004624735:12,724,670...12,727,120 		JBrowse link
G Ly6d lymphocyte antigen 6 family member D ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:13,871,505...13,873,045 JBrowse link
G Ly6e lymphocyte antigen 6 family member E ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:13,616,129...13,619,538 JBrowse link
G Ly6h lymphocyte antigen 6 family member H ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:13,544,842...13,547,519
Ensembl chrNW_004624735:13,544,831...13,549,285 		JBrowse link
G Maf1 MAF1 homolog, negative regulator of RNA polymerase III ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:12,715,888...12,719,058
Ensembl chrNW_004624735:12,714,959...12,718,361 		JBrowse link
G Mafa MAF bZIP transcription factor A ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:13,327,857...13,330,079
Ensembl chrNW_004624735:13,327,889...13,328,962 		JBrowse link
G Mapk15 mitogen-activated protein kinase 15 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:13,049,509...13,077,509
Ensembl chrNW_004624735:13,047,125...13,056,308 		JBrowse link
G Matn4 matrilin 4 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:25558065 NCBI chrNW_004624790:9,182,374...9,194,235
Ensembl chrNW_004624790:9,182,847...9,194,384 		JBrowse link
G Mfsd3 major facilitator superfamily domain containing 3 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:12,351,770...12,355,271
Ensembl chrNW_004624735:12,351,770...12,355,149 		JBrowse link
G Mroh1 maestro heat like repeat family member 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:12,586,095...12,673,910
Ensembl chrNW_004624735:12,586,095...12,673,896 		JBrowse link
G Mroh6 maestro heat like repeat family member 6 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:13,176,828...13,185,174
Ensembl chrNW_004624735:13,177,934...13,184,226 		JBrowse link
G Nodal nodal growth differentiation factor ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:19064609 PMID:19553149 PMID:22352765 PMID:24033266 PMID:25741868 More... NCBI chrNW_004624754:4,557,407...4,564,580
Ensembl chrNW_004624754:4,557,952...4,564,644 		JBrowse link
G Nosip nitric oxide synthase interacting protein ISO MouseDO NCBI chrNW_004624832:4,674,778...4,691,084
Ensembl chrNW_004624832:4,674,724...4,693,258 		JBrowse link
G Nrbp2 nuclear receptor binding protein 2 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:12,972,615...12,982,936
Ensembl chrNW_004624735:12,972,779...12,977,860 		JBrowse link
G Oplah 5-oxoprolinase, ATP-hydrolysing ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:12,743,369...12,776,098
Ensembl chrNW_004624735:12,766,179...12,776,098 		JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chrNW_004624793:10,691,224...11,099,905
Ensembl chrNW_004624793:10,691,224...11,100,853 		JBrowse link
G Pgap1 post-GPI attachment to proteins inositol deacylase 1 ISO MouseDO NCBI chrNW_004624889:3,174,626...3,256,555
Ensembl chrNW_004624889:3,174,739...3,244,315 		JBrowse link
G Pign phosphatidylinositol glycan anchor biosynthesis class N ISO MouseDO NCBI chrNW_004624792:7,713,042...7,916,177
Ensembl chrNW_004624792:7,712,113...7,916,160 		JBrowse link
G Ppp1r16a protein phosphatase 1 regulatory subunit 16A ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:12,360,108...12,384,663
Ensembl chrNW_004624735:12,360,108...12,368,093 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Holoprosencephaly | ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:8302318 PMID:11941477 PMID:17001668 PMID:21188540 PMID:22703879 More... NCBI chrNW_004624753:16,929,503...16,995,255
Ensembl chrNW_004624753:16,935,251...16,995,389 		JBrowse link
G Puf60 poly(U) binding splicing factor 60 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:12,983,106...12,996,578
Ensembl chrNW_004624735:12,983,111...12,996,576 		JBrowse link
G Pycr3 pyrroline-5-carboxylate reductase 3 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:13,136,287...13,142,051 JBrowse link
G Recql4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:12,345,326...12,351,783
Ensembl chrNW_004624735:12,345,844...12,351,637 		JBrowse link
G Rhpn1 rhophilin Rho GTPase binding protein 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:13,369,199...13,380,480
Ensembl chrNW_004624735:13,369,353...13,380,750 		JBrowse link
G Scrib scribble planar cell polarity protein ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:12,997,358...13,018,765
Ensembl chrNW_004624735:12,997,408...13,018,533 		JBrowse link
G Scrt1 scratch family transcriptional repressor 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:12,515,644...12,521,445
Ensembl chrNW_004624735:12,514,164...12,521,433 		JBrowse link
G Scx scleraxis bHLH transcription factor ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:12,579,963...12,583,128
Ensembl chrNW_004624735:12,579,956...12,581,736 		JBrowse link
G Sharpin SHANK associated RH domain interactor ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:12,719,196...12,723,578
Ensembl chrNW_004624735:12,719,762...12,723,348 		JBrowse link
G Shh sonic hedgehog signaling molecule treatment ISO ClinVar Annotator: match by term: Holoprosencephaly sequence RGD
ClinVar		 PMID:18338389 PMID:29584859 RGD:12801437 NCBI chrNW_004624800:2,202,986...2,215,309
Ensembl chrNW_004624800:2,203,393...2,212,068 		JBrowse link
G Six3 SIX homeobox 3 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:10369266 PMID:15523651 RGD:1599335 RGD:1599336 NCBI chrNW_004624738:26,379,172...26,391,669
Ensembl chrNW_004624738:26,380,088...26,394,252 		JBrowse link
G Slc15a1 solute carrier family 15 member 1 ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chrNW_004624793:12,348,356...12,393,909
Ensembl chrNW_004624793:12,348,819...12,394,497 		JBrowse link
G Slc39a4 solute carrier family 39 member 4 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:12,433,024...12,438,406
Ensembl chrNW_004624735:12,434,169...12,438,510 		JBrowse link
G Slc52a2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:12,465,032...12,491,809
Ensembl chrNW_004624735:12,486,016...12,491,331 		JBrowse link
G Slurp1 secreted LY6/PLAUR domain containing 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:13,901,531...13,910,505
Ensembl chrNW_004624735:13,906,840...13,907,920 		JBrowse link
G Spatc1 spermatogenesis and centriole associated 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:12,776,268...12,804,168
Ensembl chrNW_004624735:12,780,233...12,787,571 		JBrowse link
G Stk24 serine/threonine kinase 24 ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chrNW_004624793:12,474,346...12,595,052
Ensembl chrNW_004624793:12,474,373...12,595,062 		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 chrNW_004624831:1,882,114...2,012,341
Ensembl chrNW_004624831:1,882,077...2,012,341 		JBrowse link
G Tgif1 TGFB induced factor homeobox 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624770:13,506,501...13,515,388
Ensembl chrNW_004624770:13,508,409...13,516,457 		JBrowse link
G Tigd5 tigger transposable element derived 5 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:13,143,055...13,148,487
Ensembl chrNW_004624735:13,146,295...13,148,244 		JBrowse link
G Tm9sf2 transmembrane 9 superfamily member 2 ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chrNW_004624793:11,515,047...11,644,073
Ensembl chrNW_004624793:11,511,446...11,579,008 		JBrowse link
G Tmem249 transmembrane protein 249 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:12,494,338...12,496,246 JBrowse link
G Tmtc4 transmembrane O-mannosyltransferase targeting cadherins 4 ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chrNW_004624793:10,587,703...10,640,634
Ensembl chrNW_004624793:10,588,037...10,641,260 		JBrowse link
G Tonsl tonsoku like, DNA repair protein ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:12,413,953...12,426,193 JBrowse link
G Top1mt DNA topoisomerase I mitochondrial ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:13,417,185...13,441,097 JBrowse link
G Twsg1 twisted gastrulation BMP signaling modulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15013800 NCBI chrNW_004624770:18,047,790...18,081,559
Ensembl chrNW_004624770:18,047,810...18,081,761 		JBrowse link
G Ubac2 UBA domain containing 2 ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chrNW_004624793:11,658,268...11,824,632
Ensembl chrNW_004624793:11,657,526...11,824,570 		JBrowse link
G Vps28 VPS28 subunit of ESCRT-I ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:12,426,687...12,430,698
Ensembl chrNW_004624735:12,426,543...12,430,698 		JBrowse link
G Zc3h3 zinc finger CCCH-type containing 3 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:13,230,576...13,320,068
Ensembl chrNW_004624735:13,230,642...13,319,666 		JBrowse link
G Zfp41 ZFP41 zinc finger protein ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:13,467,332...13,482,028
Ensembl chrNW_004624735:13,467,332...13,481,117 		JBrowse link
G Zftraf1 zinc finger TRAF-type containing 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:12,394,710...12,411,520
Ensembl chrNW_004624735:12,394,710...12,408,851 		JBrowse link
G Zic2 Zic family member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar PMID:25741868 NCBI chrNW_004624793:11,162,835...11,167,497
Ensembl chrNW_004624793:11,163,916...11,167,457 		JBrowse link
G Zic5 Zic family member 5 ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chrNW_004624793:11,171,431...11,186,415
Ensembl chrNW_004624793:11,176,946...11,189,003 		JBrowse link
G Znf623 zinc finger protein 623 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chrNW_004624735:13,106,597...13,115,781
Ensembl chrNW_004624735:13,108,835...13,115,715 		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 chrNW_004624829:578,380...605,119
Ensembl chrNW_004624829:578,326...604,594 		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 chrNW_004624812:107,632...203,791
Ensembl chrNW_004624812:109,405...203,519 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:18596921 PMID:21045958 PMID:28492532 NCBI chrNW_004624831:1,251,991...1,259,247
Ensembl chrNW_004624831:1,253,044...1,257,741 		JBrowse link
G Gas1 growth arrest specific 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:20583177 PMID:21842183 NCBI chrNW_004624809:10,414,935...10,417,838
Ensembl chrNW_004624809:10,415,592...10,416,596 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624732:24,159,407...24,381,495
Ensembl chrNW_004624732:24,159,312...24,328,452 		JBrowse link
G Zic2 Zic family member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:22859937 NCBI chrNW_004624793:11,162,835...11,167,497
Ensembl chrNW_004624793:11,163,916...11,167,457 		JBrowse link
Holoprosencephaly 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624732:24,159,407...24,381,495
Ensembl chrNW_004624732:24,159,312...24,328,452 		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 chrNW_004624927:1,645,923...1,653,291 JBrowse link
G Ccdc15 coiled-coil domain containing 15 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004624927:963,083...1,105,668
Ensembl chrNW_004624927:962,958...1,084,156 		JBrowse link
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Holoprosencephaly 11 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20301702 PMID:21802063 More... NCBI chrNW_004624812:107,632...203,791
Ensembl chrNW_004624812:109,405...203,519 		JBrowse link
G Chek1 checkpoint kinase 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004624927:1,609,404...1,643,409
Ensembl chrNW_004624927:1,610,878...1,643,409 		JBrowse link
G Ddx25 DEAD-box helicase 25 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004624812:53,129...74,073
Ensembl chrNW_004624812:52,368...74,149 		JBrowse link
G Ei24 EI24 autophagy associated transmembrane protein ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004624927:1,548,544...1,566,108 JBrowse link
G Fam118b family with sequence similarity 118 member B ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004624812:366,432...416,408
Ensembl chrNW_004624812:366,476...416,408 		JBrowse link
G Fez1 fasciculation and elongation protein zeta 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004624927:1,470,218...1,512,780
Ensembl chrNW_004624927:1,469,025...1,512,790 		JBrowse link
G Foxred1 FAD dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004624812:423,000...429,660
Ensembl chrNW_004624812:423,109...433,466 		JBrowse link
G Hepacam hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004624927:922,272...939,429
Ensembl chrNW_004624927:919,908...939,762 		JBrowse link
G Hyls1 HYLS1 centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004624812:37,055...49,908
Ensembl chrNW_004624812:36,963...51,411 		JBrowse link
G LOC101697622 olfactory receptor 8D4 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004624880:1,280,733...1,281,695
Ensembl chrNW_004624880:1,280,736...1,281,671 		JBrowse link
G LOC101698368 olfactory receptor 6M1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004624880:1,312,378...1,313,325
Ensembl chrNW_004624880:1,312,378...1,313,325 		JBrowse link
G LOC101699115 olfactory receptor 6X1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004624880:1,416,355...1,417,332 JBrowse link
G LOC101700923 olfactory receptor 4D5 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004624880:1,241,384...1,242,328
Ensembl chrNW_004624880:1,241,384...1,242,328 		JBrowse link
G LOC101717337 olfactory receptor 8A1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004624927:566,203...567,135
Ensembl chrNW_004624927:566,206...567,135 		JBrowse link
G Msantd2 Myb/SANT DNA binding domain containing 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004624927:784,325...816,691
Ensembl chrNW_004624927:783,482...817,427 		JBrowse link
G Nrgn neurogranin ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004624927:753,967...762,663
Ensembl chrNW_004624927:753,956...762,662 		JBrowse link
G Panx3 pannexin 3 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004624927:612,686...621,282
Ensembl chrNW_004624927:612,750...620,564 		JBrowse link
G Pknox2 PBX/knotted 1 homeobox 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004624927:1,197,610...1,459,777
Ensembl chrNW_004624927:1,275,956...1,460,170 		JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004624812:41,234...52,962
Ensembl chrNW_004624812:41,652...52,973 		JBrowse link
G Robo3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004624927:872,197...887,316
Ensembl chrNW_004624927:872,197...887,079 		JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004624927:888,421...903,657
Ensembl chrNW_004624927:888,141...903,659 		JBrowse link
G Rpusd4 RNA pseudouridine synthase D4 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004624812:311,912...366,427
Ensembl chrNW_004624812:359,184...366,872 		JBrowse link
G Scn3b sodium voltage-gated channel beta subunit 3 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004624880:1,496,571...1,519,728
Ensembl chrNW_004624880:1,496,634...1,516,684 		JBrowse link
G Siae sialic acid acetylesterase ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004624927:636,134...678,367
Ensembl chrNW_004624927:637,175...678,780 		JBrowse link
G Slc37a2 solute carrier family 37 member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004624927:1,106,050...1,132,050
Ensembl chrNW_004624927:1,106,367...1,131,730 		JBrowse link
G Spa17 sperm autoantigenic protein 17 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004624927:678,390...691,963
Ensembl chrNW_004624927:678,260...691,797 		JBrowse link
G Srpra SRP receptor subunit alpha ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004624812:416,727...422,820
Ensembl chrNW_004624812:416,727...422,823 		JBrowse link
G Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004624927:1,577,504...1,608,328
Ensembl chrNW_004624927:1,577,534...1,606,596 		JBrowse link
G Tbrg1 transforming growth factor beta regulator 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004624927:622,865...632,243
Ensembl chrNW_004624927:623,175...632,243 		JBrowse link
G Tirap TIR domain containing adaptor protein ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004624812:433,540...445,517
Ensembl chrNW_004624812:439,319...446,646 		JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004624927:1,137,223...1,163,880
Ensembl chrNW_004624927:1,136,636...1,163,757 		JBrowse link
G Tmem225 transmembrane protein 225 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004624880:1,287,126...1,295,505 JBrowse link
G Vsig2 V-set and immunoglobulin domain containing 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004624927:762,912...768,914
Ensembl chrNW_004624927:762,967...768,066 		JBrowse link
G Vwa5a von Willebrand factor A domain containing 5A ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004624880:876,339...912,628
Ensembl chrNW_004624880:882,901...912,620 		JBrowse link
G Znf202 zinc finger protein 202 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chrNW_004624880:1,428,279...1,447,071
Ensembl chrNW_004624880:1,439,431...1,447,092 		JBrowse link
holoprosencephaly 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnot1 CCR4-NOT transcription complex subunit 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 12 with or without pancreatic agenesis OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28525974 PMID:31006510 PMID:31006513 More... NCBI chrNW_004624746:27,659,424...27,757,024
Ensembl chrNW_004624746:27,676,325...27,756,754 		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 chrNW_004624797:3,120,123...3,142,564
Ensembl chrNW_004624797:3,120,123...3,142,564 		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 chrNW_004624797:2,659,785...2,794,168
Ensembl chrNW_004624797:2,719,508...2,794,379 		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 chrNW_004624730:33,048,074...33,363,919
Ensembl chrNW_004624730:33,047,933...33,363,939 		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 chrNW_004624738:25,287,574...25,310,643
Ensembl chrNW_004624738:25,287,841...25,309,828 		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 chrNW_004624738:25,310,740...25,330,097
Ensembl chrNW_004624738:25,310,917...25,329,595 		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 chrNW_004624738:25,835,123...26,251,254
Ensembl chrNW_004624738:25,835,163...26,250,729 		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 chrNW_004624738:25,245,792...25,298,397
Ensembl chrNW_004624738:25,245,890...25,283,706 		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 chrNW_004624738:25,340,588...25,452,593
Ensembl chrNW_004624738:25,338,098...25,452,676 		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 chrNW_004624733:12,781,693...12,929,861
Ensembl chrNW_004624733:12,786,347...12,927,980 		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 chrNW_004624738:25,657,084...25,738,913
Ensembl chrNW_004624738:25,656,755...25,723,236 		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 chrNW_004624738:25,802,156...25,835,663
Ensembl chrNW_004624738:25,802,793...25,834,762 		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 chrNW_004624738:26,442,935...26,447,100
Ensembl chrNW_004624738:26,442,965...26,446,942 		JBrowse link
G Six3 SIX homeobox 3 ISO ClinVar Annotator: match by term: Holoprosencephaly 2 | ClinVar Annotator: match by term: SIX3-related condition OMIM
ClinVar		 PMID:10369266 PMID:10923031 PMID:11039582 PMID:14711609 PMID:15221788 More... NCBI chrNW_004624738:26,379,172...26,391,669
Ensembl chrNW_004624738:26,380,088...26,394,252 		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 chrNW_004624738:25,762,064...25,802,407
Ensembl chrNW_004624738:25,768,573...25,802,716 		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 chrNW_004624800:2,340,919...2,416,227 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 chrNW_004624800:1,174,703...1,234,661
Ensembl chrNW_004624800:1,175,679...1,234,951 		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 chrNW_004624800:2,440,502...2,446,647
Ensembl chrNW_004624800:2,438,900...2,446,680 		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 chrNW_004624800:2,616,861...2,625,907
Ensembl chrNW_004624800:2,618,973...2,625,559 		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 chrNW_004624800:2,533,010...2,543,754
Ensembl chrNW_004624800:2,534,967...2,543,075 		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 chrNW_004624800:1,494,183...1,648,978
Ensembl chrNW_004624800:1,494,192...1,648,978 		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 chrNW_004624800:1,426,773...1,431,510
Ensembl chrNW_004624800:1,426,998...1,431,631 		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 chrNW_004624800:432,307...494,361
Ensembl chrNW_004624800:432,258...498,718 		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 chrNW_004624800:1,441,929...1,461,958
Ensembl chrNW_004624800:1,441,827...1,461,686 		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 chrNW_004624800:2,653,381...2,709,261
Ensembl chrNW_004624800:2,653,732...2,707,161 		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 chrNW_004624800:501,884...1,116,795
Ensembl chrNW_004624800:648,264...1,117,312 		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 chrNW_004624800:2,228,579...2,340,903
Ensembl chrNW_004624800:2,234,265...2,340,693 		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 chrNW_004624800:1,659,598...1,690,777
Ensembl chrNW_004624800:1,654,885...1,690,860 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO ClinVar Annotator: match by term: Holoprosencephaly 3 OMIM
ClinVar		 PMID:8896572 PMID:9302262 PMID:9600232 PMID:10479723 PMID:10556296 More... NCBI chrNW_004624800:2,202,986...2,215,309
Ensembl chrNW_004624800:2,203,393...2,212,068 		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 chrNW_004624800:1,276,697...1,366,547
Ensembl chrNW_004624800:1,274,825...1,366,553 		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 chrNW_004624770:13,543,893...13,841,213
Ensembl chrNW_004624770:13,542,680...13,841,352 		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 chrNW_004624770:13,133,319...13,156,420 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 chrNW_004624770:13,158,111...13,200,818
Ensembl chrNW_004624770:13,159,903...13,203,643 		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 chrNW_004624770:13,378,668...13,408,633
Ensembl chrNW_004624770:13,393,106...13,409,139
Ensembl chrNW_004624770:13,393,106...13,409,139 		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 chrNW_004624770:13,239,572...13,356,041
Ensembl chrNW_004624770:13,239,723...13,355,954 		JBrowse link
G Tgif1 TGFB induced factor homeobox 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 4 | ClinVar Annotator: match by term: TGIF1-related condition OMIM
ClinVar		 PMID:10835638 PMID:11810641 PMID:12522553 PMID:16199538 PMID:16962354 More... NCBI chrNW_004624770:13,506,501...13,515,388
Ensembl chrNW_004624770:13,508,409...13,516,457 		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 (PEL blood group) ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chrNW_004624879:1,811,686...2,060,221
Ensembl chrNW_004624879:1,811,651...2,060,099 		JBrowse link
G Bivm basic, immunoglobulin-like variable motif containing ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:28492532 NCBI chrNW_004624793:8,661,320...8,698,081
Ensembl chrNW_004624793:8,662,713...8,692,575 		JBrowse link
G Cldn10 claudin 10 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chrNW_004624879:2,178,896...2,298,905
Ensembl chrNW_004624879:2,179,142...2,298,924 		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 chrNW_004624793:11,240,495...11,479,386
Ensembl chrNW_004624793:11,237,097...11,480,113 		JBrowse link
G Dct dopachrome tautomerase ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chrNW_004624879:1,241,593...1,346,765
Ensembl chrNW_004624879:1,241,910...1,279,444 		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 chrNW_004624879:2,369,332...2,434,433
Ensembl chrNW_004624879:2,369,237...2,434,433 		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 chrNW_004624879:2,301,172...2,355,665
Ensembl chrNW_004624879:2,303,685...2,354,319 		JBrowse link
G Ercc5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:28492532 NCBI chrNW_004624793:8,632,581...8,657,514
Ensembl chrNW_004624793:8,632,471...8,657,346 		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 chrNW_004624793:12,595,521...12,870,803
Ensembl chrNW_004624793:12,592,574...12,796,155 		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 chrNW_004624793:9,021,538...9,641,651
Ensembl chrNW_004624793:9,021,579...9,638,740 		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 chrNW_004624793:10,655,447...10,691,334
Ensembl chrNW_004624793:10,677,662...10,690,034 		JBrowse link
G Gpc5 glypican 5 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chrNW_004624779:982,178...1,712,772
Ensembl chrNW_004624779:982,179...1,659,418 		JBrowse link
G Gpc6 glypican 6 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chrNW_004624879:97,125...1,196,747
Ensembl chrNW_004624879:97,257...1,192,604 		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 chrNW_004624793:11,781,250...11,785,952 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 chrNW_004624879:1,388,033...1,412,727
Ensembl chrNW_004624879:1,387,867...1,410,767 		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 chrNW_004624879:2,678,403...3,408,630
Ensembl chrNW_004624879:2,678,482...3,402,590 		JBrowse link
G Ipo5 importin 5 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chrNW_004624793:12,971,397...13,004,126
Ensembl chrNW_004624793:12,969,459...13,004,139 		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 chrNW_004624793:9,645,076...9,878,788
Ensembl chrNW_004624793:9,645,861...9,878,634 		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 chrNW_004624879:3,768,073...3,921,251
Ensembl chrNW_004624879:3,768,084...3,922,407 		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 chrNW_004624793:8,772,999...8,782,049
Ensembl chrNW_004624793:8,774,561...8,780,792 		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 chrNW_004624793:9,929,980...10,248,107
Ensembl chrNW_004624793:9,915,273...10,249,563 		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 chrNW_004624879:3,540,737...3,548,239
Ensembl chrNW_004624879:3,540,845...3,548,239 		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 chrNW_004624793:10,691,224...11,099,905
Ensembl chrNW_004624793:10,691,224...11,100,853 		JBrowse link
G Poglut2 protein O-glucosyltransferase 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:28492532 NCBI chrNW_004624793:8,698,481...8,711,151
Ensembl chrNW_004624793:8,698,617...8,711,241 		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 chrNW_004624879:3,972,582...4,015,335 JBrowse link
G Slc10a2 solute carrier family 10 member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:28492532 NCBI chrNW_004624793:8,452,536...8,468,835
Ensembl chrNW_004624793:8,452,727...8,468,661 		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 chrNW_004624793:12,348,356...12,393,909
Ensembl chrNW_004624793:12,348,819...12,394,497 		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 chrNW_004624879:1,480,436...1,483,000
Ensembl chrNW_004624879:1,482,081...1,482,911 		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 chrNW_004624793:12,474,346...12,595,052
Ensembl chrNW_004624793:12,474,373...12,595,062 		JBrowse link
G Tex30 testis expressed 30 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:28492532 NCBI chrNW_004624793:8,721,772...8,728,298
Ensembl chrNW_004624793:8,721,762...8,728,505 		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 chrNW_004624879:1,365,464...1,384,726
Ensembl chrNW_004624879:1,366,151...1,384,601 		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 chrNW_004624793:11,515,047...11,644,073
Ensembl chrNW_004624793:11,511,446...11,579,008 		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 chrNW_004624793:10,587,703...10,640,634
Ensembl chrNW_004624793:10,588,037...10,641,260 		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 chrNW_004624793:8,782,956...8,848,547
Ensembl chrNW_004624793:8,779,967...8,848,539 		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 chrNW_004624793:11,658,268...11,824,632
Ensembl chrNW_004624793:11,657,526...11,824,570 		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 chrNW_004624879:2,449,128...2,642,884
Ensembl chrNW_004624879:2,450,316...2,642,954 		JBrowse link
G Zic2 Zic family member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 | ClinVar Annotator: match by term: ZIC2-related condition OMIM
ClinVar		 PMID:9536098 PMID:9771712 PMID:11285244 PMID:15221788 PMID:15590697 More... NCBI chrNW_004624793:11,162,835...11,167,497
Ensembl chrNW_004624793:11,163,916...11,167,457 		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 chrNW_004624793:11,171,431...11,186,415
Ensembl chrNW_004624793:11,176,946...11,189,003 		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 chrNW_004624835:5,316,620...5,468,179
Ensembl chrNW_004624835:5,316,585...5,468,156 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 7 OMIM
ClinVar		 PMID:1347096 PMID:8302318 PMID:9463336 PMID:11941477 PMID:12204003 More... NCBI chrNW_004624753:16,929,503...16,995,255
Ensembl chrNW_004624753:16,935,251...16,995,389 		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 OMIM
ClinVar		 PMID:1756909 PMID:3320637 PMID:9536098 PMID:10725236 PMID:14581620 More... NCBI chrNW_004624732:24,159,407...24,381,495
Ensembl chrNW_004624732:24,159,312...24,328,452 		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 chrNW_004624780:5,161,245...5,212,641
Ensembl chrNW_004624780:5,161,073...5,213,870 		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 chrNW_004624768:16,674,485...16,732,698
Ensembl chrNW_004624768:16,718,978...16,730,707 		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 chrNW_004624803:4,168,556...4,304,642
Ensembl chrNW_004624803:4,168,556...4,299,979 		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 chrNW_004624825:7,366,448...7,410,847
Ensembl chrNW_004624825:7,367,325...7,410,823 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lnpk lunapark, ER junction formation factor ISO ClinVar Annotator: match by term: 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 chrNW_004624787:13,049,079...13,127,052
Ensembl chrNW_004624787:13,048,690...13,120,751 		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 chrNW_004624747:19,843,434...20,031,188
Ensembl chrNW_004624747:19,843,720...20,029,225 		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 chrNW_004624778:15,979,350...17,225,263
Ensembl chrNW_004624778:15,979,467...17,222,039 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO ClinVar Annotator: match by term: Partial agenesis of the corpus callosum ClinVar NCBI chrNW_004624800:2,202,986...2,215,309
Ensembl chrNW_004624800:2,203,393...2,212,068 		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 chrNW_004624754:17,136,791...17,147,991
Ensembl chrNW_004624754:17,135,101...17,147,982 		JBrowse link
Partial Agenesis of Corpus Callosum, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Corpus callosum, partial agenesis of, X-linked OMIM
ClinVar		 PMID:7562969 PMID:7762552 PMID:7920659 PMID:8929944 PMID:9300653 More... NCBI chrNW_004624946:512,413...533,669
Ensembl chrNW_004624946:513,297...525,009 		JBrowse link
spastic tetraplegia, thin corpus callosum, and progressive microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc1a4 solute carrier family 1 member 4 ISO ClinVar Annotator: match by term: SLC1A4-related condition | ClinVar Annotator: match by term: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly OMIM
ClinVar		 PMID:2837306 PMID:25741868 PMID:25930971 PMID:26041762 PMID:26138499 More... NCBI chrNW_004624762:8,532,550...8,558,912
Ensembl chrNW_004624762:8,532,063...8,558,994 		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 chrNW_004624860:3,338,478...3,353,373
Ensembl chrNW_004624860:3,338,690...3,352,396 		JBrowse link
G Acsm4 acyl-CoA synthetase medium chain family member 4 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624782:6,862,210...6,885,556
Ensembl chrNW_004624782:6,862,648...6,885,450 		JBrowse link
G Aicda activation induced cytidine deaminase ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:4,912,938...4,927,846
Ensembl chrNW_004624860:4,912,656...4,926,634 		JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:4,938,001...4,957,640
Ensembl chrNW_004624860:4,938,001...4,957,236 		JBrowse link
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:3,564,741...3,577,889
Ensembl chrNW_004624860:3,571,254...3,577,400 		JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:3,675,926...3,684,598
Ensembl chrNW_004624860:3,676,252...3,684,406 		JBrowse link
G C1rl complement C1r subcomponent like ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:3,686,866...3,693,293
Ensembl chrNW_004624860:3,687,500...3,692,872 		JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:3,658,272...3,667,717
Ensembl chrNW_004624860:3,659,341...3,671,142 		JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:5,196,621...5,204,686
Ensembl chrNW_004624860:5,197,619...5,199,043 		JBrowse link
G Cd163 CD163 molecule ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:3,976,746...4,000,349
Ensembl chrNW_004624860:3,975,747...4,000,349 		JBrowse link
G Cd27 CD27 molecule ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:3,199,493...3,203,683 JBrowse link
G Cd4 CD4 molecule ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:3,470,886...3,492,247
Ensembl chrNW_004624860:3,470,631...3,492,846 		JBrowse link
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:3,516,244...3,519,107
Ensembl chrNW_004624860:3,515,411...3,518,828 		JBrowse link
G Chd4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:3,285,086...3,318,939
Ensembl chrNW_004624860:3,283,837...3,318,985 		JBrowse link
G Clec4e C-type lectin domain family 4 member E ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:4,108,782...4,113,693
Ensembl chrNW_004624860:4,108,640...4,113,839 		JBrowse link
G Clstn3 calsyntenin 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:3,710,121...3,737,617
Ensembl chrNW_004624860:3,709,139...3,738,221 		JBrowse link
G Cops7a COP9 signalosome subunit 7A ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:3,422,033...3,427,610
Ensembl chrNW_004624860:3,421,910...3,428,823 		JBrowse link
G CUNH12orf57 chromosome unknown C12orf57 homolog ISO ClinVar Annotator: match by term: C12orf57-related condition | ClinVar Annotator: match by term: Temtamy syndrome OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21937992 PMID:23453665 More... NCBI chrNW_004624860:3,578,147...3,580,059
Ensembl chrNW_004624860:3,578,336...3,580,059 		JBrowse link
G Dppa3 developmental pluripotency associated 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:4,974,941...4,978,295 JBrowse link
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:3,605,114...3,611,108
Ensembl chrNW_004624860:3,605,126...3,611,108 		JBrowse link
G Eno2 enolase 2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:3,553,936...3,561,343
Ensembl chrNW_004624860:3,553,947...3,564,294 		JBrowse link
G Foxj2 forkhead box J2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:5,176,301...5,195,715
Ensembl chrNW_004624860:5,176,257...5,195,682 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:3,257,805...3,261,736
Ensembl chrNW_004624860:3,257,853...3,261,735 		JBrowse link
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:4,968,624...4,970,362 JBrowse link
G Gnb3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:3,509,185...3,515,025
Ensembl chrNW_004624860:3,509,397...3,515,352 		JBrowse link
G Gpr162 G protein-coupled receptor 162 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:3,492,761...3,497,896
Ensembl chrNW_004624860:3,493,075...3,498,374 		JBrowse link
G Iffo1 intermediate filament family orphan 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:3,262,205...3,273,859
Ensembl chrNW_004624860:3,262,205...3,273,867 		JBrowse link
G Ing4 inhibitor of growth family member 4 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:3,353,443...3,362,541
Ensembl chrNW_004624860:3,353,489...3,362,430 		JBrowse link
G Lag3 lymphocyte activating 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:3,454,587...3,461,649
Ensembl chrNW_004624860:3,456,347...3,461,592 		JBrowse link
G Lpar5 lysophosphatidic acid receptor 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:3,327,847...3,337,851
Ensembl chrNW_004624860:3,327,936...3,328,928 		JBrowse link
G Lpcat3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:3,611,300...3,642,682
Ensembl chrNW_004624860:3,611,300...3,642,686 		JBrowse link
G Lrrc23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:3,547,199...3,553,763
Ensembl chrNW_004624860:3,547,179...3,553,849 		JBrowse link
G Ltbr lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:3,152,041...3,158,690
Ensembl chrNW_004624860:3,152,517...3,162,848 		JBrowse link
G Mfap5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:4,877,811...4,891,149
Ensembl chrNW_004624860:4,881,981...4,888,527 		JBrowse link
G Mlf2 myeloid leukemia factor 2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:3,437,286...3,441,332
Ensembl chrNW_004624860:3,437,136...3,441,455 		JBrowse link
G Mrpl51 mitochondrial ribosomal protein L51 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:3,228,155...3,229,037
Ensembl chrNW_004624860:3,228,155...3,229,036 		JBrowse link
G Nanog Nanog homeobox ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:5,026,203...5,037,219 JBrowse link
G Ncapd2 non-SMC condensin I complex subunit D2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:3,229,091...3,256,631
Ensembl chrNW_004624860:3,230,577...3,256,407 		JBrowse link
G Necap1 NECAP endocytosis associated 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:5,224,170...5,237,235
Ensembl chrNW_004624860:5,223,610...5,237,451 		JBrowse link
G Nop2 NOP2 nucleolar protein ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:3,273,944...3,284,150 JBrowse link
G P3h3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:3,498,493...3,508,999
Ensembl chrNW_004624860:3,498,547...3,508,682 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:3,771,949...3,790,982
Ensembl chrNW_004624860:3,771,963...3,790,985 		JBrowse link
G Phb2 prohibitin 2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:3,599,435...3,605,016
Ensembl chrNW_004624860:3,599,687...3,604,872 		JBrowse link
G Pianp PILR alpha associated neural protein ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:3,396,105...3,417,986
Ensembl chrNW_004624860:3,396,237...3,400,909 		JBrowse link
G Ptms parathymosin ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:3,450,504...3,454,494
Ensembl chrNW_004624860:3,450,661...3,454,018 		JBrowse link
G Ptpn6 protein tyrosine phosphatase non-receptor type 6 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:3,580,225...3,595,403
Ensembl chrNW_004624860:3,580,560...3,595,090 		JBrowse link
G Rbp5 retinol binding protein 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:3,705,210...3,709,179
Ensembl chrNW_004624860:3,705,210...3,709,055 		JBrowse link
G Rimklb ribosomal modification protein rimK like family member B ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:4,811,449...4,861,470
Ensembl chrNW_004624860:4,811,449...4,844,431 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:3,123,676...3,152,217
Ensembl chrNW_004624860:3,126,379...3,145,043 		JBrowse link
G Slc2a3 solute carrier family 2 member 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:5,069,246...5,153,435 JBrowse link
G Tapbpl TAP binding protein like ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:3,203,683...3,211,901
Ensembl chrNW_004624860:3,205,093...3,211,584 		JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:3,111,244...3,123,041
Ensembl chrNW_004624860:3,111,630...3,122,711 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:3,533,226...3,536,786
Ensembl chrNW_004624860:3,533,320...3,539,755 		JBrowse link
G Usp5 ubiquitin specific peptidase 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:3,519,106...3,532,690
Ensembl chrNW_004624860:3,519,113...3,532,687 		JBrowse link
G Vamp1 vesicle associated membrane protein 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:3,212,549...3,219,354
Ensembl chrNW_004624860:3,213,474...3,219,359 		JBrowse link
G Znf384 zinc finger protein 384 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chrNW_004624860:3,365,103...3,389,907
Ensembl chrNW_004624860:3,365,339...3,389,346 		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 chrNW_004624778:9,982,923...10,089,204
Ensembl chrNW_004624778:9,982,936...10,086,937 		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 chrNW_004624778:9,835,272...9,924,462
Ensembl chrNW_004624778:9,877,100...9,925,512 		JBrowse link
G Atp5f1a ATP synthase F1 subunit alpha ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chrNW_004624778:9,773,365...9,784,564
Ensembl chrNW_004624778:9,773,064...9,784,533 		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 OMIM
ClinVar		 PMID:3344762 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 More... NCBI chrNW_004624778:9,490,744...9,614,289
Ensembl chrNW_004624778:9,491,258...9,614,299 		JBrowse link
G Haus1 HAUS augmin like complex subunit 1 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chrNW_004624778:9,784,623...9,799,204 JBrowse link
G Hdhd2 haloacid dehalogenase like hydrolase domain containing 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chrNW_004624778:10,655,560...10,703,759
Ensembl chrNW_004624778:10,657,801...10,704,043 		JBrowse link
G Ier3ip1 immediate early response 3 interacting protein 1 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chrNW_004624778:10,707,363...10,724,822
Ensembl chrNW_004624778:10,705,916...10,739,006 		JBrowse link
G Katnal2 katanin catalytic subunit A1 like 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chrNW_004624778:10,599,429...10,664,022
Ensembl chrNW_004624778:10,561,459...10,663,686 		JBrowse link
G Loxhd1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chrNW_004624778:10,106,009...10,282,085
Ensembl chrNW_004624778:10,106,975...10,282,085 		JBrowse link
G Pias2 protein inhibitor of activated STAT 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chrNW_004624778:10,426,788...10,530,854
Ensembl chrNW_004624778:10,434,550...10,530,766 		JBrowse link
G Pstpip2 proline-serine-threonine phosphatase interacting protein 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chrNW_004624778:9,629,841...9,761,005
Ensembl chrNW_004624778:9,628,340...9,760,963 		JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chrNW_004624778:8,444,681...8,800,595
Ensembl chrNW_004624778:8,465,462...8,800,815 		JBrowse link
G Siglec15 sialic acid binding Ig like lectin 15 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chrNW_004624778:9,472,529...9,487,973 JBrowse link
G Skor2 SKI family transcriptional corepressor 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chrNW_004624778:10,757,829...10,807,277
Ensembl chrNW_004624778:10,758,013...10,809,789 		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 chrNW_004624778:9,397,773...9,419,604
Ensembl chrNW_004624778:9,403,405...9,419,841 		JBrowse link
G Slc14a2 solute carrier family 14 member 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chrNW_004624778:8,943,209...9,379,942
Ensembl chrNW_004624778:9,330,064...9,379,942 		JBrowse link
G Smad2 SMAD family member 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chrNW_004624778:11,380,656...11,460,566
Ensembl chrNW_004624778:11,384,769...11,501,078 		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 chrNW_004624778:10,293,685...10,390,340
Ensembl chrNW_004624778:10,305,450...10,389,625 		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 with fetal akinesia/hypokinesia sequence ClinVar NCBI chrNW_004624893:871,163...879,709
Ensembl chrNW_004624893:871,355...879,674 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14234
    Pathological Conditions, Signs and Symptoms 11245
      Anatomical Pathological Conditions 2492
        Agenesis of Corpus Callosum 341
          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 1
          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 56
          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 + 190
          neurodevelopmental disorder with dysmorphic facies and thin corpus callosum 1
          spastic tetraplegia, thin corpus callosum, and progressive microcephaly 1
Path 2
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  disease 14234
    Developmental Disease 12524
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11800
        Congenital Abnormalities 7175
          Nervous System Malformations 2318
            Agenesis of Corpus Callosum 341
              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 1
              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 56
              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 + 190
              neurodevelopmental disorder with dysmorphic facies and thin corpus callosum 1
              spastic tetraplegia, thin corpus callosum, and progressive microcephaly 1
paths to the root