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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: OMIM:217990


show annotations for term's descendants           Sort by:
Agenesis of Corpus Callosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADNP activity dependent neuroprotector homeobox ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:24531329 PMID:25741868 PMID:27031564 PMID:28135719 PMID:28221363 More... NCBI chr20:47,233,696...47,276,075
Ensembl chr20:48,361,043...48,400,387 		JBrowse link
G ARID1B AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:25741868 PMID:30349098 PMID:34706719 NCBI chr 6:154,581,148...155,018,706 JBrowse link
G ARMC9 armadillo repeat containing 9 ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:25741868 PMID:28492532 NCBI chr2B:118,454,310...118,644,303
Ensembl chr2B:237,243,120...237,412,620 		JBrowse link
G ARX aristaless related homeobox ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:25741868 NCBI chr  X:17,598,858...17,612,544 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 chr 7:64,822,964...66,015,831
Ensembl chr 7:77,495,909...78,686,763 		JBrowse link
G BCL11A BCL11 transcription factor A ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:31474318 NCBI chr2A:60,552,908...60,655,437
Ensembl chr2A:61,695,613...61,795,800 		JBrowse link
G BORCS5 BLOC-1 related complex subunit 5 ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar NCBI chr12:12,380,071...12,488,735
Ensembl chr12:12,749,104...12,857,043 		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 chr11:69,085,434...69,244,791 JBrowse link
G CDH2 cadherin 2 ISO ClinVar Annotator: match by term: Corpus callosum agenesis | ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:25741868 PMID:31585109 NCBI chr18:21,210,001...21,435,919
Ensembl chr18:24,812,019...25,008,325 		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 chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529 		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:20689175 More... NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206 		JBrowse link
G DCC DCC netrin 1 receptor ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:24808016 PMID:28250454 PMID:31589614 PMID:35246524 PMID:36123965 NCBI chr18:45,717,924...46,913,998
Ensembl chr18:49,268,812...50,255,155 		JBrowse link
G DHX16 DEAH-box helicase 16 ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:31256877 NCBI chr 6:30,397,774...30,417,758
Ensembl chr 6:31,267,669...31,287,435 		JBrowse link
G EP300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:25741868 NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604 		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 chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819 		JBrowse link
G FZD3 frizzled class receptor 3 ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:31474318 NCBI chr 8:27,773,699...27,853,980
Ensembl chr 8:24,973,644...25,042,115 		JBrowse link
G KIF4A kinesin family member 4A ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:31474318 NCBI chr  X:59,558,491...59,688,711
Ensembl chr  X:69,618,244...69,746,235 		JBrowse link
G MED12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Corpus callosum agenesis ClinVar PMID:10405444 PMID:17334363 PMID:18691967 PMID:18805826 PMID:18973276 More... NCBI chr  X:60,386,820...60,410,730
Ensembl chr  X:70,443,667...70,466,942 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977 		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 NCBI chr 3:46,916,615...47,064,046
Ensembl chr 3:48,018,517...48,163,999 		JBrowse link
G SIN3A SIN3 transcription regulator family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:27399968 NCBI chr15:54,285,587...54,371,376
Ensembl chr15:73,881,500...73,966,506 		JBrowse link
G TMLHE trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:31474318 NCBI chr  X:144,956,906...145,081,204 JBrowse link
G YARS1 tyrosyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Corpus callosum, agenesis of ClinVar PMID:29232904 NCBI chr 1:32,068,202...32,108,664
Ensembl chr 1:33,232,905...33,294,558 		JBrowse link
acrocallosal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP41 centrosomal protein 41 ISO ClinVar Annotator: match by term: Joubert syndrome 12/15, digenic ClinVar PMID:22246503 PMID:28492532 NCBI chr 7:122,360,248...122,406,260
Ensembl chr 7:134,880,086...134,924,657 		JBrowse link
G FOXG1 forkhead box G1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18627055
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 chr15:68,312,064...68,349,864
Ensembl chr15:87,529,290...87,553,445 		JBrowse link
G SHH sonic hedgehog signaling molecule ISO ClinVar Annotator: match by term: Acrocallosal syndrome ClinVar PMID:25741868 PMID:29321670 NCBI chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651 		JBrowse link
G TICRR TOPBP1 interacting checkpoint and replication regulator ISO ClinVar Annotator: match by term: Acrocallosal syndrome ClinVar NCBI chr15:68,270,029...68,322,201
Ensembl chr15:87,476,738...87,528,870 		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:18798333 PMID:25741868 PMID:28492532 PMID:31585109 PMID:31650526 NCBI chr18:21,210,001...21,435,919
Ensembl chr18:24,812,019...25,008,325 		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 chr 3:10,260,556...10,643,346
Ensembl chr 3:10,611,619...10,738,006 		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 chr15:47,156,583...47,215,805
Ensembl chr15:65,425,472...65,985,242 		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 chr15:12,734,031...12,739,345
Ensembl chr15:31,568,622...31,573,547 		JBrowse link
G NOP10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy ClinVar NCBI chr15:12,850,708...12,852,171
Ensembl chr15:31,684,833...31,686,305 		JBrowse link
G SLC12A6 solute carrier family 12 member 6 ISO 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 chr15:12,741,526...12,846,894
Ensembl chr15:31,576,756...31,680,061 		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 chr 8:141,240,691...141,244,381
Ensembl chr 8:144,225,933...144,232,736 		JBrowse link
G PRRX1 paired related homeobox 1 ISO ClinVar Annotator: match by term: Agnathia-otocephaly complex OMIM
ClinVar		 PMID:12244557 PMID:21294718 PMID:22211708 PMID:22674740 PMID:23444262 More... NCBI chr 1:146,151,633...146,227,926
Ensembl chr 1:149,867,634...149,943,810 		JBrowse link
G TRAPPC10 trafficking protein particle complex subunit 10 ISO OMIM:202650 MouseDO NCBI chr21:30,269,085...30,363,396
Ensembl chr21:43,581,617...43,656,740 		JBrowse link
Aicardi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARX aristaless related homeobox ISO ClinVar Annotator: match by term: Aicardi syndrome ClinVar PMID:25741868 NCBI chr  X:17,598,858...17,612,544 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:28150392 NCBI chr 3:44,656,791...44,774,655
Ensembl chr 3:45,713,962...45,809,700 		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: Deafness, autosomal recessive 82 | ClinVar Annotator: match by term: Deafness, bilateral sensorineural, and hydrocephalus due to foramen of monro obstruction ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:111,309,680...111,340,851
Ensembl chr 1:110,473,752...110,505,613 		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 OMIM
ClinVar		 PMID:10449658 PMID:20602914 PMID:21348867 PMID:22578326 PMID:22987632 More... NCBI chr 1:111,253,158...111,309,619 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 OMIM
ClinVar		 PMID:15505824 PMID:18539099 PMID:25741868 PMID:28492532 PMID:28749478 NCBI chr10:69,796,505...69,800,304
Ensembl chr10:72,255,326...72,259,172 		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 chr  X:17,598,858...17,612,544 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 chr  X:59,401,426...59,434,363
Ensembl chr  X:69,460,734...69,493,616 		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 OMIM
ClinVar		 PMID:25388005 PMID:25741868 PMID:28492532 NCBI chr10:13,643,371...14,331,368
Ensembl chr10:13,975,845...14,192,399 		JBrowse link
Donnai-Barrow syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMBRD1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: Donnai-Barrow syndrome ClinVar PMID:19136951 PMID:25741868 PMID:28492532 NCBI chr 6:67,515,861...67,638,039
Ensembl chr 6:70,814,770...70,937,116 		JBrowse link
G LRP2 LDL receptor related protein 2 ISO 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 chr2B:56,407,871...56,640,471
Ensembl chr2B:173,873,767...174,103,697 		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 DNA:missense mutation:exon:p.R28L (c.83G>T) (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:19200522 RGD:11576290 NCBI chr  X:33,967,329...34,374,385
Ensembl chr  X:41,659,295...42,066,570 		JBrowse link
G FLNA filamin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632775 NCBI chr  X:143,799,088...143,825,282 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: Opitz-Kaveggia syndrome ClinVar PMID:6711603 PMID:8279489 PMID:9536098 PMID:10405444 PMID:10982179 More... NCBI chr  X:60,386,820...60,410,730
Ensembl chr  X:70,443,667...70,466,942 		JBrowse link
FG Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXHXorf65 chromosome X CXorf65 homolog ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:60,372,451...60,375,636
Ensembl chr  X:70,430,424...70,432,508 		JBrowse link
G FOXO4 forkhead box O4 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:60,364,466...60,372,147
Ensembl chr  X:70,422,504...70,429,971 		JBrowse link
G GJB1 gap junction protein beta 1 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:60,490,579...60,492,606
Ensembl chr  X:70,547,110...70,547,961 		JBrowse link
G IL2RG interleukin 2 receptor subunit gamma ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:60,375,815...60,386,936
Ensembl chr  X:70,433,360...70,437,590 		JBrowse link
G ITGB1BP2 integrin subunit beta 1 binding protein 2 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:60,564,946...60,569,045
Ensembl chr  X:70,620,025...70,624,138 		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:9536098 PMID:10405444 More... NCBI chr  X:60,386,820...60,410,730
Ensembl chr  X:70,443,667...70,466,942 		JBrowse link
G NLGN3 neuroligin 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:60,413,098...60,439,359
Ensembl chr  X:70,469,764...70,496,526 		JBrowse link
G NONO non-POU domain containing octamer binding ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:60,547,277...60,564,845
Ensembl chr  X:70,602,456...70,619,956 		JBrowse link
G SLC7A3 solute carrier family 7 member 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:60,193,997...60,199,564
Ensembl chr  X:70,253,441...70,258,991 		JBrowse link
G SNX12 sorting nexin 12 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:60,327,484...60,336,682
Ensembl chr  X:70,384,164...70,395,737 		JBrowse link
G TAF1 TATA-box binding protein associated factor 1 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:60,630,137...60,729,904
Ensembl chr  X:70,684,217...70,782,323 		JBrowse link
G TEX11 testis expressed 11 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:59,796,821...60,175,517
Ensembl chr  X:69,877,751...70,233,320 		JBrowse link
G ZMYM3 zinc finger MYM-type containing 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:60,503,245...60,518,830
Ensembl chr  X:70,559,268...70,573,852 		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:10982489 PMID:12612583 PMID:16299064 PMID:16417552 PMID:16822260 More... NCBI chr  X:143,799,088...143,825,282 JBrowse link
FG Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASK calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: CASK-Related Disorder | ClinVar Annotator: match by term: FG syndrome 4 OMIM
ClinVar		 PMID:18414213 PMID:19165920 PMID:19200522 PMID:19377476 PMID:20029458 More... NCBI chr  X:33,967,329...34,374,385
Ensembl chr  X:41,659,295...42,066,570 		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 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 NCBI chr 3:122,357,670...122,507,142
Ensembl chr 3:129,229,690...129,320,554 		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 chr15:23,668,108...23,674,791
Ensembl chr15:41,836,345...41,842,991 		JBrowse link
G CHAT choline O-acetyltransferase ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chr10:44,574,925...44,629,618 JBrowse link
G EIF3J eukaryotic translation initiation factor 3 subunit J ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar NCBI chr15:23,493,363...23,518,705 JBrowse link
G GCH1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chr14:35,428,676...35,489,359
Ensembl chr14:53,706,723...53,767,393 		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 chr15:23,622,330...23,667,962
Ensembl chr15:41,790,682...41,801,825 		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 chr2B:53,258,614...53,348,131
Ensembl chr2B:170,736,651...170,822,014 		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 chr 7:88,072,139...88,273,470
Ensembl chr 7:101,658,507...101,859,587 		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 chr15:23,519,311...23,620,532
Ensembl chr15:41,688,081...41,788,616 		JBrowse link
G TBR1 T-box brain transcription factor 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chr2B:48,709,687...48,719,382 JBrowse link
G TRIM69 tripartite motif containing 69 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar PMID:28492532 NCBI chr15:23,691,927...23,724,349
Ensembl chr15:41,861,525...41,893,069 		JBrowse link
holoprosencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCK5 aarF domain containing kinase 5 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:141,137,617...141,158,662
Ensembl chr 8:144,130,992...144,150,133 		JBrowse link
G BOC BOC cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28677295 NCBI chr 3:110,354,576...110,429,954
Ensembl chr 3:117,277,769...117,352,741 		JBrowse link
G BOP1 BOP1 ribosomal biogenesis factor ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:141,024,518...141,055,173
Ensembl chr 8:144,015,601...144,043,280 		JBrowse link
G CCDC166 coiled-coil domain containing 166 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:140,456,282...140,460,283 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:26728615 PMID:28492532 NCBI chr11:120,772,160...120,877,529
Ensembl chr11:124,685,084...124,786,091 		JBrowse link
G CLYBL citramalyl-CoA lyase ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chr13:80,774,572...81,066,375
Ensembl chr13:99,912,773...100,195,417 		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 chr16:38,793,212...38,902,686
Ensembl chr16:57,919,283...58,027,472 		JBrowse link
G CPSF1 cleavage and polyadenylation specific factor 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:141,158,494...141,176,354
Ensembl chr 8:144,148,075...144,166,043 		JBrowse link
G CREB1 cAMP responsive element binding protein 1 ISO protein:increased localization: prechordal mesoderm, nucleus RGD PMID:18338389 RGD:12801437 NCBI chr2B:94,762,796...94,836,304
Ensembl chr2B:212,891,261...212,958,130 		JBrowse link
G CRIPTO cripto, EGF-CFC family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:12073012 NCBI chr 3:46,473,282...46,478,454
Ensembl chr 3:47,577,949...47,583,126 		JBrowse link
G CYP11B1 cytochrome P450 family 11 subfamily B member 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:139,584,976...139,592,466
Ensembl chr 8:142,629,127...142,634,654 		JBrowse link
G CYP11B2 cytochrome P450 family 11 subfamily B member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:139,622,632...139,630,014
Ensembl chr 8:142,666,534...142,672,575 		JBrowse link
G DGAT1 diacylglycerol O-acyltransferase 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:141,079,948...141,090,619
Ensembl chr 8:144,064,587...144,080,155 		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 chr 1:198,488,047...198,679,013
Ensembl chr 1:203,628,338...203,692,218 		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:25741868 PMID:28492532 NCBI chr 6:168,440,192...168,449,071
Ensembl chr 6:173,534,292...173,544,759 		JBrowse link
G DOCK9 dedicator of cytokinesis 9 ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chr13:79,964,350...80,256,416
Ensembl chr13:99,106,971...99,325,589 		JBrowse link
G EEF1D eukaryotic translation elongation factor 1 delta ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:140,333,100...140,350,955
Ensembl chr 8:143,340,928...143,362,971 		JBrowse link
G EPPK1 epiplakin 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:140,611,627...140,640,303 JBrowse link
G EXOSC4 exosome component 4 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 Ensembl chr 8:143,837,256...143,839,292 JBrowse link
G FAM83H family with sequence similarity 83 member H ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:140,476,051...140,492,613
Ensembl chr 8:143,491,945...143,496,919 		JBrowse link
G FBXL6 F-box and leucine rich repeat protein 6 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:141,119,114...141,122,315 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 chr10:98,372,251...98,378,811
Ensembl chr10:101,844,792...101,853,916 		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 chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904 		JBrowse link
G FOXH1 forkhead box H1 ISO ClinVar Annotator: match by term: FOXH1-related condition | ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:18538293 PMID:25741868 PMID:28492532 NCBI chr 8:141,240,691...141,244,381
Ensembl chr 8:144,225,933...144,232,736 		JBrowse link
G GAS1 growth arrest specific 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17525797 NCBI chr 9:58,079,700...58,082,849
Ensembl chr 9:86,139,009...86,140,045 		JBrowse link
G GFUS GDP-L-fucose synthase ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:140,366,003...140,371,018
Ensembl chr 8:143,381,054...143,386,008 		JBrowse link
G GGACT gamma-glutamylamine cyclotransferase ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chr13:81,678,715...81,757,024
Ensembl chr13:100,839,483...100,839,944 		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 NCBI chr2B:7,665,403...7,922,840
Ensembl chr2B:121,303,831...121,497,442 		JBrowse link
G GLI4 GLI family zinc finger 4 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:139,999,582...140,025,091 JBrowse link
G GML glycosylphosphatidylinositol anchored molecule like ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:139,497,857...139,560,838
Ensembl chr 8:142,589,622...142,601,636 		JBrowse link
G GPAA1 glycosylphosphatidylinositol anchor attachment 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532
G GPIHBP1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:139,960,255...139,964,189
Ensembl chr 8:142,980,151...142,985,429 		JBrowse link
G GPR18 G protein-coupled receptor 18 ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chr13:80,423,534...80,427,604
Ensembl chr13:99,562,589...99,563,584 		JBrowse link
G GPR183 G protein-coupled receptor 183 ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chr13:80,461,908...80,475,046
Ensembl chr13:99,601,220...99,602,305 		JBrowse link
G GPT glutamic--pyruvic transaminase ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 Ensembl chr 8:144,259,991...144,263,737 JBrowse link
G GRINA glutamate ionotropic receptor NMDA type subunit associated protein 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 Ensembl chr 8:143,749,331...143,752,071 JBrowse link
G GSDMD gasdermin D ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:140,311,042...140,316,084
Ensembl chr 8:143,326,319...143,331,455 		JBrowse link
G HGH1 HGH1 homolog ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:140,902,291...140,905,270 JBrowse link
G HSF1 heat shock transcription factor 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:141,055,310...141,078,360
Ensembl chr 8:144,062,137...144,067,866 		JBrowse link
G KIFC2 kinesin family member C2 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:141,232,942...141,241,181
Ensembl chr 8:144,222,468...144,228,947 		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 chr20:58,673,850...58,677,760
Ensembl chr20:59,992,130...60,055,765 		JBrowse link
G LOC100980434 chromosome 8 C8orf31 homolog ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:139,769,903...139,772,674 JBrowse link
G LOC100995886 cytochrome c1, heme protein, mitochondrial ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:140,861,432...140,863,900
Ensembl chr 8:143,853,354...143,855,847 		JBrowse link
G LY6D lymphocyte antigen 6 family member D ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:139,497,413...139,499,182
Ensembl chr 8:142,540,251...142,542,207 		JBrowse link
G LY6E lymphocyte antigen 6 family member E ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532
G LY6H lymphocyte antigen 6 family member H ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:139,904,883...139,907,583
Ensembl chr 8:142,928,511...142,930,464 		JBrowse link
G LYNX1 Ly6/neurotoxin 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:139,483,627...139,490,722
Ensembl chr 8:142,526,506...142,533,707 		JBrowse link
G LYPD2 LY6/PLAUR domain containing 2 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:139,462,128...139,464,461
Ensembl chr 8:142,505,939...142,508,272 		JBrowse link
G MAF1 MAF1 homolog, negative regulator of RNA polymerase III ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:140,870,815...140,873,947 JBrowse link
G MAFA MAF bZIP transcription factor A ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:140,178,322...140,181,152 JBrowse link
G MAPK15 mitogen-activated protein kinase 15 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:140,468,365...140,474,604
Ensembl chr 8:143,481,567...143,492,859 		JBrowse link
G MATN4 matrilin 4 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:25558065 NCBI chr20:41,624,565...41,642,914
Ensembl chr20:42,714,786...42,733,162 		JBrowse link
G MFSD3 major facilitator superfamily domain containing 3 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 Ensembl chr 8:144,264,507...144,267,218 JBrowse link
G MROH1 maestro heat like repeat family member 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:140,912,479...141,024,345
Ensembl chr 8:143,920,577...144,017,616 		JBrowse link
G MROH6 maestro heat like repeat family member 6 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:140,319,049...140,327,986 JBrowse link
G NAPRT nicotinate phosphoribosyltransferase ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:140,328,119...140,331,972
Ensembl chr 8:143,340,928...143,362,971 		JBrowse link
G NODAL nodal growth differentiation factor ISO ClinVar Annotator: match by term: Holoprosencephaly | ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:19064609 PMID:19553149 PMID:22352765 PMID:24033266 PMID:25741868 More... NCBI chr10:66,906,866...66,916,938
Ensembl chr10:69,433,959...69,443,972 		JBrowse link
G NOSIP nitric oxide synthase interacting protein ISO MouseDO NCBI chr19:46,571,397...46,595,570
Ensembl chr19:55,491,410...55,515,691 		JBrowse link
G NRBP2 nuclear receptor binding protein 2 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:140,588,105...140,595,499
Ensembl chr 8:143,600,061...143,607,298 		JBrowse link
G OPLAH 5-oxoprolinase, ATP-hydrolysing ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 Ensembl chr 8:143,809,440...143,818,219 JBrowse link
G PARP10 poly(ADP-ribose) polymerase family member 10 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:140,743,061...140,744,014
Ensembl chr 8:143,735,819...143,744,138 		JBrowse link
G PCCA propionyl-CoA carboxylase subunit alpha ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chr13:81,259,313...81,699,117
Ensembl chr13:100,390,959...100,837,772 		JBrowse link
G PGAP1 post-GPI attachment to proteins inositol deacylase 1 ISO MouseDO NCBI chr2B:84,076,945...84,166,385
Ensembl chr2B:201,983,321...202,064,467 		JBrowse link
G PIGN phosphatidylinositol glycan anchor biosynthesis class N ISO MouseDO NCBI chr18:55,415,182...55,557,092
Ensembl chr18:58,733,740...58,875,183 		JBrowse link
G PLEC plectin ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:140,681,252...140,742,753
Ensembl chr 8:143,674,696...143,712,433 		JBrowse link
G PPP1R16A protein phosphatase 1 regulatory subunit 16A ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:141,245,047...141,269,015
Ensembl chr 8:144,252,884...144,257,593 		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 chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:140,571,688...140,584,778
Ensembl chr 8:143,583,451...143,597,399 		JBrowse link
G PYCR3 pyrroline-5-carboxylate reductase 3 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:140,356,586...140,362,972
Ensembl chr 8:143,371,748...143,378,032 		JBrowse link
G RECQL4 RecQ like helicase 4 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 Ensembl chr 8:144,267,101...144,276,985 JBrowse link
G RHPN1 rhophilin Rho GTPase binding protein 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:140,115,455...140,131,070
Ensembl chr 8:143,135,016...143,150,235 		JBrowse link
G SCRIB scribble planar cell polarity protein ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:140,544,797...140,571,078
Ensembl chr 8:143,557,722...143,582,353 		JBrowse link
G SCRT1 scratch family transcriptional repressor 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:141,094,285...141,100,298 JBrowse link
G SCX scleraxis bHLH transcription factor ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:141,027,765...141,031,194 JBrowse link
G SHARPIN SHANK associated RH domain interactor ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:140,865,009...140,870,580
Ensembl chr 8:143,854,902...143,862,888 		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 chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651 		JBrowse link
G SIX3 SIX homeobox 3 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:10369266 PMID:15523651 RGD:1599335 RGD:1599336 NCBI chr2A:45,038,634...45,072,867 JBrowse link
G SLC15A1 solute carrier family 15 member 1 ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chr13:79,855,805...79,902,215
Ensembl chr13:98,998,894...99,065,008 		JBrowse link
G SLC39A4 solute carrier family 39 member 4 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:141,178,792...141,183,565
Ensembl chr 8:144,169,089...144,173,517 		JBrowse link
G SLC52A2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:141,122,292...141,124,985
Ensembl chr 8:144,112,498...144,114,319 		JBrowse link
G SLURP1 secreted LY6/PLAUR domain containing 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:139,452,550...139,454,005
Ensembl chr 8:142,496,754...142,498,207 		JBrowse link
G SPATC1 spermatogenesis and centriole associated 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 Ensembl chr 8:143,770,675...143,808,015 JBrowse link
G STK24 serine/threonine kinase 24 ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chr13:79,614,662...79,744,772
Ensembl chr13:98,764,900...98,837,807 		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 chr10:99,107,516...99,231,761
Ensembl chr10:102,571,886...102,696,472 		JBrowse link
G TGIF1 TGFB induced factor homeobox 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:25741868 PMID:28492532 NCBI chr18:10,819,015...10,830,282
Ensembl chr18:13,128,359...13,139,145 		JBrowse link
G TIGD5 tigger transposable element derived 5 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:140,351,189...140,353,670
Ensembl chr 8:143,366,390...143,368,240 		JBrowse link
G TM9SF2 transmembrane 9 superfamily member 2 ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chr13:80,669,277...80,731,340
Ensembl chr13:99,807,555...99,869,456 		JBrowse link
G TMEM249 transmembrane protein 249 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:141,115,959...141,119,290
Ensembl chr 8:144,106,167...144,108,616 		JBrowse link
G TMTC4 transmembrane O-mannosyltransferase targeting cadherins 4 ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chr13:81,771,668...81,841,926
Ensembl chr13:100,910,277...100,976,164 		JBrowse link
G TONSL tonsoku like, DNA repair protein ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:141,195,959...141,211,849
Ensembl chr 8:144,185,674...144,201,040 		JBrowse link
G TOP1MT DNA topoisomerase I mitochondrial ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:140,056,468...140,106,510 JBrowse link
G TWSG1 twisted gastrulation BMP signaling modulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15013800 NCBI chr18:4,883,688...4,950,963
Ensembl chr18:7,164,091...7,229,271 		JBrowse link
G UBAC2 UBA domain containing 2 ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chr13:80,370,475...80,554,055
Ensembl chr13:99,509,508...99,692,537 		JBrowse link
G VPS28 VPS28 subunit of ESCRT-I ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:141,189,967...141,195,482
Ensembl chr 8:144,180,081...144,185,175 		JBrowse link
G ZC3H3 zinc finger CCCH-type containing 3 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:140,188,041...140,294,113
Ensembl chr 8:143,203,325...143,310,210 		JBrowse link
G ZFP41 ZFP41 zinc finger protein ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:139,994,105...139,999,368
Ensembl chr 8:143,020,023...143,020,622 		JBrowse link
G ZFTRAF1 zinc finger TRAF-type containing 1 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:141,217,179...141,229,953
Ensembl chr 8:144,205,966...144,221,599 		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 chr13:81,151,669...81,156,648 JBrowse link
G ZIC5 Zic family member 5 ISO ClinVar Annotator: match by term: Lobar holoprosencephaly ClinVar NCBI chr13:81,132,841...81,149,539 JBrowse link
G ZNF623 zinc finger protein 623 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:140,388,868...140,407,482 JBrowse link
G ZNF696 zinc finger protein 696 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:28492532 NCBI chr 8:140,032,518...140,047,588
Ensembl chr 8:143,061,971...143,065,773 		JBrowse link
G ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 ISO ClinVar Annotator: match by term: Holoprosencephaly sequence ClinVar PMID:25679214 PMID:25741868 PMID:31680349 NCBI chr  X:8,413,483...8,447,340
Ensembl chr  X:15,772,064...15,804,913 		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 chr11:120,772,160...120,877,529
Ensembl chr11:124,685,084...124,786,091 		JBrowse link
G FGF8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:18596921 PMID:21045958 PMID:28492532 NCBI chr10:98,372,251...98,378,811
Ensembl chr10:101,844,792...101,853,916 		JBrowse link
G GAS1 growth arrest specific 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:20583177 PMID:21842183 NCBI chr 9:58,079,700...58,082,849
Ensembl chr 9:86,139,009...86,140,045 		JBrowse link
G GLI2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr2B:7,665,403...7,922,840
Ensembl chr2B:121,303,831...121,497,442 		JBrowse link
G ZIC2 Zic family member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 1 ClinVar PMID:22859937 NCBI chr13:81,151,669...81,156,648 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 chr2B:7,665,403...7,922,840
Ensembl chr2B:121,303,831...121,497,442 		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 chr11:120,493,328...120,502,632
Ensembl chr11:124,406,467...124,415,043 		JBrowse link
G CCDC15 coiled-coil domain containing 15 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:119,781,702...119,872,629
Ensembl chr11:123,696,718...123,782,549 		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 chr11:120,772,160...120,877,529
Ensembl chr11:124,685,084...124,786,091 		JBrowse link
G CHEK1 checkpoint kinase 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:120,446,352...120,478,207
Ensembl chr11:124,359,218...124,390,981 		JBrowse link
G DDX25 DEAD-box helicase 25 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:120,718,758...120,738,527
Ensembl chr11:124,632,841...124,667,585 		JBrowse link
G EI24 EI24 autophagy associated transmembrane protein ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:120,389,136...120,404,347
Ensembl chr11:124,302,289...124,317,346 		JBrowse link
G ESAM endothelial cell adhesion molecule ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:119,580,140...119,589,338
Ensembl chr11:123,495,779...123,504,938 		JBrowse link
G FAM118B family with sequence similarity 118 member B ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:121,025,604...121,076,860
Ensembl chr11:124,936,564...124,988,051 		JBrowse link
G FEZ1 fasciculation and elongation protein zeta 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:120,272,187...120,322,600
Ensembl chr11:124,182,901...124,236,403 		JBrowse link
G FOXRED1 FAD dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:121,083,245...121,096,296
Ensembl chr11:124,993,070...125,005,798 		JBrowse link
G HEPACAM hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:119,746,915...119,764,062
Ensembl chr11:123,663,210...123,678,015 		JBrowse link
G HEPN1 hepatocellular carcinoma, down-regulated 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:119,746,926...119,748,366
Ensembl chr11:123,661,843...123,662,109 		JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:120,703,436...120,716,415 JBrowse link
G LOC100969411 olfactory receptor 10G8 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:118,858,083...118,859,115 JBrowse link
G LOC100969759 olfactory receptor 10G7 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:118,866,310...118,867,475
Ensembl chr11:122,783,013...122,783,948 		JBrowse link
G LOC100970104 olfactory receptor 6T1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:118,771,165...118,772,241
Ensembl chr11:122,688,041...122,689,012 		JBrowse link
G LOC100970443 olfactory receptor 10S1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:118,805,119...118,806,084 JBrowse link
G LOC100971133 olfactory receptor 4D5 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:118,767,919...118,769,000
Ensembl chr11:122,684,788...122,685,744 		JBrowse link
G LOC100971476 olfactory receptor 6M1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:118,633,962...118,635,927
Ensembl chr11:122,552,151...122,553,092 		JBrowse link
G LOC100972169 olfactory receptor 8D4 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:118,734,966...118,736,039
Ensembl chr11:122,651,884...122,652,828 		JBrowse link
G LOC100972492 olfactory receptor 6X1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:118,583,457...118,584,395
Ensembl chr11:122,500,073...122,501,011 		JBrowse link
G LOC100975221 olfactory receptor 8G1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:119,077,808...119,078,937 JBrowse link
G LOC100992664 olfactory receptor 8A1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:119,395,269...119,396,731
Ensembl chr11:123,310,904...123,311,884 		JBrowse link
G LOC100993012 olfactory receptor 8B12 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:119,367,996...119,368,928 JBrowse link
G LOC100994056 olfactory receptor 8B4 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:119,250,801...119,251,733 JBrowse link
G LOC100994750 olfactory receptor 8D2 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:119,159,744...119,160,782
Ensembl chr11:123,075,429...123,076,364 		JBrowse link
G LOC100995418 olfactory receptor 8G5 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:119,099,240...119,100,454
Ensembl chr11:123,015,013...123,016,053 		JBrowse link
G LOC112441186 olfactory receptor 8B3 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:119,223,013...119,224,485 JBrowse link
G MSANTD2 Myb/SANT DNA binding domain containing 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:119,593,493...119,628,962
Ensembl chr11:123,509,696...123,543,184 		JBrowse link
G NRGN neurogranin ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:119,566,934...119,574,248 JBrowse link
G PANX3 pannexin 3 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:119,438,866...119,452,174
Ensembl chr11:123,354,919...123,363,463 		JBrowse link
G PATE1 prostate and testis expressed 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:120,565,280...120,568,857
Ensembl chr11:124,478,417...124,480,839 		JBrowse link
G PATE2 prostate and testis expressed 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:120,595,136...120,703,189
Ensembl chr11:124,509,500...124,510,891 		JBrowse link
G PATE3 prostate and testis expressed 3 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:120,607,720...120,611,235
Ensembl chr11:124,520,239...124,523,719 		JBrowse link
G PATE4 prostate and testis expressed 4 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:120,651,794...120,659,020
Ensembl chr11:124,565,341...124,572,090 		JBrowse link
G PKNOX2 PBX/knotted 1 homeobox 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:119,991,916...120,259,800
Ensembl chr11:124,072,715...124,173,865 		JBrowse link
G PUS3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:120,709,264...120,718,773
Ensembl chr11:124,622,279...124,629,508 		JBrowse link
G ROBO3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:119,692,232...119,708,309
Ensembl chr11:123,607,268...123,623,356 		JBrowse link
G ROBO4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:119,711,023...119,724,701
Ensembl chr11:123,626,063...123,639,837 		JBrowse link
G RPUSD4 RNA pseudouridine synthase D4 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:120,997,815...121,025,558
Ensembl chr11:124,926,910...124,936,621 		JBrowse link
G SCN3B sodium voltage-gated channel beta subunit 3 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:118,460,860...118,486,563
Ensembl chr11:122,377,643...122,403,063 		JBrowse link
G SIAE sialic acid acetylesterase ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:119,463,554...119,503,192
Ensembl chr11:123,378,866...123,416,935 		JBrowse link
G SLC37A2 solute carrier family 37 member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:119,890,340...119,917,731
Ensembl chr11:123,804,677...123,832,326 		JBrowse link
G SPA17 sperm autoantigenic protein 17 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:119,501,604...119,526,103
Ensembl chr11:123,416,725...123,437,818 		JBrowse link
G SRPRA SRP receptor subunit alpha ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:121,071,054...121,083,106
Ensembl chr11:124,987,307...124,993,347 		JBrowse link
G STT3A STT3 oligosaccharyltransferase complex catalytic subunit A ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:120,412,488...120,440,713
Ensembl chr11:124,325,762...124,353,596 		JBrowse link
G TBRG1 transforming growth factor beta regulator 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:119,450,666...119,463,685
Ensembl chr11:123,365,974...123,378,463 		JBrowse link
G TIRAP TIR domain containing adaptor protein ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:121,100,558...121,112,844
Ensembl chr11:125,018,064...125,022,309 		JBrowse link
G TMEM218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:119,924,220...119,938,931
Ensembl chr11:123,839,054...123,843,682 		JBrowse link
G TMEM225 transmembrane protein 225 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:118,711,832...118,715,420
Ensembl chr11:122,628,109...122,631,425 		JBrowse link
G VSIG2 V-set and immunoglobulin domain containing 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:119,573,939...119,579,988
Ensembl chr11:123,490,150...123,495,720 		JBrowse link
G VWA5A von Willebrand factor A domain containing 5A ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:118,943,755...118,974,886
Ensembl chr11:122,860,255...122,891,317 		JBrowse link
G ZNF202 zinc finger protein 202 ISO ClinVar Annotator: match by term: Holoprosencephaly 11 ClinVar PMID:28492532 NCBI chr11:118,554,313...118,572,473
Ensembl chr11:122,470,920...122,488,201 		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 chr16:38,793,212...38,902,686
Ensembl chr16:57,919,283...58,027,472 		JBrowse link
Holoprosencephaly 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SH2D1A SH2 domain containing 1A ISO ClinVar Annotator: match by term: Holoprosencephaly 13, X-linked ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:113,538,321...113,565,468
Ensembl chr  X:123,712,932...123,739,419 		JBrowse link
G STAG2 STAG2 cohesin complex component ISO ClinVar Annotator: match by term: Holoprosencephaly 13, X-linked | ClinVar Annotator: match by term: STAG2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28296084 PMID:28492532 PMID:31334757 NCBI chr  X:113,150,853...113,293,395
Ensembl chr  X:123,389,162...123,472,474 		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:33820834 NCBI chr 3:152,530,928...152,800,963
Ensembl chr 3:160,583,085...160,784,611 		JBrowse link
holoprosencephaly 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NSD1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 2 ClinVar PMID:25741868 PMID:34008892 NCBI chr 5:172,431,968...172,602,174
Ensembl chr 5:179,499,865...179,666,351 		JBrowse link
G SIX2 SIX homeobox 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 2 ClinVar PMID:28492532 PMID:32796691 NCBI chr2A:45,109,414...45,113,887
Ensembl chr2A:46,039,582...46,044,035 		JBrowse link
G SIX3 SIX homeobox 3 ISO ClinVar Annotator: match by term: Holoprosencephaly 2 OMIM
ClinVar		 PMID:10369266 PMID:10923031 PMID:11039582 PMID:14711609 PMID:15221788 More... NCBI chr2A:45,038,634...45,072,867 JBrowse link
holoprosencephaly 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNPY1 canopy FGF signaling regulator 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 7:147,064,075...147,244,735
Ensembl chr 7:158,816,574...158,862,745 		JBrowse link
G DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 7:148,952,823...149,034,578
Ensembl chr 7:160,646,321...160,726,447 		JBrowse link
G EN2 engrailed homeobox 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 7:147,058,349...147,065,038 JBrowse link
G HTR5A 5-hydroxytryptamine receptor 5A ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 7:146,672,908...146,690,001
Ensembl chr 7:158,399,874...158,416,922 		JBrowse link
G INSIG1 insulin induced gene 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 7:146,893,730...146,906,329
Ensembl chr 7:158,619,531...158,632,012 		JBrowse link
G LMBR1 limb development membrane protein 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 7:148,301,263...148,512,407
Ensembl chr 7:159,999,389...160,152,858 		JBrowse link
G MNX1 motor neuron and pancreas homeobox 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 7:148,622,701...148,628,532 JBrowse link
G NCAPG2 non-SMC condensin II complex subunit G2 ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 7:150,441,385...150,513,391
Ensembl chr 7:161,905,762...161,977,093 		JBrowse link
G NOM1 nucleolar protein with MIF4G domain 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 7:148,568,075...148,588,155
Ensembl chr 7:160,262,174...160,282,110 		JBrowse link
G PAXIP1 PAX interacting protein 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 7:146,546,658...146,605,912
Ensembl chr 7:158,276,798...158,330,911 		JBrowse link
G PTPRN2 protein tyrosine phosphatase receptor type N2 ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 7:149,158,513...150,390,077
Ensembl chr 7:160,851,703...161,756,325 		JBrowse link
G RBM33 RNA binding motif protein 33 ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 7:147,244,030...147,380,702
Ensembl chr 7:158,958,099...159,089,137 		JBrowse link
G RNF32 ring finger protein 32 ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 7:148,262,103...148,300,794
Ensembl chr 7:159,956,081...159,992,424 		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 chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651 		JBrowse link
G UBE3C ubiquitin protein ligase E3C ISO ClinVar Annotator: match by term: Holoprosencephaly 3 ClinVar PMID:10631160 PMID:10749657 PMID:16254195 PMID:19603532 PMID:20425842 More... NCBI chr 7:148,756,024...148,886,688
Ensembl chr 7:160,474,767...160,580,046 		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 chr18:9,816,171...10,781,490
Ensembl chr18:12,704,306...13,091,118 		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 chr18:11,368,328...11,435,808
Ensembl chr18:13,678,772...13,743,346 		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 chr18:11,270,941...11,367,312
Ensembl chr18:13,608,883...13,675,165 		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 chr18:10,999,849...11,016,059
Ensembl chr18:13,308,356...13,324,754 		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 chr18:11,057,733...11,215,998
Ensembl chr18:13,368,052...13,523,834 		JBrowse link
G TGIF1 TGFB induced factor homeobox 1 ISO ClinVar Annotator: match by term: Holoprosencephaly 4 OMIM
ClinVar		 PMID:10835638 PMID:11810641 PMID:12522553 PMID:16199538 PMID:16962354 More... NCBI chr18:10,819,015...10,830,282
Ensembl chr18:13,128,359...13,139,145 		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 chr13:76,193,929...76,476,119
Ensembl chr13:95,349,915...95,582,058 		JBrowse link
G BIVM basic, immunoglobulin-like variable motif containing ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:28492532 NCBI chr13:83,959,365...84,002,223
Ensembl chr13:103,096,344...103,174,182 		JBrowse link
G CCDC168 coiled-coil domain containing 168 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:28492532 NCBI chr13:83,891,331...83,921,047
Ensembl chr13:103,027,230...103,056,282 		JBrowse link
G CLDN10 claudin 10 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr13:76,728,572...76,755,685
Ensembl chr13:95,763,980...95,909,161 		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 chr13:80,774,572...81,066,375
Ensembl chr13:99,912,773...100,195,417 		JBrowse link
G DCT dopachrome tautomerase ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr13:75,590,366...75,730,956
Ensembl chr13:94,773,794...94,816,083 		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 chr13:76,853,053...76,963,530
Ensembl chr13:96,033,605...96,114,165 		JBrowse link
G DOCK9 dedicator of cytokinesis 9 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr13:79,964,350...80,256,416
Ensembl chr13:99,106,971...99,325,589 		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 chr13:76,757,062...76,820,627
Ensembl chr13:95,913,144...95,972,799 		JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:28492532 NCBI chr13:84,005,950...84,036,710
Ensembl chr13:103,096,344...103,174,182 		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 chr13:79,300,995...79,615,649
Ensembl chr13:98,522,235...98,761,085 		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 chr13:82,869,491...83,563,099
Ensembl chr13:102,016,568...102,696,330 		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 chr13:81,678,715...81,757,024
Ensembl chr13:100,839,483...100,839,944 		JBrowse link
G GPC5 glypican 5 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr13:72,588,968...74,051,961
Ensembl chr13:91,755,623...93,205,610 		JBrowse link
G GPC6 glypican 6 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr13:74,408,999...75,588,065
Ensembl chr13:93,874,849...94,739,894 		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 chr13:80,423,534...80,427,604
Ensembl chr13:99,562,589...99,563,584 		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 chr13:75,774,879...75,808,210
Ensembl chr13:94,930,349...94,957,032 		JBrowse link
G GPR183 G protein-coupled receptor 183 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19177455 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr13:80,461,908...80,475,046
Ensembl chr13:99,601,220...99,602,305 		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 chr13:77,256,399...77,998,022
Ensembl chr13:96,414,409...97,148,398 		JBrowse link
G IPO5 importin 5 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr13:79,115,320...79,185,598
Ensembl chr13:98,294,766...98,336,700 		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 chr13:82,609,493...82,877,474
Ensembl chr13:101,747,760...102,014,605 		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 chr13:78,301,339...78,555,615
Ensembl chr13:97,591,686...97,711,843 		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 chr13:83,845,572...83,855,215
Ensembl chr13:102,981,536...102,990,336 		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 chr13:82,215,094...82,573,501
Ensembl chr13:101,354,054...101,693,223 		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 chr13:78,145,794...78,154,555 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 chr13:81,259,313...81,699,117
Ensembl chr13:100,390,959...100,837,772 		JBrowse link
G POGLUT2 protein O-glucosyltransferase 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:28492532 NCBI chr13:83,944,645...83,959,313
Ensembl chr13:103,081,650...103,096,378 		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 chr13:78,595,330...78,629,012
Ensembl chr13:97,751,799...97,785,194 		JBrowse link
G RNF113B ring finger protein 113B ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:17274816 PMID:19955556 PMID:28492532 PMID:29770992 NCBI chr13:79,334,230...79,335,713
Ensembl chr13:98,484,810...98,486,285 		JBrowse link
G SLC10A2 solute carrier family 10 member 2 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:28492532 NCBI chr13:84,200,209...84,224,164
Ensembl chr13:103,336,073...103,359,359 		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 chr13:79,855,805...79,902,215
Ensembl chr13:98,998,894...99,065,008 		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 chr13:75,872,786...75,886,125 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 chr13:79,614,662...79,744,772
Ensembl chr13:98,764,900...98,837,807 		JBrowse link
G TEX30 testis expressed 30 ISO ClinVar Annotator: match by term: Holoprosencephaly 5 ClinVar PMID:28492532 NCBI chr13:83,927,705...83,936,447
Ensembl chr13:103,063,419...103,071,173 		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 chr13:75,747,686...75,770,010
Ensembl chr13:94,903,511...94,925,637 		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 chr13:80,669,277...80,731,340
Ensembl chr13:99,807,555...99,869,456 		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 chr13:81,771,668...81,841,926
Ensembl chr13:100,910,277...100,976,164 		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 chr13:83,756,757...83,838,997
Ensembl chr13:102,892,037...102,974,974 		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 chr13:80,370,475...80,554,055
Ensembl chr13:99,509,508...99,692,537 		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 chr13:76,970,139...77,219,241
Ensembl chr13:96,124,714...96,377,116 		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:15590697 PMID:17274816 More... NCBI chr13:81,151,669...81,156,648 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 chr13:81,132,841...81,149,539 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 chr 1:198,488,047...198,679,013
Ensembl chr 1:203,628,338...203,692,218 		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 chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453 		JBrowse link
holoprosencephaly 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Cerebellar cyst ClinVar PMID:16909394 PMID:17345604 PMID:17564967 PMID:17705300 PMID:19466712 More... NCBI chr12:85,589,911...85,683,365
Ensembl chr12:88,896,146...88,988,044 		JBrowse link
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 chr2B:7,665,403...7,922,840
Ensembl chr2B:121,303,831...121,497,442 		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: Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate OMIM
ClinVar		 PMID:11173846 PMID:14513299 PMID:15605412 PMID:15793702 PMID:16757108 More... NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904 		JBrowse link
Joubert Syndrome 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF7 kinesin family member 7 ISO ClinVar Annotator: match by term: Joubert syndrome 12 ClinVar PMID:21633164 PMID:22246503 NCBI chr15:68,312,064...68,349,864
Ensembl chr15:87,529,290...87,553,445 		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:10441340 PMID:10749977 PMID:11175293 More... NCBI chr  X:100,411,871...100,529,833
Ensembl chr  X:110,875,032...110,988,582 		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 OMIM
ClinVar		 PMID:25741868 PMID:31924697 NCBI chr14:2,169,169...2,201,911
Ensembl chr14:20,247,325...20,280,074 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LNP1 leukemia NUP98 fusion partner 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum ClinVar NCBI chr 3:97,497,304...97,552,052
Ensembl chr 3:104,177,210...104,231,901 		JBrowse link
G LNPK lunapark, ER junction formation factor ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum OMIM
ClinVar		 PMID:25741868 PMID:30032983 NCBI chr2B:63,197,335...63,279,473
Ensembl chr2B:180,909,968...180,989,448 		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: Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum OMIM
ClinVar		 PMID:25741868 PMID:36401616 NCBI chr12:109,756,303...109,978,510
Ensembl chr12:113,151,017...113,311,809 		JBrowse link
Partial Agenesis of Corpus Callosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCC DCC netrin 1 receptor ISO ClinVar Annotator: match by term: Partial agenesis of the corpus callosum ClinVar PMID:25741868 NCBI chr18:45,717,924...46,913,998
Ensembl chr18:49,268,812...50,255,155 		JBrowse link
G SHH sonic hedgehog signaling molecule ISO ClinVar Annotator: match by term: Partial agenesis of the corpus callosum ClinVar NCBI chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651 		JBrowse link
G TAF8 TATA-box binding protein associated factor 8 ISO ClinVar Annotator: match by term: Partial agenesis of corpus callosum ClinVar PMID:25741868 PMID:29648665 PMID:35759269 NCBI chr 6:41,631,483...41,672,988
Ensembl chr 6:42,933,107...42,978,271 		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 chr  X:143,412,303...143,437,090
Ensembl chr  X:153,298,690...153,324,228 		JBrowse link
spastic tetraplegia, thin corpus callosum, and progressive microcephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC1A4 solute carrier family 1 member 4 ISO ClinVar Annotator: match by term: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly OMIM
ClinVar		 PMID:2837306 PMID:25741868 PMID:25930971 PMID:26041762 PMID:26138499 More... NCBI chr2A:65,051,025...65,086,917
Ensembl chr2A:66,176,925...66,209,615 		JBrowse link
Temtamy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2ML1 alpha-2-macroglobulin like 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:8,909,111...8,961,857
Ensembl chr12:9,122,447...9,192,371 		JBrowse link
G ACRBP acrosin binding protein ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,768,971...6,778,613
Ensembl chr12:6,685,963...6,695,344 		JBrowse link
G ACSM4 acyl-CoA synthetase medium chain family member 4 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,448,372...7,474,634
Ensembl chr12:7,613,474...7,637,536 		JBrowse link
G AICDA activation induced cytidine deaminase ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:8,688,392...8,699,008
Ensembl chr12:8,904,273...8,913,917 		JBrowse link
G APOBEC1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,777,734...7,793,960
Ensembl chr12:7,939,262...7,944,203 		JBrowse link
G ATN1 atrophin 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,057,430...7,071,767
Ensembl chr12:6,978,576...6,990,580 		JBrowse link
G C10H12orf57 chromosome 10 C12orf57 homolog ISO ClinVar Annotator: match by term: Temtamy syndrome OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21937992 PMID:23453665 More... NCBI chr12:7,073,251...7,075,408
Ensembl chr12:6,978,576...6,990,580 		JBrowse link
G C1R complement C1r ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,211,162...7,222,673
Ensembl chr12:7,126,723...7,137,895 		JBrowse link
G C1RL complement C1r subcomponent like ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,224,675...7,239,524
Ensembl chr12:7,139,094...7,155,196 		JBrowse link
G C1S complement C1s ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,191,679...7,202,036
Ensembl chr12:7,106,157...7,117,614 		JBrowse link
G C3AR1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:8,178,064...8,186,206
Ensembl chr12:8,220,933...8,222,381 		JBrowse link
G CD163 CD163 molecule ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,616,714...7,649,768
Ensembl chr12:7,775,343...7,810,023 		JBrowse link
G CD163L1 CD163 molecule like 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,497,261...7,590,057
Ensembl chr12:7,656,113...7,749,646 		JBrowse link
G CD27 CD27 molecule ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,575,104...6,582,127
Ensembl chr12:6,492,119...6,499,427 		JBrowse link
G CD4 CD4 molecule ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,920,587...6,951,814
Ensembl chr12:6,834,011...6,864,204 		JBrowse link
G CDCA3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,980,656...6,983,796
Ensembl chr12:6,890,095...6,895,364 		JBrowse link
G CHD4 chromodomain helicase DNA binding protein 4 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,701,004...6,738,621
Ensembl chr12:6,619,089...6,656,076 		JBrowse link
G CLEC4A C-type lectin domain family 4 member A ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:8,242,240...8,257,860
Ensembl chr12:8,285,174...8,300,029 		JBrowse link
G CLEC4C C-type lectin domain family 4 member C ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,852,796...7,873,559
Ensembl chr12:8,012,508...8,030,370 		JBrowse link
G CLEC4D C-type lectin domain family 4 member D ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:8,599,654...8,608,494
Ensembl chr12:8,814,680...8,823,484 		JBrowse link
G CLEC4E C-type lectin domain family 4 member E ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:8,620,618...8,627,610 JBrowse link
G CLEC6A C-type lectin domain containing 6A ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:8,537,766...8,560,736
Ensembl chr12:8,752,778...8,775,738 		JBrowse link
G CLSTN3 calsyntenin 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,260,361...7,288,903
Ensembl chr12:7,175,951...7,204,526 		JBrowse link
G COPS7A COP9 signalosome subunit 7A ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,856,119...6,863,999
Ensembl chr12:6,770,675...6,778,199 		JBrowse link
G DPPA3 developmental pluripotency associated 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,834,298...7,841,064 JBrowse link
G EMG1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,102,619...7,108,594
Ensembl chr12:7,018,291...7,023,807 		JBrowse link
G ENO2 enolase 2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,043,807...7,053,178
Ensembl chr12:6,958,960...6,968,342 		JBrowse link
G FAM90A1 family with sequence similarity 90 member A1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:8,343,013...8,346,624 JBrowse link
G FOXJ2 forkhead box J2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:8,152,037...8,175,291
Ensembl chr12:8,194,519...8,217,778 		JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,665,218...6,669,170
Ensembl chr12:6,583,895...6,587,729 		JBrowse link
G GDF3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,813,288...7,819,418
Ensembl chr12:7,972,907...7,979,815 		JBrowse link
G GNB3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,971,854...6,979,214
Ensembl chr12:6,883,280...6,890,692 		JBrowse link
G GPR162 G protein-coupled receptor 162 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,952,556...6,958,414
Ensembl chr12:6,864,927...6,870,797 		JBrowse link
G IFFO1 intermediate filament family orphan 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,670,415...6,686,972
Ensembl chr12:6,588,975...6,605,262 		JBrowse link
G ING4 inhibitor of growth family member 4 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,782,402...6,795,035
Ensembl chr12:6,698,843...6,710,955 		JBrowse link
G LAG3 lymphocyte activating 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,903,770...6,909,778
Ensembl chr12:6,817,507...6,823,047 		JBrowse link
G LPAR5 lysophosphatidic acid receptor 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,749,957...6,767,221
Ensembl chr12:6,668,991...6,670,109 		JBrowse link
G LPCAT3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,107,925...7,149,982
Ensembl chr12:7,024,015...7,065,945 		JBrowse link
G LRRC23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,033,989...7,043,704
Ensembl chr12:6,948,809...6,958,880 		JBrowse link
G LTBR lymphotoxin beta receptor ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,514,432...6,521,966
Ensembl chr12:6,422,470...6,438,510 		JBrowse link
G MFAP5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:8,731,893...8,746,850
Ensembl chr12:8,944,872...8,961,876 		JBrowse link
G MLF2 myeloid leukemia factor 2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,879,347...6,898,785
Ensembl chr12:6,793,045...6,798,715 		JBrowse link
G MRPL51 mitochondrial ribosomal protein L51 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,622,334...6,623,502
Ensembl chr12:6,539,516...6,540,959 		JBrowse link
G NANOG Nanog homeobox ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,913,037...7,919,715 JBrowse link
G NANOGNB NANOG neighbor homeobox ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,888,876...7,897,769 JBrowse link
G NCAPD2 non-SMC condensin I complex subunit D2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,623,568...6,662,741
Ensembl chr12:6,540,750...6,580,206 		JBrowse link
G NECAP1 NECAP endocytosis associated 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:8,201,908...8,217,043
Ensembl chr12:8,243,785...8,282,647 		JBrowse link
G NOP2 NOP2 nucleolar protein ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,687,763...6,699,234
Ensembl chr12:6,606,036...6,617,260 		JBrowse link
G P3H3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,960,193...6,971,691
Ensembl chr12:6,872,035...6,883,187 		JBrowse link
G PEX5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,318,637...7,340,428
Ensembl chr12:7,235,049...7,255,815 		JBrowse link
G PHB2 prohibitin 2 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,097,073...7,102,474
Ensembl chr12:7,013,195...7,018,053 		JBrowse link
G PIANP PILR alpha associated neural protein ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,824,377...6,832,971
Ensembl chr12:6,742,251...6,748,741 		JBrowse link
G PTMS parathymosin ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,897,502...6,902,257
Ensembl chr12:6,814,264...6,815,101 		JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,075,879...7,093,041
Ensembl chr12:6,991,099...7,008,830 		JBrowse link
G RBP5 retinol binding protein 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,253,922...7,261,145
Ensembl chr12:7,169,592...7,175,800 		JBrowse link
G RIMKLB ribosomal modification protein rimK like family member B ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:8,752,509...8,869,226
Ensembl chr12:8,999,423...9,077,179 		JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,475,723...6,506,443 JBrowse link
G SLC2A14 solute carrier family 2 member 14 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:7,936,348...8,014,318
Ensembl chr12:8,094,327...8,113,460 		JBrowse link
G SLC2A3 solute carrier family 2 member 3 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:8,045,058...8,062,116
Ensembl chr12:8,408,457...8,423,466 		JBrowse link
G TAPBPL TAP binding protein like ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,582,266...6,592,762
Ensembl chr12:6,499,429...6,509,844 		JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613 		JBrowse link
G TPI1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,999,275...7,002,678
Ensembl chr12:6,910,813...6,913,612 		JBrowse link
G USP5 ubiquitin specific peptidase 5 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,983,941...6,998,469
Ensembl chr12:6,895,416...6,909,936 		JBrowse link
G VAMP1 vesicle associated membrane protein 1 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,592,688...6,601,317
Ensembl chr12:6,509,762...6,518,459 		JBrowse link
G ZNF384 zinc finger protein 384 ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr12:6,798,264...6,821,705
Ensembl chr12:6,714,248...6,738,018 		JBrowse link
G ZNF705A zinc finger protein 705A ISO ClinVar Annotator: match by term: Temtamy syndrome ClinVar PMID:28492532 NCBI chr 8:11,570,038...11,577,621 JBrowse link
Vici syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARK2C arkadia (RNF111) C-terminal like ring finger ubiquitin ligase 2C ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:39,615,759...39,742,492
Ensembl chr18:43,244,066...43,274,212 		JBrowse link
G ARK2N arkadia (RNF111) N-terminal like PKA signaling regulator 2N ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:39,455,256...39,548,926
Ensembl chr18:42,990,152...43,082,789 		JBrowse link
G ATP5F1A ATP synthase F1 subunit alpha ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:39,366,384...39,380,514
Ensembl chr18:42,904,136...42,923,326 		JBrowse link
G ELOA2 elongin A2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:40,418,709...40,422,812 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 chr18:39,129,678...39,250,418
Ensembl chr18:42,669,223...42,788,788 		JBrowse link
G HAUS1 HAUS augmin like complex subunit 1 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:39,386,522...39,409,747
Ensembl chr18:42,922,570...42,945,766 		JBrowse link
G HDHD2 haloacid dehalogenase like hydrolase domain containing 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:40,495,385...40,538,527
Ensembl chr18:43,855,696...43,898,765 		JBrowse link
G IER3IP1 immediate early response 3 interacting protein 1 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:40,543,039...40,564,372
Ensembl chr18:43,903,315...43,924,901 		JBrowse link
G KATNAL2 katanin catalytic subunit A1 like 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:40,196,170...40,492,175
Ensembl chr18:43,758,249...43,850,517 		JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:39,756,531...39,936,317
Ensembl chr18:43,290,579...43,469,921 		JBrowse link
G PIAS2 protein inhibitor of activated STAT 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:40,067,901...40,196,078
Ensembl chr18:43,622,455...43,728,675 		JBrowse link
G PSTPIP2 proline-serine-threonine phosphatase interacting protein 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:39,265,559...39,364,422
Ensembl chr18:42,804,773...42,892,493 		JBrowse link
G SETBP1 SET binding protein 1 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:37,963,089...38,350,092
Ensembl chr18:41,524,998...41,885,453 		JBrowse link
G SIGLEC15 sialic acid binding Ig like lectin 15 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:39,111,697...39,125,631
Ensembl chr18:42,658,534...42,663,773 		JBrowse link
G SKOR2 SKI family transcriptional corepressor 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:40,594,124...40,639,720 JBrowse link
G SLC14A1 solute carrier family 14 member 1 (Kidd blood group) ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:39,007,475...39,035,489
Ensembl chr18:42,550,210...42,575,723 		JBrowse link
G SLC14A2 solute carrier family 14 member 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:38,766,994...38,966,124
Ensembl chr18:42,448,067...42,506,485 		JBrowse link
G SMAD2 SMAD family member 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:41,213,001...41,309,902
Ensembl chr18:44,580,905...44,668,530 		JBrowse link
G ST8SIA5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:39,958,239...40,036,282
Ensembl chr18:43,492,025...43,569,857 		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 chr  X:41,413,165...41,423,780
Ensembl chr  X:49,267,657...49,278,495 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Pathological Conditions, Signs and Symptoms 12035
      Anatomical Pathological Conditions 2475
        Agenesis of Corpus Callosum 369
          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 1
          Calloso-Genital Dysplasia 0
          Chudley-Mccullough syndrome 2
          Curatolo Cilio Pessagno Syndrome 0
          Donnai-Barrow syndrome 2
          Duker Weiss Siber syndrome 0
          FG syndrome + 15
          Faye-Petersen Ward Carey Syndrome 0
          GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES 1
          Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum 0
          Kozlowski Ouvrier Syndrome 0
          Lissencephaly and Agenesis of Corpus Callosum 1
          Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps 0
          Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 0
          NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM 2
          NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM 1
          Partial Agenesis of Corpus Callosum + 4
          Recurrent Spontaneous Hypothermia with Hypoplasia of the Corpus Callosum 0
          Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 0
          Saal Bulas Syndrome 0
          Sakoda Complex 0
          Shapiro Syndrome 0
          Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 0
          Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 0
          Temtamy syndrome 66
          Vici syndrome 19
          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 1
          corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 1
          hereditary spastic paraplegia 11 10
          holoprosencephaly + 211
          neurodevelopmental disorder with dysmorphic facies and thin corpus callosum 1
          spastic tetraplegia, thin corpus callosum, and progressive microcephaly 1
Path 2
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        Congenital Abnormalities 7500
          Nervous System Malformations 2357
            Agenesis of Corpus Callosum 369
              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 1
              Calloso-Genital Dysplasia 0
              Chudley-Mccullough syndrome 2
              Curatolo Cilio Pessagno Syndrome 0
              Donnai-Barrow syndrome 2
              Duker Weiss Siber syndrome 0
              FG syndrome + 15
              Faye-Petersen Ward Carey Syndrome 0
              GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES 1
              Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum 0
              Kozlowski Ouvrier Syndrome 0
              Lissencephaly and Agenesis of Corpus Callosum 1
              Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps 0
              Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 0
              NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM 2
              NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM 1
              Partial Agenesis of Corpus Callosum + 4
              Recurrent Spontaneous Hypothermia with Hypoplasia of the Corpus Callosum 0
              Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 0
              Saal Bulas Syndrome 0
              Sakoda Complex 0
              Shapiro Syndrome 0
              Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 0
              Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 0
              Temtamy syndrome 66
              Vici syndrome 19
              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 1
              corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 1
              hereditary spastic paraplegia 11 10
              holoprosencephaly + 211
              neurodevelopmental disorder with dysmorphic facies and thin corpus callosum 1
              spastic tetraplegia, thin corpus callosum, and progressive microcephaly 1
paths to the root