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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Abnormal cerebral ventricle morphology
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Accession:HP:0002118 term browser browse the term
Definition:Any structural abnormality of the cerebral ventricles.
Synonyms:exact_synonym: Abnormality of the cerebral ventricles
 xref: UMLS:C4025724


show annotations for term's descendants           Sort by:
Abnormal lateral ventricle morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACP5 acid phosphatase 5, tartrate resistant IAGP HPO ORPHA:1855 NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993 		JBrowse link
G ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit IAGP HPO ORPHA:324422 NCBI chr  X:111,681,170...111,760,649
Ensembl chr  X:111,665,811...111,760,649 		JBrowse link
G CREBBP CREB binding protein IAGP HPO ORPHA:353277 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G EP300 E1A binding protein p300 IAGP HPO ORPHA:353284 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,091,816...41,180,077 		JBrowse link
G PIGG phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) IAGP HPO ORPHA:488635 NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200 		JBrowse link
Aqueductal stenosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP1S2 adaptor related protein complex 1 subunit sigma 2 IAGP HPO PMID:17617514 MIM:304340 NCBI chr  X:15,825,806...15,854,813
Ensembl chr  X:15,825,806...15,854,931 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO ORPHA:138 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G CLCN3 chloride voltage-gated channel 3 IAGP HPO PMID:34186028 MIM:619512 NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,438...169,723,673 		JBrowse link
G DONSON DNA replication fork stabilization factor DONSON IAGP HPO PMID:28191891 MIM:251230 NCBI chr21:33,577,551...33,588,684
Ensembl chr21:33,559,542...33,589,015 		JBrowse link
G FANCB FA complementation group B IAGP HPO ORPHA:3412 NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:93258 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO ORPHA:93258 ORPHA:93259 ORPHA:93260 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G GON7 GON7 subunit of KEOPS complex IAGP HPO ORPHA:2065 NCBI chr14:93,202,894...93,207,065
Ensembl chr14:93,202,890...93,207,068 		JBrowse link
G IFT56 intraflagellar transport 56 IAGP HPO PMID:34177428 MIM:619534 NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986 		JBrowse link
G L1CAM L1 cell adhesion molecule IAGP HPO PMID:1870106 MIM:307000 ORPHA:2182 NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,511...153,886,204 		JBrowse link
G LAGE3 L antigen family member 3 IAGP HPO ORPHA:2065 NCBI chr  X:154,477,775...154,479,281
Ensembl chr  X:154,477,775...154,479,281 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO MIM:162200 NCBI chr17:31,094,977...31,377,675
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G NUP107 nucleoporin 107 IAGP HPO ORPHA:2065 NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809 		JBrowse link
G NUP133 nucleoporin 133 IAGP HPO ORPHA:2065 NCBI chr 1:229,440,259...229,508,341
Ensembl chr 1:229,440,259...229,508,356 		JBrowse link
G OSGEP O-sialoglycoprotein endopeptidase IAGP HPO ORPHA:2065 NCBI chr14:20,446,401...20,454,812
Ensembl chr14:20,446,401...20,455,089 		JBrowse link
G PLCH1 phospholipase C eta 1 IAGP HPO PMID:33820834 MIM:619895 NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,085 		JBrowse link
G POLR1A RNA polymerase I subunit A IAGP HPO PMID:37075751 MIM:616462 NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155 		JBrowse link
G ROBO1 roundabout guidance receptor 1 IAGP HPO PMID:35227688 MIM:620305 NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998 		JBrowse link
G SEMA3E semaphorin 3E IAGP HPO ORPHA:138 NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139 		JBrowse link
G SF3B4 splicing factor 3b subunit 4 IAGP HPO MIM:154400 ORPHA:1788 NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803 		JBrowse link
G SLC12A6 solute carrier family 12 member 6 IAGP HPO ORPHA:1496 NCBI chr15:34,229,784...34,338,057
Ensembl chr15:34,229,784...34,338,060 		JBrowse link
G SMARCC1 SWI/SNF related BAF chromatin remodeling complex subunit C1 IAGP HPO PMID:29983323 MIM:620241 NCBI chr 3:47,585,269...47,781,893
Ensembl chr 3:47,585,269...47,782,106 		JBrowse link
G TP53RK TP53 regulating kinase IAGP HPO ORPHA:2065 NCBI chr20:46,684,365...46,689,444
Ensembl chr20:46,684,365...46,689,444 		JBrowse link
G TPRKB TP53RK binding protein IAGP HPO ORPHA:2065 NCBI chr 2:73,729,873...73,737,345
Ensembl chr 2:73,729,104...73,737,421 		JBrowse link
G WDR4 WD repeat domain 4 IAGP HPO ORPHA:2065 NCBI chr21:42,843,094...42,892,998
Ensembl chr21:42,843,013...42,879,582 		JBrowse link
G WDR73 WD repeat domain 73 IAGP HPO ORPHA:2065 NCBI chr15:84,639,285...84,654,283
Ensembl chr15:84,639,285...84,654,343 		JBrowse link
G YRDC yrdC N6-threonylcarbamoyltransferase domain containing IAGP HPO ORPHA:2065 NCBI chr 1:37,802,945...37,808,208
Ensembl chr 1:37,802,945...37,808,208 		JBrowse link
G ZIC3 Zic family member 3 IAGP HPO PMID:21465648 MIM:306955 NCBI chr  X:137,566,127...137,577,691
Ensembl chr  X:137,563,314...137,577,691 		JBrowse link
Choroid plexus calcification term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTSC cathepsin C IAGP HPO MIM:245000 NCBI chr11:88,293,592...88,337,736
Ensembl chr11:88,265,069...88,359,684 		JBrowse link
G GNAS GNAS complex locus IAGP HPO MIM:103580 MIM:612462 ORPHA:79443 ORPHA:79444 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
Choroid plexus carcinoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP HPO ORPHA:524 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G CHEK2 checkpoint kinase 2 IAGP HPO ORPHA:524 NCBI chr22:28,687,742...28,741,834
Ensembl chr22:28,687,738...28,742,422 		JBrowse link
G FOXO3 forkhead box O3 IAGP ClinVar Annotator: match by term: Choroid plexus carcinoma ClinVar PMID:26822237 NCBI chr 6:108,559,825...108,684,774
Ensembl chr 6:108,559,652...108,684,774 		JBrowse link
G MDM2 MDM2 proto-oncogene IAGP HPO ORPHA:524 NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,175...68,845,544 		JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP ClinVar Annotator: match by term: Choroid plexus carcinoma ClinVar PMID:26822237 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,546...29,698,598 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP ClinVar Annotator: match by term: Choroid plexus carcinoma ClinVar PMID:26822237 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,787...177,300,213 		JBrowse link
G SMARCB1 SWI/SNF related BAF chromatin remodeling complex subunit B1 IAGP HPO MIM:609322 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Choroid plexus carcinoma ClinVar
HPO		 PMID:1631137 PMID:1978757 PMID:8062826 PMID:8099841 PMID:8425176 More... MIM:202300 ORPHA:524 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
Choroid plexus cyst term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EXOC8 exocyst complex component 8 IAGP HPO PMID:32103185 MIM:619076 NCBI chr 1:231,332,753...231,337,852
Ensembl chr 1:231,332,753...231,337,852 		JBrowse link
G FH fumarate hydratase IAGP HPO MIM:606812 NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799 		JBrowse link
G FOXF1 forkhead box F1 IAGP HPO PMID:27071622 MIM:265380 NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422 		JBrowse link
G IFT43 intraflagellar transport 43 IAGP HPO PMID:28400947 MIM:617866 NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585 		JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase IAGP HPO PMID:27694961 MIM:617201 NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,050...58,401,540 		JBrowse link
G NPHP3 nephrocystin 3 IAGP HPO PMID:18371931 MIM:267010 NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase IAGP HPO MIM:256520 NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,227 		JBrowse link
G SETBP1 SET binding protein 1 IAGP HPO ORPHA:798 NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510 		JBrowse link
G ZBTB18 zinc finger and BTB domain containing 18 IAGP HPO PMID:24193349 MIM:612337 NCBI chr 1:244,048,491...244,057,476
Ensembl chr 1:244,048,547...244,057,476 		JBrowse link
G ZFX zinc finger protein X-linked IAGP HPO PMID:38325380 MIM:301118 NCBI chr  X:24,148,982...24,216,255
Ensembl chr  X:24,148,976...24,216,255 		JBrowse link
G ZSWIM6 zinc finger SWIM-type containing 6 IAGP HPO PMID:25105228 MIM:603671 ORPHA:1827 NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172 		JBrowse link
Choroid plexus papilloma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NRAS NRAS proto-oncogene, GTPase IAGP HPO MIM:249400 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Choroid plexus papilloma ClinVar
HPO		 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 More... MIM:260500 ORPHA:2807 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
Colpocephaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACBD6 acyl-CoA binding domain containing 6 IAGP HPO PMID:37951597 MIM:620785 NCBI chr 1:180,269,653...180,502,577
Ensembl chr 1:180,269,653...180,502,954 		JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 IAGP HPO ORPHA:261250 NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,619...89,490,561 		JBrowse link
G ARSI arylsulfatase family member I IAGP HPO ORPHA:401815 NCBI chr 5:150,296,343...150,302,905
Ensembl chr 5:150,296,343...150,339,307 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP ClinVar Annotator: match by term: Colpocephaly ClinVar PMID:16199547 PMID:23225343 PMID:25741868 PMID:28492532 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202 		JBrowse link
G COX7B cytochrome c oxidase subunit 7B IAGP HPO MIM:309801 NCBI chr  X:77,899,468...77,907,376
Ensembl chr  X:77,895,727...77,907,376 		JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO ORPHA:397715 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,381...67,196,778 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP HPO PMID:23918729 MIM:270400 NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868 		JBrowse link
G DHX37 DEAH-box helicase 37 IAGP HPO PMID:31256877 MIM:618731 NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,133 		JBrowse link
G DNM1 dynamin 1 IAGP HPO PMID:34172529 MIM:620352 NCBI chr 9:128,203,379...128,255,244
Ensembl chr 9:128,191,655...128,255,248 		JBrowse link
G ERMARD ER membrane associated RNA degradation IAGP HPO ORPHA:75857 NCBI chr 6:169,751,306...169,781,600
Ensembl chr 6:169,751,567...169,781,600 		JBrowse link
G ESAM endothelial cell adhesion molecule IAGP HPO PMID:36996813 MIM:620371 NCBI chr11:124,753,126...124,762,290
Ensembl chr11:124,752,583...124,762,315 		JBrowse link
G FANCI FA complementation group I IAGP HPO PMID:26590883 MIM:609053 NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,854...89,318,091 		JBrowse link
G FRA10AC1 FRA10A associated CGG repeat 1 IAGP HPO PMID:34694367 MIM:620113 NCBI chr10:93,667,883...93,702,959
Ensembl chr10:93,667,883...93,703,294 		JBrowse link
G HCCS holocytochrome c synthase IAGP HPO MIM:309801 NCBI chr  X:11,111,332...11,123,086
Ensembl chr  X:11,111,299...11,123,086 		JBrowse link
G HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 IAGP HPO PMID:29938792 MIM:620083 NCBI chr 5:179,614,178...179,634,784
Ensembl chr 5:179,614,170...179,634,784 		JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP HPO PMID:22265014 MIM:606170 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,912...75,032,631 		JBrowse link
G KDM1A lysine demethylase 1A IAGP HPO ORPHA:477993 NCBI chr 1:23,019,468...23,083,689
Ensembl chr 1:23,019,395...23,083,693 		JBrowse link
G KIAA0586 KIAA0586 IAGP HPO ORPHA:397715 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G KIF26A kinesin family member 26A IAGP HPO PMID:36228617 MIM:620156 NCBI chr14:104,138,587...104,180,894
Ensembl chr14:104,136,454...104,180,894 		JBrowse link
G MPDZ multiple PDZ domain crumbs cell polarity complex component IAGP HPO MIM:615219 NCBI chr 9:13,105,707...13,279,692
Ensembl chr 9:13,104,620...13,279,790 		JBrowse link
G NADK2 NAD kinase 2, mitochondrial IAGP HPO PMID:27940755 MIM:616034 NCBI chr 5:36,192,589...36,242,279
Ensembl chr 5:36,192,589...36,242,279 		JBrowse link
G NCAPG2 non-SMC condensin II complex subunit G2 IAGP HPO PMID:30609410 MIM:618460 NCBI chr 7:158,631,169...158,704,804
Ensembl chr 7:158,628,224...158,704,825 		JBrowse link
G NDE1 nudE neurodevelopment protein 1 IAGP HPO PMID:21529751 MIM:614019 NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691 		JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 IAGP HPO MIM:309801 NCBI chr  X:47,142,216...47,145,491
Ensembl chr  X:47,142,071...47,145,466 		JBrowse link
G NRCAM neuronal cell adhesion molecule IAGP HPO PMID:35108495 MIM:619833 NCBI chr 7:108,147,649...108,456,720
Ensembl chr 7:108,147,623...108,456,717 		JBrowse link
G PEX10 peroxisomal biogenesis factor 10 IAGP HPO MIM:614870 NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797 		JBrowse link
G PEX2 peroxisomal biogenesis factor 2 IAGP HPO PMID:14630978 MIM:614866 NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044 		JBrowse link
G PLXNA1 plexin A1 IAGP HPO PMID:34054129 MIM:619955 NCBI chr 3:126,983,115...127,037,389
Ensembl chr 3:126,982,693...127,037,389 		JBrowse link
G PPP1R12A protein phosphatase 1 regulatory subunit 12A IAGP HPO PMID:31883643 MIM:618820 NCBI chr12:79,773,563...79,935,460
Ensembl chr12:79,773,563...79,935,460 		JBrowse link
G RNU4-2 RNA, U4 small nuclear 2 IAGP HPO PMID:39369315 MIM:620851 NCBI chr12:120,291,759...120,291,903
Ensembl chr12:120,291,759...120,291,903 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO PMID:21474761 MIM:210710 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,880...121,531,009 		JBrowse link
G SEC31A SEC31 homolog A, COPII coat complex component IAGP HPO PMID:30464055 MIM:618651 NCBI chr 4:82,818,509...82,900,569
Ensembl chr 4:82,818,081...82,901,166 		JBrowse link
G SRPK3 SRSF protein kinase 3 IAGP HPO PMID:39073169 MIM:301134 NCBI chr  X:153,781,041...153,785,730
Ensembl chr  X:153,781,001...153,785,768 		JBrowse link
G STAG2 STAG2 cohesin complex component IAGP HPO PMID:31334757 MIM:301043 NCBI chr  X:123,960,560...124,102,656
Ensembl chr  X:123,960,212...124,422,664 		JBrowse link
G TUBA8 tubulin alpha 8 IAGP HPO ORPHA:250972 NCBI chr22:18,110,809...18,131,732
Ensembl chr22:18,110,100...18,146,683 		JBrowse link
G ZNF148 zinc finger protein 148 IAGP HPO PMID:27964749 MIM:617260 NCBI chr 3:125,225,669...125,375,354
Ensembl chr 3:125,225,669...125,375,842 		JBrowse link
G ZNF462 zinc finger protein 462 IAGP HPO PMID:31361404 MIM:618619 NCBI chr 9:106,860,158...107,013,634
Ensembl chr 9:106,862,286...107,013,634 		JBrowse link
Communicating hydrocephalus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4GAT1 beta-1,4-glucuronyltransferase 1 IAGP HPO PMID:23359570 MIM:615287 NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,638 		JBrowse link
G CDC42BPB CDC42 binding protein kinase beta IAGP HPO PMID:32031333 MIM:619841 NCBI chr14:102,932,380...103,057,549
Ensembl chr14:102,932,380...103,057,549 		JBrowse link
G CDCA7 cell division cycle associated 7 IAGP HPO ORPHA:2268 NCBI chr 2:173,354,872...173,368,997
Ensembl chr 2:173,354,820...173,368,997 		JBrowse link
G CRTAP cartilage associated protein IAGP HPO ORPHA:2050 NCBI chr 3:33,114,014...33,147,773
Ensembl chr 3:33,113,956...33,147,773 		JBrowse link
G DLG5 discs large MAGUK scaffold protein 5 IAGP HPO PMID:30791088 PMID:32631816 MIM:620703 NCBI chr10:77,790,791...77,940,736
Ensembl chr10:77,790,778...77,927,220 		JBrowse link
G DNAI1 dynein axonemal intermediate chain 1 IAGP HPO MIM:244400 NCBI chr 9:34,458,805...34,520,984
Ensembl chr 9:34,457,414...34,520,988 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta IAGP HPO ORPHA:2268 NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO ORPHA:2462 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase IAGP HPO ORPHA:25 NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,128...12,915,126 		JBrowse link
G HELLS helicase, lymphoid specific IAGP HPO ORPHA:2268 NCBI chr10:94,545,788...94,613,905
Ensembl chr10:94,545,329...94,613,905 		JBrowse link
G HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 IAGP HPO PMID:26138117 MIM:617011 ORPHA:457359 NCBI chr15:63,608,618...63,833,948
Ensembl chr15:63,608,618...63,833,948 		JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 IAGP HPO ORPHA:309282 NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,643,831...12,666,762 		JBrowse link
G MPDZ multiple PDZ domain crumbs cell polarity complex component IAGP HPO MIM:615219 NCBI chr 9:13,105,707...13,279,692
Ensembl chr 9:13,104,620...13,279,790 		JBrowse link
G P4HB prolyl 4-hydroxylase subunit beta IAGP HPO PMID:25683117 MIM:112240 ORPHA:2050 NCBI chr17:81,843,166...81,860,535
Ensembl chr17:81,843,159...81,860,856 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:2969 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G RNU4-2 RNA, U4 small nuclear 2 IAGP HPO PMID:38991538 MIM:620851 NCBI chr12:120,291,759...120,291,903
Ensembl chr12:120,291,759...120,291,903 		JBrowse link
G SEC24D SEC24 homolog D, COPII coat complex component IAGP HPO ORPHA:2050 NCBI chr 4:118,722,823...118,836,126
Ensembl chr 4:118,722,822...118,838,683 		JBrowse link
G SKI SKI proto-oncogene IAGP HPO ORPHA:2462 NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 IAGP HPO ORPHA:168577 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893 		JBrowse link
G TRIM71 tripartite motif containing 71 IAGP HPO PMID:29983323 MIM:618667 NCBI chr 3:32,817,997...32,897,824
Ensembl chr 3:32,817,526...32,897,824 		JBrowse link
G TRNT1 tRNA nucleotidyl transferase 1 IAGP HPO PMID:23553769 MIM:616084 NCBI chr 3:3,126,940...3,153,435
Ensembl chr 3:3,126,364...3,153,435 		JBrowse link
G TRPV6 transient receptor potential cation channel subfamily V member 6 IAGP HPO PMID:29861107 MIM:618188 NCBI chr 7:142,871,208...142,885,745
Ensembl chr 7:142,871,208...142,885,745 		JBrowse link
G UHRF1 ubiquitin like with PHD and ring finger domains 1 IAGP HPO ORPHA:2268 NCBI chr19:4,903,080...4,962,154
Ensembl chr19:4,903,080...4,962,154 		JBrowse link
G ZBTB24 zinc finger and BTB domain containing 24 IAGP HPO ORPHA:2268 NCBI chr 6:109,462,594...109,483,219
Ensembl chr 6:109,460,632...109,483,239 		JBrowse link
Dandy-Walker malformation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFF3 ALF transcription elongation factor 3 IAGP HPO PMID:33961779 MIM:619297 NCBI chr 2:99,545,419...100,142,590
Ensembl chr 2:99,545,419...100,192,428 		JBrowse link
G ALG3 ALG3 alpha-1,3- mannosyltransferase IAGP HPO ORPHA:79321 NCBI chr 3:184,242,301...184,249,525
Ensembl chr 3:184,242,301...184,249,548 		JBrowse link
G AP1S2 adaptor related protein complex 1 subunit sigma 2 IAGP HPO MIM:304340 NCBI chr  X:15,825,806...15,854,813
Ensembl chr  X:15,825,806...15,854,931 		JBrowse link
G ARID1A AT-rich interaction domain 1A IAGP HPO PMID:22426308 MIM:614607 ORPHA:1465 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104 		JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP HPO MIM:135900 ORPHA:1465 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779 		JBrowse link
G ARID2 AT-rich interaction domain 2 IAGP HPO ORPHA:1465 NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,728,910...45,908,040 		JBrowse link
G ARMC9 armadillo repeat containing 9 IAGP HPO PMID:28625504 MIM:617622 NCBI chr 2:231,198,631...231,376,848
Ensembl chr 2:231,198,546...231,376,848 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO MIM:605039 ORPHA:97297 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,266...32,439,319 		JBrowse link
G ATP6V0A2 ATPase H+ transporting V0 subunit a2 IAGP HPO MIM:219200 ORPHA:2834 ORPHA:357074 NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,342...123,761,755 		JBrowse link
G ATP6V1A ATPase H+ transporting V1 subunit A IAGP HPO ORPHA:357074 NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056 		JBrowse link
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP HPO ORPHA:79500 NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,230,399 		JBrowse link
G ATP6V1E1 ATPase H+ transporting V1 subunit E1 IAGP HPO ORPHA:357074 NCBI chr22:17,592,136...17,628,822
Ensembl chr22:17,592,136...17,630,958 		JBrowse link
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 IAGP HPO ORPHA:899 NCBI chr 1:235,439,796...235,504,452
Ensembl chr 1:235,447,190...235,504,474 		JBrowse link
G B4GALT1 beta-1,4-galactosyltransferase 1 IAGP HPO PMID:11901181 MIM:607091 ORPHA:79332 NCBI chr 9:33,104,077...33,185,089
Ensembl chr 9:33,100,493...33,167,359 		JBrowse link
G B4GAT1 beta-1,4-glucuronyltransferase 1 IAGP HPO MIM:615287 ORPHA:899 NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,638 		JBrowse link
G B9D1 B9 domain containing 1 IAGP HPO ORPHA:564 NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193 		JBrowse link
G B9D2 B9 domain containing 2 IAGP HPO PMID:31411728 MIM:614175 ORPHA:564 NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165 		JBrowse link
G BCOR BCL6 corepressor IAGP HPO PMID:15004558 MIM:300166 NCBI chr  X:40,051,246...40,177,277
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G BLTP1 bridge-like lipid transfer protein family member 1 IAGP HPO PMID:25558065 MIM:617822 NCBI chr 4:122,152,331...122,362,752
Ensembl chr 4:122,152,331...122,364,167 		JBrowse link
G BUB1 BUB1 mitotic checkpoint serine/threonine kinase IAGP HPO ORPHA:1052 NCBI chr 2:110,637,528...110,678,063
Ensembl chr 2:110,636,333...110,678,078 		JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B IAGP HPO MIM:257300 ORPHA:1052 NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,136 		JBrowse link
G BUB3 BUB3 mitotic checkpoint protein IAGP HPO ORPHA:1052 NCBI chr10:123,154,402...123,170,467
Ensembl chr10:123,154,395...123,170,467 		JBrowse link
G C2CD3 C2 domain containing 3 centriole elongation regulator IAGP HPO MIM:615948 ORPHA:434179 NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP HPO ORPHA:564 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,602,097 		JBrowse link
G CCDC22 coiled-coil domain containing 22 IAGP HPO PMID:21826058 PMID:24916641 MIM:300963 ORPHA:7 NCBI chr  X:49,235,470...49,250,520
Ensembl chr  X:49,235,444...49,250,526 		JBrowse link
G CDC42 cell division cycle 42 IAGP HPO ORPHA:487796 NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360 		JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C IAGP HPO MIM:130650 NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775 		JBrowse link
G CEP120 centrosomal protein 120 IAGP HPO PMID:25361962 MIM:616300 NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592 		JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO PMID:17564974 MIM:611134 ORPHA:564 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CEP57 centrosomal protein 57 IAGP HPO ORPHA:1052 NCBI chr11:95,790,014...95,832,693
Ensembl chr11:95,789,965...95,832,693 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO ORPHA:138 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G COG8 component of oligomeric golgi complex 8 IAGP HPO PMID:30690882 MIM:611182 NCBI chr16:69,326,428...69,339,564
Ensembl chr16:69,320,140...69,339,583 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP HPO ORPHA:899 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP HPO ORPHA:228305 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP HPO MIM:614643 ORPHA:899 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504 		JBrowse link
G CSF1R colony stimulating factor 1 receptor IAGP HPO PMID:30982609 MIM:618476 NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372 		JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP ClinVar Annotator: match by term: Dandy-Walker malformation ClinVar
HPO		 PMID:25741868 ORPHA:397715 ORPHA:564 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,381...67,196,778 		JBrowse link
G DAG1 dystroglycan 1 IAGP HPO ORPHA:899 NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,649...49,535,619 		JBrowse link
G DDX3X DEAD-box helicase 3 X-linked IAGP HPO ORPHA:3338 NCBI chr  X:41,333,308...41,364,472
Ensembl chr  X:41,333,348...41,364,472 		JBrowse link
G DENND5A DENN domain containing 5A IAGP HPO PMID:27866705 MIM:617281 NCBI chr11:9,138,825...9,265,350
Ensembl chr11:9,138,825...9,265,959 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP HPO PMID:23918729 MIM:270400 NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868 		JBrowse link
G DOK7 docking protein 7 IAGP HPO ORPHA:994 NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473 		JBrowse link
G DPF2 double PHD fingers 2 IAGP HPO ORPHA:1465 NCBI chr11:65,333,852...65,354,262
Ensembl chr11:65,333,821...65,354,262 		JBrowse link
G DPH1 diphthamide biosynthesis 1 IAGP HPO PMID:26220823 MIM:616901 ORPHA:459061 NCBI chr17:2,030,112...2,043,898
Ensembl chr17:2,030,137...2,043,898 		JBrowse link
G DPH2 diphthamide biosynthesis 2 IAGP HPO ORPHA:459061 NCBI chr 1:43,970,010...43,973,369
Ensembl chr 1:43,969,978...43,973,373 		JBrowse link
G DPYSL5 dihydropyrimidinase like 5 IAGP HPO PMID:33894126 MIM:619435 ORPHA:7 NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP HPO ORPHA:93271 NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863 		JBrowse link
G DYNC2I1 dynein 2 intermediate chain 1 IAGP HPO ORPHA:93271 NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747 		JBrowse link
G DYNC2I2 dynein 2 intermediate chain 2 IAGP HPO ORPHA:93271 NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,646...128,656,847 		JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP HPO PMID:10391218 MIM:300960 MIM:302960 ORPHA:401973 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,089...48,528,716 		JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO ORPHA:2319 NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640 		JBrowse link
G EVC EvC ciliary complex subunit 1 IAGP HPO MIM:225500 NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305 		JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP HPO MIM:225500 NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548 		JBrowse link
G FAR1 fatty acyl-CoA reductase 1 IAGP HPO PMID:25439727 MIM:616154 ORPHA:438178 NCBI chr11:13,668,668...13,732,346
Ensembl chr11:13,667,462...13,732,367 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO MIM:613001 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FKRP fukutin related protein IAGP HPO PMID:15121789 PMID:15637732 MIM:236670 MIM:613153 ORPHA:899 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FKTN fukutin IAGP HPO PMID:15637732 MIM:236670 ORPHA:899 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G FLVCR2 FLVCR choline and putative heme transporter 2 IAGP HPO MIM:225790 NCBI chr14:75,578,620...75,648,167
Ensembl chr14:75,578,594...75,663,214 		JBrowse link
G FTO FTO alpha-ketoglutarate dependent dioxygenase IAGP HPO PMID:19559399 MIM:612938 NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512 		JBrowse link
G GJB2 gap junction protein beta 2 IAGP HPO ORPHA:477 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,980 		JBrowse link
G GJB6 gap junction protein beta 6 IAGP HPO ORPHA:477 NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,450 		JBrowse link
G GLDN gliomedin IAGP HPO ORPHA:994 NCBI chr15:51,341,655...51,413,365
Ensembl chr15:51,341,611...51,408,005 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO ORPHA:36 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,265 		JBrowse link
G GPC3 glypican 3 IAGP HPO ORPHA:373 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G GPC4 glypican 4 IAGP HPO ORPHA:373 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,416,214 		JBrowse link
G GTPBP2 GTP binding protein 2 IAGP HPO PMID:29449720 MIM:617988 NCBI chr 6:43,620,494...43,631,333
Ensembl chr 6:43,605,316...43,629,264 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO ORPHA:2612 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,343 		JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP HPO MIM:236680 NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,846 		JBrowse link
G IFT80 intraflagellar transport 80 IAGP HPO ORPHA:93271 NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,400,357 		JBrowse link
G IGF2 insulin like growth factor 2 IAGP HPO MIM:130650 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 IAGP HPO MIM:130650 NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105 		JBrowse link
G KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 IAGP HPO MIM:130650 NCBI chr11:2,608,328...2,699,994
Ensembl chr11:2,597,308...2,700,003 		JBrowse link
G KIAA0586 KIAA0586 IAGP HPO ORPHA:397715 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G KIF21A kinesin family member 21A IAGP HPO ORPHA:994 NCBI chr12:39,293,228...39,443,120
Ensembl chr12:39,293,228...39,443,718 		JBrowse link
G KIF5A kinesin family member 5A IAGP HPO PMID:27414745 MIM:617235 NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633 		JBrowse link
G KIF7 kinesin family member 7 IAGP HPO ORPHA:36 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,098 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO PMID:17056636 MIM:609942 ORPHA:2612 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO PMID:15637732 PMID:17436019 MIM:236670 MIM:613154 ORPHA:899 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,885 		JBrowse link
G MAB21L1 mab-21 like 1 IAGP HPO PMID:27103078 MIM:618479 ORPHA:495875 NCBI chr13:35,473,789...35,476,689
Ensembl chr13:35,473,419...35,478,764 		JBrowse link
G MAGEL2 MAGE family member L2 IAGP HPO ORPHA:994 NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867 		JBrowse link
G MID1 midline 1 IAGP HPO ORPHA:2745 NCBI chr  X:10,445,310...10,833,683
Ensembl chr  X:10,445,310...10,833,654 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO MIM:249000 ORPHA:564 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,350...58,219,605 		JBrowse link
G MTM1 myotubularin 1 IAGP HPO PMID:9931531 MIM:310400 NCBI chr  X:150,562,653...150,673,143
Ensembl chr  X:150,568,417...150,673,143 		JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP HPO ORPHA:994 NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558 		JBrowse link
G MYOD1 myogenic differentiation 1 IAGP HPO ORPHA:994 NCBI chr11:17,719,571...17,722,136
Ensembl chr11:17,719,571...17,722,136 		JBrowse link
G NPHP3 nephrocystin 3 IAGP HPO PMID:18371931 MIM:208540 MIM:267010 ORPHA:3032 NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO MIM:249400 ORPHA:2612 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G NUP88 nucleoporin 88 IAGP HPO ORPHA:994 NCBI chr17:5,384,833...5,419,662
Ensembl chr17:5,359,668...5,420,164 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO ORPHA:2750 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,675...13,777,955 		JBrowse link
G PGAP2 post-GPI attachment to proteins 2 IAGP HPO PMID:23561846 MIM:614207 NCBI chr11:3,797,720...3,826,371
Ensembl chr11:3,797,724...3,826,371 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase IAGP HPO MIM:256520 NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,227 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO PMID:24726473 MIM:248700 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP HPO ORPHA:2059 NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118 		JBrowse link
G PLCH1 phospholipase C eta 1 IAGP HPO PMID:33820834 MIM:619895 NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,085 		JBrowse link
G PLG plasminogen IAGP HPO PMID:9242524 MIM:217090 ORPHA:722 NCBI chr 6:160,702,193...160,754,097
Ensembl chr 6:160,702,105...160,754,097 		JBrowse link
G PMM2 phosphomannomutase 2 IAGP HPO ORPHA:79318 NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534 		JBrowse link
G POGZ pogo transposable element derived with ZNF domain IAGP HPO PMID:26739615 PMID:30879264 PMID:35052493 MIM:616364 NCBI chr 1:151,402,724...151,459,494
Ensembl chr 1:151,402,724...151,459,494 		JBrowse link
G POLR1A RNA polymerase I subunit A IAGP HPO PMID:37075751 MIM:616462 NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO MIM:264090 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,549 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP HPO ORPHA:899 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,681...46,220,305 		JBrowse link
G POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) IAGP HPO ORPHA:899 NCBI chr 3:43,079,234...43,106,079
Ensembl chr 3:43,079,229...43,106,085 		JBrowse link
G POMK protein O-mannose kinase IAGP HPO ORPHA:899 NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO PMID:15637732 MIM:236670 ORPHA:899 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP HPO PMID:15637732 MIM:236670 ORPHA:899 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G PPP1CB protein phosphatase 1 catalytic subunit beta IAGP HPO PMID:27264673 MIM:617506 NCBI chr 2:28,751,604...28,802,940
Ensembl chr 2:28,751,562...28,802,940 		JBrowse link
G RAPSN receptor associated protein of the synapse IAGP HPO ORPHA:994 NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,762...47,449,192 		JBrowse link
G RBMX RNA binding motif protein X-linked IAGP HPO ORPHA:3078 NCBI chr  X:136,869,192...136,880,725
Ensembl chr  X:136,848,004...136,880,764 		JBrowse link
G RNF113A ring finger protein 113A IAGP HPO PMID:25612912 MIM:300953 NCBI chr  X:119,870,475...119,871,733
Ensembl chr  X:119,870,475...119,871,733 		JBrowse link
G RPGRIP1 RPGR interacting protein 1 IAGP HPO ORPHA:564 NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP HPO ORPHA:564 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G RXYLT1 ribitol xylosyltransferase 1 IAGP HPO ORPHA:899 NCBI chr12:63,779,909...63,809,562
Ensembl chr12:63,779,833...63,809,792 		JBrowse link
G SEMA3E semaphorin 3E IAGP HPO ORPHA:138 NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139 		JBrowse link
G SLC18A3 solute carrier family 18 member A3 IAGP HPO ORPHA:994 NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720 		JBrowse link
G SLC35A2 solute carrier family 35 member A2 IAGP HPO ORPHA:356961 NCBI chr  X:48,903,183...48,911,958
Ensembl chr  X:48,903,180...48,911,958 		JBrowse link
G SMARCA4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 IAGP HPO MIM:614609 ORPHA:1465 NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,824...11,079,426 		JBrowse link
G SMARCB1 SWI/SNF related BAF chromatin remodeling complex subunit B1 IAGP HPO PMID:22426308 MIM:614608 ORPHA:1465 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G SMARCC2 SWI/SNF related BAF chromatin remodeling complex subunit C2 IAGP HPO ORPHA:1465 NCBI chr12:56,162,359...56,189,483
Ensembl chr12:56,162,359...56,189,567 		JBrowse link
G SMARCD1 SWI/SNF related BAF chromatin remodeling complex subunit D1 IAGP HPO ORPHA:1465 NCBI chr12:50,085,342...50,100,707
Ensembl chr12:50,085,200...50,100,712 		JBrowse link
G SMARCE1 SWI/SNF related BAF chromatin remodeling complex subunit E1 IAGP HPO MIM:616938 ORPHA:1465 NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654 		JBrowse link
G SMG9 SMG9 nonsense mediated mRNA decay factor IAGP HPO PMID:27018474 MIM:616920 NCBI chr19:43,727,983...43,754,962
Ensembl chr19:43,727,983...43,755,054 		JBrowse link
G SOX11 SRY-box transcription factor 11 IAGP HPO ORPHA:1465 NCBI chr 2:5,692,384...5,701,385
Ensembl chr 2:5,692,384...5,701,385 		JBrowse link
G SOX4 SRY-box transcription factor 4 IAGP HPO ORPHA:1465 NCBI chr 6:21,593,751...21,598,619
Ensembl chr 6:21,593,751...21,598,619 		JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP HPO MIM:220500 ORPHA:79500 NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,671 		JBrowse link
G TCTN1 tectonic family member 1 IAGP HPO ORPHA:564 NCBI chr12:110,614,129...110,649,430
Ensembl chr12:110,614,027...110,663,431 		JBrowse link
G TCTN2 tectonic family member 2 IAGP HPO ORPHA:564 NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399 		JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO ORPHA:564 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G TMEM107 transmembrane protein 107 IAGP HPO ORPHA:564 NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,405 		JBrowse link
G TMEM138 transmembrane protein 138 IAGP HPO PMID:22282472 MIM:614465 NCBI chr11:61,362,374...61,376,870
Ensembl chr11:61,361,964...61,377,890 		JBrowse link
G TMEM216 transmembrane protein 216 IAGP HPO PMID:20512146 MIM:603194 ORPHA:564 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866 		JBrowse link
G TMEM231 transmembrane protein 231 IAGP HPO ORPHA:564 NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289 		JBrowse link
G TMEM237 transmembrane protein 237 IAGP HPO PMID:22152675 MIM:614424 ORPHA:564 NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO PMID:17377820 MIM:607361 ORPHA:564 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 IAGP HPO ORPHA:1052 NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357 		JBrowse link
G TUBA1A tubulin alpha 1a IAGP HPO ORPHA:994 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,324 		JBrowse link
G TUBB tubulin beta class I IAGP HPO PMID:26637975 MIM:156610 NCBI chr 6:30,720,352...30,725,422
Ensembl chr 6:30,717,435...30,725,538 		JBrowse link
G TXNDC15 thioredoxin domain containing 15 IAGP HPO ORPHA:564 NCBI chr 5:134,873,770...134,901,635
Ensembl chr 5:134,874,318...134,901,635 		JBrowse link
G USP9X ubiquitin specific peptidase 9 X-linked IAGP HPO PMID:26833328 MIM:300968 ORPHA:480880 NCBI chr  X:41,085,445...41,236,579
Ensembl chr  X:41,085,431...41,236,579 		JBrowse link
G VPS35L VPS35 endosomal protein sorting factor like IAGP HPO ORPHA:7 NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793 		JBrowse link
G VPS51 VPS51 subunit of GARP complex IAGP HPO PMID:31207318 MIM:618606 NCBI chr11:65,096,214...65,111,862
Ensembl chr11:65,089,324...65,111,862 		JBrowse link
G WASHC5 WASH complex subunit 5 IAGP HPO MIM:220210 ORPHA:7 NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819 		JBrowse link
G WDR35 WD repeat domain 35 IAGP HPO ORPHA:93271 NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,141 		JBrowse link
G WDR73 WD repeat domain 73 IAGP HPO MIM:251300 NCBI chr15:84,639,285...84,654,283
Ensembl chr15:84,639,285...84,654,343 		JBrowse link
G WDR81 WD repeat domain 81 IAGP HPO PMID:28556411 MIM:617967 NCBI chr17:1,716,523...1,738,585
Ensembl chr17:1,716,523...1,738,599 		JBrowse link
G ZIC1 Zic family member 1 IAGP HPO PMID:26340333 MIM:616602 MIM:618736 NCBI chr 3:147,409,365...147,416,719
Ensembl chr 3:147,393,422...147,510,293 		JBrowse link
Dilated fourth ventricle term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASNS asparagine synthetase (glutamine-hydrolyzing) IAGP HPO PMID:29375865 MIM:615574 NCBI chr 7:97,851,677...97,928,441
Ensembl chr 7:97,851,677...97,872,542 		JBrowse link
G ATXN1 ataxin 1 IAGP HPO MIM:164400 NCBI chr 6:16,299,112...16,761,460
Ensembl chr 6:16,299,112...16,761,491 		JBrowse link
G ATXN2 ataxin 2 IAGP HPO MIM:183090 NCBI chr12:111,452,214...111,599,673
Ensembl chr12:111,443,485...111,599,676 		JBrowse link
G ATXN3 ataxin 3 IAGP HPO MIM:109150 ORPHA:276238 ORPHA:276241 ORPHA:276244 NCBI chr14:92,044,775...92,106,582
Ensembl chr14:92,044,496...92,106,622 		JBrowse link
G B9D2 B9 domain containing 2 IAGP HPO PMID:31411728 MIM:614175 NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165 		JBrowse link
G C2CD3 C2 domain containing 3 centriole elongation regulator IAGP HPO ORPHA:434179 NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210 		JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase IAGP HPO MIM:300749 NCBI chr  X:41,514,934...41,923,554
Ensembl chr  X:41,514,934...41,923,660 		JBrowse link
G CLXN calaxin IAGP HPO PMID:36727596 MIM:620642 NCBI chr 8:48,710,789...48,735,311
Ensembl chr 8:48,710,789...48,735,311 		JBrowse link
G COX20 cytochrome c oxidase assembly factor COX20 IAGP HPO PMID:24202787 MIM:619054 NCBI chr 1:244,835,306...244,845,063
Ensembl chr 1:244,835,616...244,845,480 		JBrowse link
G EXOC2 exocyst complex component 2 IAGP HPO PMID:32639540 MIM:619306 NCBI chr 6:485,154...693,139
Ensembl chr 6:485,133...693,169 		JBrowse link
G FKRP fukutin related protein IAGP HPO ORPHA:370959 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP HPO ORPHA:370959 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,985 		JBrowse link
G GRM1 glutamate metabotropic receptor 1 IAGP HPO PMID:22901947 MIM:614831 NCBI chr 6:146,027,707...146,437,601
Ensembl chr 6:146,027,646...146,437,601 		JBrowse link
G INTS11 integrator complex subunit 11 IAGP HPO PMID:37054711 MIM:620428 NCBI chr 1:1,311,600...1,324,660
Ensembl chr 1:1,311,585...1,324,687 		JBrowse link
G LAMA1 laminin subunit alpha 1 IAGP HPO MIM:615960 ORPHA:370022 NCBI chr18:6,941,742...7,117,797
Ensembl chr18:6,941,742...7,117,859 		JBrowse link
G MAPKAPK5 MAPK activated protein kinase 5 IAGP HPO PMID:33442026 MIM:619869 NCBI chr12:111,842,228...111,902,222
Ensembl chr12:111,842,013...111,902,222 		JBrowse link
G MEF2C myocyte enhancer factor 2C IAGP HPO PMID:19592390 MIM:613443 NCBI chr 5:88,717,117...88,904,105
Ensembl chr 5:88,717,117...88,904,257 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO PMID:35360848 MIM:249000 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,350...58,219,605 		JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease IAGP HPO ORPHA:251347 NCBI chr11:94,415,570...94,512,412
Ensembl chr11:94,415,570...94,493,889 		JBrowse link
G NIPA1 NIPA magnesium transporter 1 IAGP HPO ORPHA:261183 NCBI chr15:22,786,225...22,829,789
Ensembl chr15:22,773,063...22,829,789 		JBrowse link
G NIPA2 NIPA magnesium transporter 2 IAGP HPO ORPHA:261183 NCBI chr15:22,838,666...22,868,384
Ensembl chr15:22,838,625...22,869,362 		JBrowse link
G PMM2 phosphomannomutase 2 IAGP HPO PMID:11343337 MIM:212065 NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534 		JBrowse link
G PMPCA peptidase, mitochondrial processing subunit alpha IAGP HPO PMID:25808372 MIM:213200 ORPHA:1170 NCBI chr 9:136,410,658...136,423,761
Ensembl chr 9:136,410,630...136,427,992 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP HPO ORPHA:370959 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,681...46,220,305 		JBrowse link
G POMK protein O-mannose kinase IAGP HPO ORPHA:370959 NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO ORPHA:370959 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP HPO ORPHA:370959 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G PUM1 pumilio RNA binding family member 1 IAGP HPO PMID:29474920 MIM:620719 NCBI chr 1:30,931,506...31,065,717
Ensembl chr 1:30,931,505...31,065,991 		JBrowse link
G RAC1 Rac family small GTPase 1 IAGP HPO PMID:28886345 MIM:617751 NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,098...6,403,998 		JBrowse link
G RBMX RNA binding motif protein X-linked IAGP HPO ORPHA:3078 NCBI chr  X:136,869,192...136,880,725
Ensembl chr  X:136,848,004...136,880,764 		JBrowse link
G RNU12 RNA, U12 small nuclear IAGP HPO PMID:27863452 MIM:620208 NCBI chr22:42,615,244...42,615,393
Ensembl chr22:42,615,244...42,615,393 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO PMID:17160906 MIM:610688 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TUBA1A tubulin alpha 1a IAGP HPO ORPHA:171680 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,324 		JBrowse link
G TUBB tubulin beta class I IAGP HPO PMID:23246003 MIM:615771 NCBI chr 6:30,720,352...30,725,422
Ensembl chr 6:30,717,435...30,725,538 		JBrowse link
G TUBG1 tubulin gamma 1 IAGP HPO ORPHA:261183 NCBI chr17:42,609,683...42,615,238
Ensembl chr17:42,609,637...42,615,241 		JBrowse link
G USP9X ubiquitin specific peptidase 9 X-linked IAGP HPO ORPHA:480880 NCBI chr  X:41,085,445...41,236,579
Ensembl chr  X:41,085,431...41,236,579 		JBrowse link
G WARS2 tryptophanyl tRNA synthetase 2, mitochondrial IAGP HPO ORPHA:572798 NCBI chr 1:119,031,216...119,140,672
Ensembl chr 1:119,030,284...119,140,673 		JBrowse link
G WLS Wnt ligand secretion mediator IAGP HPO PMID:34587386 MIM:619648 NCBI chr 1:68,098,459...68,232,546
Ensembl chr 1:68,098,473...68,233,120 		JBrowse link
Dilated third ventricle term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASNS asparagine synthetase (glutamine-hydrolyzing) IAGP HPO PMID:29375865 MIM:615574 NCBI chr 7:97,851,677...97,928,441
Ensembl chr 7:97,851,677...97,872,542 		JBrowse link
G ATP6AP2 ATPase H+ transporting accessory protein 2 IAGP HPO ORPHA:363654 NCBI chr  X:40,580,970...40,606,848
Ensembl chr  X:40,579,372...40,606,848 		JBrowse link
G C2CD3 C2 domain containing 3 centriole elongation regulator IAGP HPO ORPHA:434179 NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210 		JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO ORPHA:397715 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,381...67,196,778 		JBrowse link
G DNMT1 DNA methyltransferase 1 IAGP HPO ORPHA:314404 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286 		JBrowse link
G EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon IAGP HPO PMID:17646634 MIM:620315 NCBI chr 3:184,135,358...184,145,311
Ensembl chr 3:184,135,038...184,146,127 		JBrowse link
G ESAM endothelial cell adhesion molecule IAGP HPO PMID:36996813 MIM:620371 NCBI chr11:124,753,126...124,762,290
Ensembl chr11:124,752,583...124,762,315 		JBrowse link
G KCNN2 potassium calcium-activated channel subfamily N member 2 IAGP HPO PMID:33242881 MIM:619725 NCBI chr 5:114,055,978...114,496,496
Ensembl chr 5:114,055,926...114,496,500 		JBrowse link
G KIAA0586 KIAA0586 IAGP HPO ORPHA:397715 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G KIDINS220 kinase D interacting substrate 220 IAGP HPO PMID:27005418 MIM:617296 NCBI chr 2:8,721,081...8,837,613
Ensembl chr 2:8,721,081...8,837,630 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO PMID:17436019 MIM:613154 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,885 		JBrowse link
G MED25 mediator complex subunit 25 IAGP HPO ORPHA:464738 NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,277...49,840,383 		JBrowse link
G ODC1 ornithine decarboxylase 1 IAGP HPO ORPHA:544488 NCBI chr 2:10,439,968...10,448,327
Ensembl chr 2:10,439,968...10,450,116 		JBrowse link
G TAOK1 TAO kinase 1 IAGP HPO PMID:33565190 MIM:619575 NCBI chr17:29,390,363...29,551,903
Ensembl chr17:29,390,351...29,551,903 		JBrowse link
G TTC5 tetratricopeptide repeat domain 5 IAGP HPO PMID:32439809 MIM:619244 NCBI chr14:20,286,227...20,305,951
Ensembl chr14:20,256,558...20,305,963 		JBrowse link
G USP7 ubiquitin specific peptidase 7 IAGP HPO ORPHA:500055 NCBI chr16:8,892,097...8,963,906
Ensembl chr16:8,892,097...8,975,328 		JBrowse link
Enlarged fossa interpeduncularis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHI1 Abelson helper integration site 1 IAGP HPO MIM:608629 NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP HPO MIM:213300 NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,618...136,439,882 		JBrowse link
G TMEM216 transmembrane protein 216 IAGP HPO MIM:608091 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO MIM:610688 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
Enlarged sylvian cistern term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFG2B AFG2 AAA ATPase homolog B IAGP HPO PMID:34626583 MIM:619616 NCBI chr15:45,402,336...45,421,415
Ensembl chr15:45,402,336...45,421,415 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase IAGP HPO PMID:27672653 MIM:231670 NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,128...12,915,126 		JBrowse link
G PGAP1 post-GPI attachment to proteins inositol deacylase 1 IAGP HPO PMID:24482476 PMID:25823418 MIM:615802 NCBI chr 2:196,833,004...196,926,707
Ensembl chr 2:196,833,004...196,927,796 		JBrowse link
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 IAGP HPO PMID:20512159 MIM:600118 NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,283...135,176,667 		JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP HPO PMID:17394201 MIM:212720 NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529 		JBrowse link
Hydrocephalus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase IAGP HPO PMID:15884042 MIM:182212 NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675 		JBrowse link
G ACBD6 acyl-CoA binding domain containing 6 IAGP HPO PMID:37951597 MIM:620785 NCBI chr 1:180,269,653...180,502,577
Ensembl chr 1:180,269,653...180,502,954 		JBrowse link
G AEBP1 AE binding protein 1 IAGP HPO PMID:15884042 MIM:182212 NCBI chr 7:44,104,345...44,114,560
Ensembl chr 7:44,104,295...44,114,565 		JBrowse link
G AHI1 Abelson helper integration site 1 IAGP HPO ORPHA:220493 ORPHA:475 NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434 		JBrowse link
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO ORPHA:963 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:2495 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,348...104,799,934 		JBrowse link
G AKT3 AKT serine/threonine kinase 3 IAGP HPO MIM:615937 ORPHA:83473 NCBI chr 1:243,488,233...243,851,079
Ensembl chr 1:243,488,233...243,851,079 		JBrowse link
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 IAGP HPO PMID:16491085 MIM:266100 NCBI chr 5:126,541,841...126,595,219
Ensembl chr 5:126,531,200...126,595,362 		JBrowse link
G ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit IAGP HPO PMID:23033978 MIM:300884 NCBI chr  X:111,681,170...111,760,649
Ensembl chr  X:111,665,811...111,760,649 		JBrowse link
G ALK ALK receptor tyrosine kinase IAGP HPO ORPHA:626 NCBI chr 2:29,192,774...29,921,586
Ensembl chr 2:29,192,774...29,921,586 		JBrowse link
G AMER1 APC membrane recruitment protein 1 IAGP HPO MIM:300373 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708 		JBrowse link
G ANKH ANKH inorganic pyrophosphate transport regulator IAGP HPO PMID:22150416 MIM:123000 NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,877 		JBrowse link
G AP1S2 adaptor related protein complex 1 subunit sigma 2 IAGP HPO PMID:17617514 MIM:304340 ORPHA:85335 NCBI chr  X:15,825,806...15,854,813
Ensembl chr  X:15,825,806...15,854,931 		JBrowse link
G ARHGAP31 Rho GTPase activating protein 31 IAGP HPO ORPHA:974 NCBI chr 3:119,294,383...119,420,714
Ensembl chr 3:119,294,352...119,420,714 		JBrowse link
G ARL13B ARF like GTPase 13B IAGP HPO ORPHA:475 NCBI chr 3:93,980,155...94,055,678
Ensembl chr 3:93,980,139...94,055,678 		JBrowse link
G ARL3 ARF like GTPase 3 IAGP HPO ORPHA:475 NCBI chr10:102,673,731...102,714,397
Ensembl chr10:102,673,731...102,714,437 		JBrowse link
G ARMC9 armadillo repeat containing 9 IAGP HPO ORPHA:475 NCBI chr 2:231,198,631...231,376,848
Ensembl chr 2:231,198,546...231,376,848 		JBrowse link
G ARSB arylsulfatase B IAGP HPO MIM:253200 NCBI chr 5:78,777,209...78,985,958
Ensembl chr 5:78,777,209...78,986,087 		JBrowse link
G ARVCF ARVCF delta catenin family member IAGP HPO ORPHA:567 NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,892...20,016,823 		JBrowse link
G ASPH aspartate beta-hydroxylase IAGP HPO PMID:15884042 MIM:182212 NCBI chr 8:61,500,556...61,714,592
Ensembl chr 8:61,500,549...61,714,768 		JBrowse link
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 IAGP HPO PMID:23453667 MIM:615181 ORPHA:588 ORPHA:899 NCBI chr 1:235,439,796...235,504,452
Ensembl chr 1:235,447,190...235,504,474 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO ORPHA:536467 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G B3GAT3 beta-1,3-glucuronyltransferase 3 IAGP HPO MIM:245600 NCBI chr11:62,615,296...62,621,986
Ensembl chr11:62,615,296...62,622,154 		JBrowse link
G B3GLCT beta 3-glucosyltransferase IAGP HPO MIM:261540 ORPHA:709 NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276 		JBrowse link
G B4GALT1 beta-1,4-galactosyltransferase 1 IAGP HPO PMID:11901181 MIM:607091 ORPHA:79332 NCBI chr 9:33,104,077...33,185,089
Ensembl chr 9:33,100,493...33,167,359 		JBrowse link
G B4GAT1 beta-1,4-glucuronyltransferase 1 IAGP HPO MIM:615287 ORPHA:899 NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,638 		JBrowse link
G B9D1 B9 domain containing 1 IAGP HPO ORPHA:475 ORPHA:564 NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193 		JBrowse link
G B9D2 B9 domain containing 2 IAGP HPO ORPHA:475 ORPHA:564 NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165 		JBrowse link
G BAP1 BRCA1 associated deubiquitinase 1 IAGP HPO ORPHA:2495 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008 		JBrowse link
G BGN biglycan IAGP HPO PMID:15884042 MIM:182212 NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,488,654...153,510,299 		JBrowse link
G BLTP1 bridge-like lipid transfer protein family member 1 IAGP ClinVar Annotator: match by term: Hydrocephalus ClinVar
HPO		 PMID:25558065 PMID:25741868 MIM:617822 NCBI chr 4:122,152,331...122,362,752
Ensembl chr 4:122,152,331...122,364,167 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO MIM:115150 ORPHA:1340 ORPHA:54595 ORPHA:626 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,976 		JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP HPO ORPHA:84 NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,292...43,170,245 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO ORPHA:84 NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G BRIP1 BRCA1 interacting DNA helicase 1 IAGP HPO ORPHA:84 NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,561 		JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B IAGP HPO MIM:257300 NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,136 		JBrowse link
G CASP2 caspase 2 IAGP HPO PMID:37880421 MIM:620653 NCBI chr 7:143,288,351...143,307,696
Ensembl chr 7:143,288,215...143,307,696 		JBrowse link
G CBS cystathionine beta-synthase IAGP HPO PMID:15884042 MIM:182212 NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,050,900...43,076,943 		JBrowse link
G CBY1 chibby 1, beta catenin antagonist IAGP HPO ORPHA:475 NCBI chr22:38,656,638...38,673,850
Ensembl chr22:38,656,375...38,673,868 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP HPO PMID:18513680 PMID:18950740 MIM:612284 MIM:619111 ORPHA:1454 ORPHA:2318 ORPHA:564 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,602,097 		JBrowse link
G CCDC22 coiled-coil domain containing 22 IAGP HPO ORPHA:7 NCBI chr  X:49,235,470...49,250,520
Ensembl chr  X:49,235,444...49,250,526 		JBrowse link
G CCDC39 coiled-coil domain 39 molecular ruler complex subunit IAGP HPO ORPHA:244 NCBI chr 3:180,614,008...180,679,489
Ensembl chr 3:180,602,858...180,684,942 		JBrowse link
G CCDC40 coiled-coil domain 40 molecular ruler complex subunit IAGP HPO ORPHA:244 NCBI chr17:80,036,642...80,100,613
Ensembl chr17:80,036,632...80,100,613 		JBrowse link
G CCDC65 coiled-coil domain containing 65 IAGP HPO ORPHA:244 NCBI chr12:48,904,133...48,921,576
Ensembl chr12:48,904,110...48,931,840 		JBrowse link
G CCDC88C coiled-coil domain containing 88C IAGP ClinVar Annotator: match by term: Hydrocephalus ClinVar
HPO		 PMID:21031079 PMID:25741868 PMID:28492532 MIM:236600 NCBI chr14:91,271,323...91,417,820
Ensembl chr14:91,271,323...91,417,844 		JBrowse link
G CCND2 cyclin D2 IAGP HPO PMID:24705253 MIM:615938 ORPHA:83473 NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,306,933 		JBrowse link
G CCNO cyclin O IAGP HPO ORPHA:244 NCBI chr 5:55,231,152...55,233,608
Ensembl chr 5:55,231,152...55,233,608 		JBrowse link
G CDC40 cell division cycle 40 IAGP HPO PMID:33220177 MIM:619302 NCBI chr 6:110,180,427...110,232,232
Ensembl chr 6:110,180,141...110,254,275 		JBrowse link
G CDON cell adhesion associated, oncogene regulated IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr11:125,956,821...126,063,335
Ensembl chr11:125,955,796...126,063,335 		JBrowse link
G CENPF centromere protein F IAGP HPO MIM:243605 NCBI chr 1:214,603,195...214,664,571
Ensembl chr 1:214,603,172...214,664,574 		JBrowse link
G CEP104 centrosomal protein 104 IAGP HPO ORPHA:475 NCBI chr 1:3,812,086...3,857,211
Ensembl chr 1:3,812,086...3,857,723 		JBrowse link
G CEP120 centrosomal protein 120 IAGP HPO ORPHA:220493 ORPHA:475 NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592 		JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO MIM:611134 ORPHA:2318 ORPHA:564 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CEP41 centrosomal protein 41 IAGP HPO ORPHA:220493 ORPHA:475 NCBI chr 7:130,393,771...130,441,741
Ensembl chr 7:130,393,771...130,442,433 		JBrowse link
G CEP83 centrosomal protein 83 IAGP HPO PMID:24882706 MIM:615862 NCBI chr12:94,265,662...94,460,454
Ensembl chr12:94,306,449...94,459,988 		JBrowse link
G CFAP221 cilia and flagella associated protein 221 IAGP HPO ORPHA:244 NCBI chr 2:119,544,449...119,660,323
Ensembl chr 2:119,544,432...119,662,251 		JBrowse link
G CFAP298 cilia and flagella associated protein 298 IAGP HPO ORPHA:244 NCBI chr21:32,599,354...32,612,377
Ensembl chr21:32,592,079...32,612,845 		JBrowse link
G CFAP300 cilia and flagella associated protein 300 IAGP HPO ORPHA:244 NCBI chr11:102,047,437...102,084,554
Ensembl chr11:102,047,435...102,084,554 		JBrowse link
G CFAP74 cilia and flagella associated protein 74 IAGP HPO ORPHA:244 NCBI chr 1:1,921,957...2,003,786
Ensembl chr 1:1,921,951...2,003,837 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO MIM:245600 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G CILK1 ciliogenesis associated kinase 1 IAGP HPO PMID:19185282 MIM:612651 NCBI chr 6:53,001,303...53,061,824
Ensembl chr 6:53,001,279...53,061,824 		JBrowse link
G CLCN3 chloride voltage-gated channel 3 IAGP HPO PMID:34186028 MIM:619512 NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,438...169,723,673 		JBrowse link
G CLCN7 chloride voltage-gated channel 7 IAGP HPO ORPHA:53 ORPHA:667 NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,104 		JBrowse link
G COG6 component of oligomeric golgi complex 6 IAGP HPO PMID:26260076 MIM:614576 NCBI chr13:39,655,627...39,791,666
Ensembl chr13:39,655,627...39,791,666 		JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain IAGP HPO ORPHA:1571 NCBI chr21:45,405,165...45,513,720
Ensembl chr21:45,405,123...45,513,721 		JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP HPO PMID:15884042 MIM:182212 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,371...189,012,746 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP HPO MIM:175780 ORPHA:899 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202 		JBrowse link
G COMT catechol-O-methyltransferase IAGP HPO ORPHA:567 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975 		JBrowse link
G COX7B cytochrome c oxidase subunit 7B IAGP HPO MIM:309801 ORPHA:2556 NCBI chr  X:77,899,468...77,907,376
Ensembl chr  X:77,895,727...77,907,376 		JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 IAGP HPO ORPHA:475 NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,400 		JBrowse link
G CPLX1 complexin 1 IAGP HPO MIM:194190 NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...827,043 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP HPO ORPHA:228308 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197 		JBrowse link
G CRB2 crumbs cell polarity complex component 2 IAGP HPO MIM:219730 NCBI chr 9:123,354,065...123,380,326
Ensembl chr 9:123,356,170...123,380,324 		JBrowse link
G CRIPTO cripto, EGF-CFC family member IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,573,633...46,584,684 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP HPO PMID:22522420 MIM:614643 ORPHA:588 ORPHA:899 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504 		JBrowse link
G CSF1R colony stimulating factor 1 receptor IAGP HPO PMID:30982609 MIM:618476 NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372 		JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO ORPHA:475 ORPHA:564 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,381...67,196,778 		JBrowse link
G CTBP1 C-terminal binding protein 1 IAGP HPO MIM:194190 NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,434...1,250,333 		JBrowse link
G CTNNA2 catenin alpha 2 IAGP HPO PMID:30013181 MIM:618174 NCBI chr 2:79,185,377...80,648,780
Ensembl chr 2:79,185,231...80,648,861 		JBrowse link
G CTNNB1 catenin beta 1 IAGP HPO ORPHA:54595 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G CYP26C1 cytochrome P450 family 26 subfamily C member 1 IAGP HPO ORPHA:398189 NCBI chr10:93,060,798...93,069,540
Ensembl chr10:93,060,798...93,069,540 		JBrowse link
G DAG1 dystroglycan 1 IAGP HPO MIM:616538 ORPHA:899 NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,649...49,535,619 		JBrowse link
G DCC DCC netrin 1 receptor IAGP HPO PMID:28250456 MIM:617542 NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,899 		JBrowse link
G DENND5A DENN domain containing 5A IAGP HPO PMID:27866705 MIM:617281 NCBI chr11:9,138,825...9,265,350
Ensembl chr11:9,138,825...9,265,959 		JBrowse link
G DHCR24 24-dehydrocholesterol reductase IAGP HPO MIM:602398 ORPHA:35107 NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,207 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP HPO MIM:270400 NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868 		JBrowse link
G DISP1 dispatched RND transporter family member 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 1:222,815,039...223,005,995
Ensembl chr 1:222,814,730...223,006,258 		JBrowse link
G DLL1 delta like canonical Notch ligand 1 IAGP HPO PMID:31353024 MIM:618709 ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 6:170,282,206...170,291,078
Ensembl chr 6:170,282,202...170,306,565 		JBrowse link
G DLL4 delta like canonical Notch ligand 4 IAGP HPO ORPHA:974 NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,338...40,939,078 		JBrowse link
G DNAAF1 dynein axonemal assembly factor 1 IAGP HPO ORPHA:244 NCBI chr16:84,145,308...84,177,920
Ensembl chr16:84,145,261...84,178,769 		JBrowse link
G DNAAF11 dynein axonemal assembly factor 11 IAGP HPO ORPHA:244 NCBI chr 8:132,570,416...132,702,913
Ensembl chr 8:132,570,416...132,675,617 		JBrowse link
G DNAAF19 dynein axonemal assembly factor 19 IAGP HPO ORPHA:244 NCBI chr17:44,899,729...44,905,390
Ensembl chr17:44,899,142...44,905,390 		JBrowse link
G DNAAF2 dynein axonemal assembly factor 2 IAGP HPO ORPHA:244 NCBI chr14:49,625,174...49,635,244
Ensembl chr14:49,625,174...49,635,244 		JBrowse link
G DNAAF3 dynein axonemal assembly factor 3 IAGP HPO ORPHA:244 NCBI chr19:55,158,661...55,166,722
Ensembl chr19:55,158,661...55,166,722 		JBrowse link
G DNAAF4 dynein axonemal assembly factor 4 IAGP HPO ORPHA:244 NCBI chr15:55,417,755...55,508,234
Ensembl chr15:55,410,525...55,508,234 		JBrowse link
G DNAAF5 dynein axonemal assembly factor 5 IAGP HPO ORPHA:244 NCBI chr 7:726,699...786,475
Ensembl chr 7:726,690...786,475 		JBrowse link
G DNAAF6 dynein axonemal assembly factor 6 IAGP HPO ORPHA:244 NCBI chr  X:107,206,611...107,244,247
Ensembl chr  X:107,206,611...107,244,247 		JBrowse link
G DNAH1 dynein axonemal heavy chain 1 IAGP HPO ORPHA:244 NCBI chr 3:52,310,920...52,400,492
Ensembl chr 3:52,316,319...52,400,492 		JBrowse link
G DNAH11 dynein axonemal heavy chain 11 IAGP HPO ORPHA:244 NCBI chr 7:21,543,039...21,901,839
Ensembl chr 7:21,543,039...21,901,839 		JBrowse link
G DNAH5 dynein axonemal heavy chain 5 IAGP HPO ORPHA:244 NCBI chr 5:13,690,328...14,011,818
Ensembl chr 5:13,690,328...14,011,818 		JBrowse link
G DNAH9 dynein axonemal heavy chain 9 IAGP ClinVar Annotator: match by term: Hydrocephalus ClinVar
HPO		 PMID:25741868 PMID:28492532 PMID:30471718 ORPHA:244 NCBI chr17:11,598,470...11,969,748
Ensembl chr17:11,598,470...11,969,748 		JBrowse link
G DNAI1 dynein axonemal intermediate chain 1 IAGP HPO ORPHA:244 NCBI chr 9:34,458,805...34,520,984
Ensembl chr 9:34,457,414...34,520,988 		JBrowse link
G DNAI2 dynein axonemal intermediate chain 2 IAGP HPO ORPHA:244 NCBI chr17:74,274,234...74,314,884
Ensembl chr17:74,274,234...74,314,886 		JBrowse link
G DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 IAGP HPO ORPHA:244 NCBI chr11:73,951,026...73,970,281
Ensembl chr11:73,951,014...73,970,366 		JBrowse link
G DNAL1 dynein axonemal light chain 1 IAGP HPO ORPHA:244 NCBI chr14:73,644,986...73,703,732
Ensembl chr14:73,644,875...73,703,732 		JBrowse link
G DOCK6 dedicator of cytokinesis 6 IAGP HPO PMID:21820096 MIM:614219 ORPHA:974 NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524 		JBrowse link
G DPH1 diphthamide biosynthesis 1 IAGP ClinVar Annotator: match by term: Hydrocephalus ClinVar
HPO		 PMID:25558065 PMID:25741868 PMID:30877278 ORPHA:459061 NCBI chr17:2,030,112...2,043,898
Ensembl chr17:2,030,137...2,043,898 		JBrowse link
G DPH2 diphthamide biosynthesis 2 IAGP HPO ORPHA:459061 NCBI chr 1:43,970,010...43,973,369
Ensembl chr 1:43,969,978...43,973,373 		JBrowse link
G DPYSL5 dihydropyrimidinase like 5 IAGP HPO ORPHA:7 NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351 		JBrowse link
G DRC1 dynein regulatory complex subunit 1 IAGP HPO ORPHA:244 NCBI chr 2:26,401,920...26,456,711
Ensembl chr 2:26,401,920...26,456,717 		JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP HPO MIM:300960 ORPHA:401973 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,089...48,528,716 		JBrowse link
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 IAGP HPO PMID:15884042 MIM:182212 NCBI chr 2:55,865,967...55,923,782
Ensembl chr 2:55,865,962...55,924,271 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 IAGP HPO PMID:15884042 MIM:182212 NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,878,497 		JBrowse link
G EMILIN1 elastin microfibril interfacer 1 IAGP HPO PMID:15884042 MIM:182212 NCBI chr 2:27,078,615...27,086,403
Ensembl chr 2:27,078,044...27,086,408 		JBrowse link
G EML1 EMAP like 1 IAGP HPO PMID:28556411 MIM:600348 NCBI chr14:99,737,722...99,942,060
Ensembl chr14:99,737,693...99,942,060 		JBrowse link
G EOGT EGF domain specific O-linked N-acetylglucosamine transferase IAGP HPO ORPHA:974 NCBI chr 3:68,975,225...69,013,684
Ensembl chr 3:68,975,217...69,013,684 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP HPO ORPHA:220295 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,773...45,370,918 		JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit IAGP HPO ORPHA:220295 NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,285...127,294,188 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO ORPHA:220295 ORPHA:84 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease IAGP HPO ORPHA:220295 NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995 		JBrowse link
G ERF ETS2 repressor factor IAGP HPO ORPHA:207 NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,131 		JBrowse link
G ESAM endothelial cell adhesion molecule IAGP HPO PMID:36996813 MIM:620371 NCBI chr11:124,753,126...124,762,290
Ensembl chr11:124,752,583...124,762,315 		JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO MIM:268300 NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640 		JBrowse link
G FAM111A FAM111 trypsin like peptidase A IAGP HPO PMID:23684011 MIM:602361 NCBI chr11:59,142,856...59,155,039
Ensembl chr11:59,142,703...59,155,042 		JBrowse link
G FAM20C FAM20C golgi associated secretory pathway kinase IAGP HPO MIM:259775 NCBI chr 7:192,571...260,772
Ensembl chr 7:192,034...260,772 		JBrowse link
G FANCA FA complementation group A IAGP HPO ORPHA:84 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977 		JBrowse link
G FANCB FA complementation group B IAGP HPO PMID:21910217 MIM:300514 MIM:314390 ORPHA:3412 ORPHA:84 NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255 		JBrowse link
G FANCC FA complementation group C IAGP HPO ORPHA:84 NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796 		JBrowse link
G FANCD2 FA complementation group D2 IAGP HPO PMID:17436244 MIM:227646 ORPHA:84 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,937 		JBrowse link
G FANCE FA complementation group E IAGP HPO ORPHA:84 NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,318...35,467,106 		JBrowse link
G FANCF FA complementation group F IAGP HPO ORPHA:84 NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823 		JBrowse link
G FANCG FA complementation group G IAGP HPO ORPHA:84 NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,820...35,082,444 		JBrowse link
G FANCI FA complementation group I IAGP HPO ORPHA:84 NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,854...89,318,091 		JBrowse link
G FANCL FA complementation group L IAGP HPO PMID:25754594 MIM:614083 ORPHA:84 NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410 		JBrowse link
G FANCM FA complementation group M IAGP HPO ORPHA:84 NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,909...45,200,890 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO PMID:15884042 PMID:21594993 MIM:182212 MIM:616914 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FBN2 fibrillin 2 IAGP HPO PMID:15884042 MIM:182212 NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185 		JBrowse link
G FBXL4 F-box and leucine rich repeat protein 4 IAGP HPO PMID:34602956 MIM:615471 NCBI chr 6:98,868,535...98,947,946
Ensembl chr 6:98,868,535...98,948,006 		JBrowse link
G FGF8 fibroblast growth factor 8 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO MIM:101600 MIM:613001 ORPHA:220386 ORPHA:93924 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP DNA:mutations:CDS:multiple
ClinVar Annotator: match by term: Hydrocephalus 		HPO
ClinVar
RGD		 PMID:7668257 PMID:7874170 PMID:11781872 PMID:12884424 PMID:18247426 More... MIM:101200 MIM:101600 MIM:123500 MIM:123790 MIM:207410 ORPHA:1555 ORPHA:207 ORPHA:87 ORPHA:93259, RGD:155782906 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO PMID:7493034 PMID:10377013 PMID:16411219 MIM:100800 MIM:187600 MIM:612247 MIM:616482 ORPHA:15 ORPHA:1860 ORPHA:53271 ORPHA:93262 ORPHA:93274 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,286...1,808,873 		JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 IAGP HPO MIM:194190 NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,008,649...1,026,901 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO ORPHA:3472 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G FKBP14 FKBP prolyl isomerase 14 IAGP HPO PMID:15884042 MIM:182212 NCBI chr 7:30,005,923...30,026,702
Ensembl chr 7:30,010,587...30,026,702 		JBrowse link
G FKRP fukutin related protein IAGP DNA:missense mutation:exon:p.M1V (c.1A>G) HPO
RGD		 PMID:15121789 PMID:15637732 PMID:20236121 MIM:236670 MIM:613153 ORPHA:370959 ORPHA:588 ORPHA:899, RGD:11667969 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FKTN fukutin IAGP HPO PMID:15637732 MIM:236670 MIM:253800 ORPHA:272 ORPHA:588 ORPHA:899 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G FLNA filamin A IAGP HPO MIM:304120 ORPHA:90652 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,638 		JBrowse link
G FLVCR2 FLVCR choline and putative heme transporter 2 IAGP HPO PMID:20206334 MIM:225790 NCBI chr14:75,578,620...75,648,167
Ensembl chr14:75,578,594...75,663,214 		JBrowse link
G FOXH1 forkhead box H1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,873 		JBrowse link
G FOXJ1 forkhead box J1 IAGP HPO ORPHA:244 NCBI chr17:76,136,333...76,141,245
Ensembl chr17:76,136,333...76,141,245 		JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 IAGP HPO MIM:219000 NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269 		JBrowse link
G FTO FTO alpha-ketoglutarate dependent dioxygenase IAGP HPO PMID:19559399 MIM:612938 NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512 		JBrowse link
G FUZ fuzzy planar cell polarity protein IAGP HPO MIM:182940 NCBI chr19:49,806,866...49,813,553
Ensembl chr19:49,806,866...49,817,376 		JBrowse link
G GALC galactosylceramidase IAGP HPO MIM:245200 ORPHA:206436 NCBI chr14:87,933,014...87,993,667
Ensembl chr14:87,837,820...87,993,665 		JBrowse link
G GAS1 growth arrest specific 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 9:86,944,362...86,947,506
Ensembl chr 9:86,944,362...86,947,506 		JBrowse link
G GAS2L2 growth arrest specific 2 like 2 IAGP HPO ORPHA:244 NCBI chr17:35,744,511...35,753,239
Ensembl chr17:35,744,511...35,753,260 		JBrowse link
G GAS8 growth arrest specific 8 IAGP HPO ORPHA:244 NCBI chr16:90,019,633...90,044,960
Ensembl chr16:90,019,629...90,044,975 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO MIM:231005 ORPHA:2072 ORPHA:85212 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,447...155,245,178 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase IAGP HPO PMID:27672653 PMID:32777384 MIM:231670 NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,128...12,915,126 		JBrowse link
G GFAP glial fibrillary acidic protein IAGP HPO MIM:203450 ORPHA:363717 NCBI chr17:44,903,159...44,915,500
Ensembl chr17:44,903,159...44,916,937 		JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO PMID:14581620 MIM:610829 ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO MIM:175700 ORPHA:380 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,265 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP HPO ORPHA:370959 ORPHA:588 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,985 		JBrowse link
G GNAQ G protein subunit alpha q IAGP HPO ORPHA:3205 NCBI chr 9:77,716,097...78,031,811
Ensembl chr 9:77,716,097...78,031,972 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP HPO ORPHA:567 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,776 		JBrowse link
G GPC3 glypican 3 IAGP HPO MIM:312870 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G GPC4 glypican 4 IAGP HPO MIM:312870 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,416,214 		JBrowse link
G GPR101 G protein-coupled receptor 101 IAGP HPO ORPHA:963 NCBI chr  X:137,023,929...137,033,995
Ensembl chr  X:137,023,929...137,033,995 		JBrowse link
G GPSM2 G protein signaling modulator 2 IAGP HPO PMID:22578326 MIM:604213 NCBI chr 1:108,876,985...108,934,545
Ensembl chr 1:108,875,350...108,934,545 		JBrowse link
G GRIP1 glutamate receptor interacting protein 1 IAGP HPO PMID:22510445 MIM:617667 NCBI chr12:66,347,431...67,069,338
Ensembl chr12:66,347,431...67,069,162 		JBrowse link
G GUSB glucuronidase beta IAGP HPO MIM:253220 NCBI chr 7:65,960,684...65,982,213
Ensembl chr 7:65,960,677...65,982,283 		JBrowse link
G H4C9 H4 clustered histone 9 IAGP HPO PMID:35202563 MIM:619951 NCBI chr 6:27,139,282...27,139,678
Ensembl chr 6:27,139,282...27,140,640 		JBrowse link
G HBA1 hemoglobin subunit alpha 1 IAGP HPO ORPHA:163596 NCBI chr16:176,680...177,522
Ensembl chr16:176,680...177,522 		JBrowse link
G HBA2 hemoglobin subunit alpha 2 IAGP HPO ORPHA:163596 NCBI chr16:172,876...173,710
Ensembl chr16:172,876...173,710 		JBrowse link
G HCCS holocytochrome c synthase IAGP HPO MIM:309801 ORPHA:2556 NCBI chr  X:11,111,332...11,123,086
Ensembl chr  X:11,111,299...11,123,086 		JBrowse link
G HDAC6 histone deacetylase 6 IAGP HPO MIM:300863 ORPHA:163966 NCBI chr  X:48,801,398...48,824,982
Ensembl chr  X:48,801,377...48,824,986 		JBrowse link
G HES7 hes family bHLH transcription factor 7 IAGP HPO PMID:18775957 MIM:613686 NCBI chr17:8,120,592...8,126,634
Ensembl chr17:8,120,592...8,124,106 		JBrowse link
G HIRA histone cell cycle regulator IAGP HPO ORPHA:567 NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,693...19,447,450 		JBrowse link
G HNRNPU heterogeneous nuclear ribonucleoprotein U IAGP HPO ORPHA:238769 NCBI chr 1:244,850,297...244,864,543
Ensembl chr 1:244,840,638...244,864,560 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO MIM:218040 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,343 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO ORPHA:1865 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G HYDIN HYDIN axonemal central pair apparatus protein IAGP HPO ORPHA:244 NCBI chr16:70,802,084...71,230,722
Ensembl chr16:70,802,084...71,230,722 		JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP HPO ORPHA:2189 ORPHA:475 NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,846 		JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial IAGP HPO PMID:28328135 MIM:616007 NCBI chr 1:220,094,132...220,148,041
Ensembl chr 1:220,094,107...220,148,041 		JBrowse link
G IDS iduronate 2-sulfatase IAGP HPO MIM:309900 NCBI chr  X:149,476,988...149,505,306
Ensembl chr  X:149,476,988...149,521,096 		JBrowse link
G IDUA alpha-L-iduronidase IAGP HPO MIM:607014 ORPHA:93473 NCBI chr 4:986,997...1,004,564
Ensembl chr 4:986,997...1,008,344 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP HPO MIM:615630 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,836 		JBrowse link
G IFT43 intraflagellar transport 43 IAGP HPO PMID:28400947 MIM:617866 NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585 		JBrowse link
G IFT56 intraflagellar transport 56 IAGP ClinVar Annotator: match by term: Hydrocephalus ClinVar
HPO		 PMID:25741868 PMID:31595528 PMID:34177428 MIM:619534 NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986 		JBrowse link
G IFT74 intraflagellar transport 74 IAGP HPO ORPHA:475 NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP HPO ORPHA:1454 ORPHA:220493 ORPHA:475 NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,618...136,439,882 		JBrowse link
G IPO8 importin 8 IAGP HPO PMID:15884042 MIM:182212 NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,981...30,695,883 		JBrowse link
G IRF4 interferon regulatory factor 4 IAGP HPO ORPHA:3452 NCBI chr 6:391,752...411,443
Ensembl chr 6:391,739...411,443 		JBrowse link
G JMJD1C jumonji domain containing 1C IAGP HPO ORPHA:567 NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850 		JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 IAGP HPO ORPHA:363958 ORPHA:363965 NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389 		JBrowse link
G KATNIP katanin interacting protein IAGP HPO ORPHA:475 NCBI chr16:27,550,144...27,780,344
Ensembl chr16:27,550,133...27,780,371 		JBrowse link
G KCNT1 potassium sodium-activated channel subfamily T member 1 IAGP ClinVar Annotator: match by term: Hydrocephalus ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:135,702,185...135,795,502
Ensembl chr 9:135,702,185...135,795,508 		JBrowse link
G KDM6A lysine demethylase 6A IAGP HPO PMID:30509212 PMID:31727177 MIM:147920 ORPHA:2322 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,130...45,112,779 		JBrowse link
G KIAA0586 KIAA0586 IAGP HPO PMID:26166481 MIM:616546 ORPHA:475 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G KIAA0753 KIAA0753 IAGP HPO ORPHA:475 NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711 		JBrowse link
G KIF26A kinesin family member 26A IAGP HPO PMID:36228617 MIM:620156 NCBI chr14:104,138,587...104,180,894
Ensembl chr14:104,136,454...104,180,894 		JBrowse link
G KIF7 kinesin family member 7 IAGP HPO PMID:21552264 MIM:614120 ORPHA:2189 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,098 		JBrowse link
G KMT2D lysine methyltransferase 2D IAGP HPO PMID:30509212 PMID:31727177 MIM:147920 ORPHA:2322 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:1340 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G L1CAM L1 cell adhesion molecule IAGP HPO PMID:1303258 PMID:1870106 MIM:303350 MIM:304100 MIM:307000 ORPHA:2182 NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,511...153,886,204 		JBrowse link
G LAMB1 laminin subunit beta 1 IAGP HPO PMID:23472759 MIM:615191 ORPHA:352682 NCBI chr 7:107,923,799...108,003,161
Ensembl chr 7:107,923,715...108,004,434 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO PMID:15637732 PMID:17436019 MIM:236670 MIM:613154 ORPHA:588 ORPHA:899 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,885 		JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP HPO MIM:194190 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,232 		JBrowse link
G LIG4 DNA ligase 4 IAGP HPO ORPHA:235 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368 		JBrowse link
G LMBR1 limb development membrane protein 1 IAGP HPO ORPHA:2378 NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,225 		JBrowse link
G LOX lysyl oxidase IAGP HPO PMID:15884042 MIM:182212 NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,634 		JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP HPO ORPHA:244 NCBI chr11:506,462...554,912
Ensembl chr11:536,841...554,925 		JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 IAGP HPO PMID:15884042 MIM:182212 NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930 		JBrowse link
G MAD2L2 mitotic arrest deficient 2 like 2 IAGP HPO ORPHA:84 NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,657,230...11,692,605 		JBrowse link
G MAF MAF bZIP transcription factor IAGP HPO ORPHA:1272 NCBI chr16:79,202,622...79,600,737
Ensembl chr16:79,585,843...79,600,737 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP HPO ORPHA:1340 NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,825...66,491,656 		JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 IAGP HPO ORPHA:1340 NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,317...4,124,216 		JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO ORPHA:85284 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,610...21,885,423 		JBrowse link
G MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein IAGP HPO ORPHA:244 NCBI chr 5:55,219,564...55,227,315
Ensembl chr 5:55,219,564...55,227,315 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO MIM:305450 ORPHA:93932 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MFAP5 microfibril associated protein 5 IAGP HPO PMID:15884042 MIM:182212 NCBI chr12:8,645,943...8,662,826
Ensembl chr12:8,637,346...8,672,519 		JBrowse link
G MFN2 mitofusin 2 IAGP HPO ORPHA:99947 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO MIM:249000 ORPHA:220493 ORPHA:475 ORPHA:564 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,350...58,219,605 		JBrowse link
G MMACHC metabolism of cobalamin associated C IAGP HPO MIM:277400 ORPHA:79282 NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382 		JBrowse link
G MNX1 motor neuron and pancreas homeobox 1 IAGP HPO ORPHA:1552 NCBI chr 7:157,004,854...157,010,663
Ensembl chr 7:156,994,051...157,010,663 		JBrowse link
G MPDZ multiple PDZ domain crumbs cell polarity complex component IAGP HPO PMID:23240096 MIM:615219 NCBI chr 9:13,105,707...13,279,692
Ensembl chr 9:13,104,620...13,279,790 		JBrowse link
G MT-CYB mitochondrially encoded cytochrome b IAGP HPO ORPHA:137675 NCBI chr MT:14,747...15,887
Ensembl chr MT:14,747...15,887 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase IAGP HPO ORPHA:395 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G MTM1 myotubularin 1 IAGP HPO MIM:310400 NCBI chr  X:150,562,653...150,673,143
Ensembl chr  X:150,568,417...150,673,143 		JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase IAGP HPO ORPHA:2169 NCBI chr 5:7,850,859...7,901,113
Ensembl chr 5:7,851,186...7,906,025 		JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP HPO MIM:208150 NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558 		JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP HPO PMID:30573562 PMID:37710961 MIM:620748 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,938,396...15,947,022 		JBrowse link
G MYT1L myelin transcription factor 1 like IAGP HPO PMID:28859103 MIM:616521 NCBI chr 2:1,789,113...2,331,275
Ensembl chr 2:1,789,113...2,331,664 		JBrowse link
G NADK2 NAD kinase 2, mitochondrial IAGP HPO PMID:27940755 MIM:616034 NCBI chr 5:36,192,589...36,242,279
Ensembl chr 5:36,192,589...36,242,279 		JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 IAGP HPO MIM:309801 ORPHA:2556 NCBI chr  X:47,142,216...47,145,491
Ensembl chr  X:47,142,071...47,145,466 		JBrowse link
G NEK1 NIMA related kinase 1 IAGP HPO MIM:252100 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,644 		JBrowse link
G NEK10 NIMA related kinase 10 IAGP HPO ORPHA:244 NCBI chr 3:27,106,484...27,369,383
Ensembl chr 3:27,106,484...27,369,460 		JBrowse link
G NEU1 neuraminidase 1 IAGP HPO ORPHA:93400 NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,063...31,862,905 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO MIM:162200 ORPHA:363700 NCBI chr17:31,094,977...31,377,675
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP HPO ORPHA:2495 ORPHA:637 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,546...29,698,598 		JBrowse link
G NFIX nuclear factor I X IAGP HPO PMID:26200704 MIM:602535 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		JBrowse link
G NKX3-2 NK3 homeobox 2 IAGP HPO PMID:20004766 MIM:613330 NCBI chr 4:13,540,830...13,547,744
Ensembl chr 4:13,540,830...13,544,508 		JBrowse link
G NME5 NME/NM23 family member 5 IAGP HPO ORPHA:244 NCBI chr 5:138,115,175...138,139,428
Ensembl chr 5:138,115,169...138,139,443 		JBrowse link
G NME8 NME/NM23 family member 8 IAGP HPO ORPHA:244 NCBI chr 7:37,848,597...37,900,397
Ensembl chr 7:37,848,597...37,900,397 		JBrowse link
G NODAL nodal growth differentiation factor IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951 		JBrowse link
G NOTCH1 notch receptor 1 IAGP HPO ORPHA:974 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048 		JBrowse link
G NOTCH2 notch receptor 2 IAGP HPO MIM:102500 ORPHA:955 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779 		JBrowse link
G NOTCH3 notch receptor 3 IAGP HPO PMID:25394726 MIM:130720 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,996 		JBrowse link
G NPHP1 nephrocystin 1 IAGP HPO ORPHA:220497 NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066 		JBrowse link
G NPR2 natriuretic peptide receptor 2 IAGP HPO PMID:15884042 MIM:182212 NCBI chr 9:35,791,591...35,809,731
Ensembl chr 9:35,791,003...35,809,732 		JBrowse link
G NPR3 natriuretic peptide receptor 3 IAGP HPO PMID:15884042 MIM:182212 NCBI chr 5:32,690,872...32,791,720
Ensembl chr 5:32,689,070...32,791,724 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO MIM:249400 ORPHA:626 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G NRCAM neuronal cell adhesion molecule IAGP HPO PMID:35108495 MIM:619833 NCBI chr 7:108,147,649...108,456,720
Ensembl chr 7:108,147,623...108,456,717 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP HPO MIM:194190 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,870,559...1,982,207 		JBrowse link
G NSUN2 NOP2/Sun RNA methyltransferase 2 IAGP HPO ORPHA:235 NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,237...6,633,304 		JBrowse link
G ODAD1 outer dynein arm docking complex subunit 1 IAGP HPO ORPHA:244 NCBI chr19:48,296,452...48,321,971
Ensembl chr19:48,296,355...48,321,971 		JBrowse link
G ODAD2 outer dynein arm docking complex subunit 2 IAGP HPO ORPHA:244 NCBI chr10:27,812,168...27,999,675
Ensembl chr10:27,775,186...27,999,532 		JBrowse link
G ODAD3 outer dynein arm docking complex subunit 3 IAGP HPO ORPHA:244 NCBI chr19:11,420,605...11,435,782
Ensembl chr19:11,420,604...11,435,782 		JBrowse link
G ODAD4 outer dynein arm docking complex subunit 4 IAGP HPO ORPHA:244 NCBI chr17:41,930,617...41,966,503
Ensembl chr17:41,930,617...41,966,503 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO MIM:311200 ORPHA:244 ORPHA:475 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,675...13,777,955 		JBrowse link
G OGDH oxoglutarate dehydrogenase IAGP HPO ORPHA:31 NCBI chr 7:44,606,627...44,709,066
Ensembl chr 7:44,606,549...44,709,070 		JBrowse link
G OSTM1 osteoclastogenesis associated transmembrane protein 1 IAGP HPO MIM:259720 NCBI chr 6:108,041,409...108,074,741
Ensembl chr 6:108,029,245...108,165,854 		JBrowse link
G P4HB prolyl 4-hydroxylase subunit beta IAGP HPO MIM:112240 NCBI chr17:81,843,166...81,860,535
Ensembl chr17:81,843,159...81,860,856 		JBrowse link
G PAK2 p21 (RAC1) activated kinase 2 IAGP HPO ORPHA:1571 NCBI chr 3:196,739,857...196,832,647
Ensembl chr 3:196,739,743...196,832,647 		JBrowse link
G PAK3 p21 (RAC1) activated kinase 3 IAGP HPO PMID:17853471 MIM:300558 NCBI chr  X:110,944,397...111,227,361
Ensembl chr  X:110,944,285...111,227,361 		JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP HPO ORPHA:84 NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321 		JBrowse link
G PDE6D phosphodiesterase 6D IAGP HPO ORPHA:475 NCBI chr 2:231,732,433...231,781,282
Ensembl chr 2:231,732,354...231,786,272 		JBrowse link
G PDGFB platelet derived growth factor subunit B IAGP HPO ORPHA:2495 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP ClinVar Annotator: match by term: Hydrocephalus ClinVar PMID:12181311 PMID:25292412 PMID:25741868 PMID:28334876 PMID:28492532 More... NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,158,260 		JBrowse link
G PEX19 peroxisomal biogenesis factor 19 IAGP HPO MIM:614886 NCBI chr 1:160,276,807...160,285,151
Ensembl chr 1:160,276,807...160,286,348 		JBrowse link
G PIBF1 progesterone immunomodulatory binding factor 1 IAGP HPO ORPHA:475 NCBI chr13:72,782,133...73,016,461
Ensembl chr13:72,781,641...73,017,823 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO ORPHA:2461 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G PIGU phosphatidylinositol glycan anchor biosynthesis class U IAGP HPO PMID:31353022 MIM:618590 NCBI chr20:34,560,542...34,677,092
Ensembl chr20:34,560,542...34,698,790 		JBrowse link
G PIGV phosphatidylinositol glycan anchor biosynthesis class V IAGP HPO PMID:20080219 MIM:239300 NCBI chr 1:26,787,054...26,800,659
Ensembl chr 1:26,787,054...26,800,659 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO MIM:602501 ORPHA:2495 ORPHA:60040 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 IAGP HPO PMID:22729224 MIM:603387 ORPHA:83473 NCBI chr19:18,153,163...18,170,532
Ensembl chr19:18,153,160...18,170,541 		JBrowse link
G PLCH1 phospholipase C eta 1 IAGP HPO PMID:33820834 MIM:619895 ORPHA:93925 NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,085 		JBrowse link
G PLG plasminogen IAGP HPO PMID:9242524 MIM:217090 ORPHA:722 NCBI chr 6:160,702,193...160,754,097
Ensembl chr 6:160,702,105...160,754,097 		JBrowse link
G PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 IAGP ClinVar Annotator: match by term: Nonsyndromal hydrocephalus ClinVar
HPO		 PMID:15884042 PMID:25741868 MIM:182212 NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,542 		JBrowse link
G PMEPA1 prostate transmembrane protein, androgen induced 1 IAGP HPO PMID:15884042 MIM:182212 NCBI chr20:57,648,396...57,711,472
Ensembl chr20:57,648,392...57,711,536 		JBrowse link
G POLR1A RNA polymerase I subunit A IAGP HPO PMID:37075751 MIM:616462 NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO MIM:264090 ORPHA:3455 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,549 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP ClinVar Annotator: match by term: Hydrocephalus ClinVar
HPO		 PMID:15236414 PMID:25741868 MIM:253280 ORPHA:370959 ORPHA:588 ORPHA:899 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,681...46,220,305 		JBrowse link
G POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) IAGP HPO PMID:22958903 MIM:614830 ORPHA:899 NCBI chr 3:43,079,234...43,106,079
Ensembl chr 3:43,079,229...43,106,085 		JBrowse link
G POMK protein O-mannose kinase IAGP HPO PMID:24925318 MIM:615249 ORPHA:370959 ORPHA:899 NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO PMID:15637732 PMID:16575835 MIM:236670 MIM:613155 ORPHA:370959 ORPHA:588 ORPHA:899 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP HPO PMID:15637732 PMID:15894594 MIM:236670 MIM:613150 ORPHA:370959 ORPHA:588 ORPHA:899 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G POR cytochrome p450 oxidoreductase IAGP HPO MIM:207410 ORPHA:95699 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
G PORCN porcupine O-acyltransferase IAGP HPO MIM:305600 NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,574...48,520,814 		JBrowse link
G PPIL1 peptidylprolyl isomerase like 1 IAGP HPO PMID:33220177 MIM:619301 NCBI chr 6:36,854,829...36,874,803
Ensembl chr 6:36,854,825...36,875,003 		JBrowse link
G PPP1CB protein phosphatase 1 catalytic subunit beta IAGP HPO ORPHA:2701 NCBI chr 2:28,751,604...28,802,940
Ensembl chr 2:28,751,562...28,802,940 		JBrowse link
G PPP2R1A protein phosphatase 2 scaffold subunit Aalpha IAGP HPO PMID:25533962 MIM:616362 ORPHA:457284 NCBI chr19:52,190,052...52,229,518
Ensembl chr19:52,170,936...52,229,518 		JBrowse link
G PPP2R5D protein phosphatase 2 regulatory subunit B'delta IAGP HPO PMID:25533962 PMID:26168268 MIM:616355 NCBI chr 6:42,984,570...43,012,342
Ensembl chr 6:42,984,538...43,012,346 		JBrowse link
G PRDX1 peroxiredoxin 1 IAGP HPO MIM:277400 NCBI chr 1:45,511,051...45,522,890
Ensembl chr 1:45,510,914...45,542,816 		JBrowse link
G PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2 IAGP HPO PMID:15877279 MIM:261740 NCBI chr 7:151,556,127...151,877,115
Ensembl chr 7:151,556,117...151,877,507 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO MIM:101800 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
G PSAP prosaposin IAGP HPO ORPHA:206436 NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,289...71,851,330 		JBrowse link
G PTCH1 patched 1 IAGP HPO PMID:11941477 MIM:109400 MIM:610828 ORPHA:220386 ORPHA:377 ORPHA:77301 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G PTCH2 patched 2 IAGP HPO ORPHA:377 NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,154...44,843,253 		JBrowse link
G PTDSS1 phosphatidylserine synthase 1 IAGP HPO ORPHA:2658 NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:2969 ORPHA:65285 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G PYCR1 pyrroline-5-carboxylate reductase 1 IAGP HPO PMID:19576563 MIM:612940 NCBI chr17:81,932,391...81,937,300
Ensembl chr17:81,932,378...81,942,412 		JBrowse link
G RAC3 Rac family small GTPase 3 IAGP HPO PMID:30293988 MIM:618577 NCBI chr17:82,031,678...82,034,204
Ensembl chr17:82,031,637...82,034,204 		JBrowse link
G RAD51 RAD51 recombinase IAGP HPO PMID:26681308 MIM:617244 ORPHA:84 NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,344 		JBrowse link
G RAD51C RAD51 paralog C IAGP HPO ORPHA:84 NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:626 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201 		JBrowse link
G RBPJ recombination signal binding protein for immunoglobulin kappa J region IAGP HPO ORPHA:974 NCBI chr 4:26,105,449...26,435,131
Ensembl chr 4:26,163,455...26,435,131 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO PMID:15964893 MIM:218600 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G RFWD3 ring finger and WD repeat domain 3 IAGP HPO ORPHA:84 NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,393...74,666,912 		JBrowse link
G RNASEH2A ribonuclease H2 subunit A IAGP HPO MIM:610333 NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,505...12,813,643 		JBrowse link
G RNF125 ring finger protein 125 IAGP HPO PMID:25196541 MIM:616260 NCBI chr18:32,018,825...32,090,806
Ensembl chr18:32,018,174...32,088,144 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO PMID:21474761 MIM:210710 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,880...121,531,009 		JBrowse link
G ROBO1 roundabout guidance receptor 1 IAGP HPO PMID:29194579 PMID:30692597 PMID:35227688 MIM:620305 NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998 		JBrowse link
G ROGDI rogdi atypical leucine zipper IAGP HPO ORPHA:1946 NCBI chr16:4,796,968...4,802,633
Ensembl chr16:4,796,962...4,802,926 		JBrowse link
G RPGR retinitis pigmentosa GTPase regulator IAGP HPO ORPHA:244 NCBI chr  X:38,269,163...38,327,509
Ensembl chr  X:38,269,163...38,327,544 		JBrowse link
G RPGRIP1 RPGR interacting protein 1 IAGP HPO ORPHA:564 NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP HPO ORPHA:1454 ORPHA:220497 ORPHA:564 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G RREB1 ras responsive element binding protein 1 IAGP HPO ORPHA:567 NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,418...7,251,982 		JBrowse link
G RSPH1 radial spoke head component 1 IAGP HPO ORPHA:244 NCBI chr21:42,472,486...42,496,224
Ensembl chr21:42,472,486...42,496,366 		JBrowse link
G RSPH3 radial spoke head 3 IAGP HPO ORPHA:244 NCBI chr 6:158,962,980...159,000,202
Ensembl chr 6:158,970,084...159,000,202 		JBrowse link
G RSPH4A radial spoke head component 4A IAGP HPO ORPHA:244 NCBI chr 6:116,616,479...116,632,985
Ensembl chr 6:116,616,479...116,632,985 		JBrowse link
G RSPH9 radial spoke head component 9 IAGP HPO ORPHA:244 NCBI chr 6:43,645,036...43,672,600
Ensembl chr 6:43,644,229...43,672,604 		JBrowse link
G RSPO2 R-spondin 2 IAGP HPO ORPHA:3301 NCBI chr 8:107,899,316...108,083,620
Ensembl chr 8:107,899,316...108,083,790 		JBrowse link
G RXYLT1 ribitol xylosyltransferase 1 IAGP HPO ORPHA:899 NCBI chr12:63,779,909...63,809,562
Ensembl chr12:63,779,833...63,809,792 		JBrowse link
G SALL1 spalt like transcription factor 1 IAGP HPO PMID:11478532 MIM:107480 NCBI chr16:51,135,982...51,152,334
Ensembl chr16:51,135,982...51,152,683 		JBrowse link
G SAMD9 sterile alpha motif domain containing 9 IAGP HPO PMID:27182967 MIM:617053 NCBI chr 7:93,099,518...93,117,979
Ensembl chr 7:93,099,513...93,118,023 		JBrowse link
G SEC24C SEC24 homolog C, COPII coat complex component IAGP HPO ORPHA:567 NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,366...73,772,173 		JBrowse link
G SEC24D SEC24 homolog D, COPII coat complex component IAGP HPO PMID:25683121 MIM:616294 NCBI chr 4:118,722,823...118,836,126
Ensembl chr 4:118,722,822...118,838,683 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP HPO PMID:32710489 MIM:620155 MIM:620157 NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113 		JBrowse link
G SF3B2 splicing factor 3b subunit 2 IAGP HPO MIM:164210 NCBI chr11:66,052,364...66,069,308
Ensembl chr11:66,050,729...66,069,308 		JBrowse link
G SF3B4 splicing factor 3b subunit 4 IAGP HPO MIM:154400 NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803 		JBrowse link
G SHH sonic hedgehog signaling molecule IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G SHOC2 SHOC2 leucine rich repeat scaffold protein IAGP HPO ORPHA:2701 NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,917,932...111,017,307 		JBrowse link
G SIK3 SIK family kinase 3 IAGP HPO PMID:30232230 MIM:618162 NCBI chr11:116,843,402...117,098,428
Ensembl chr11:116,843,402...117,098,445 		JBrowse link
G SIX3 SIX homeobox 3 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071 		JBrowse link
G SKI SKI proto-oncogene IAGP HPO PMID:15884042 MIM:182212 NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213 		JBrowse link
G SLC13A5 solute carrier family 13 member 5 IAGP HPO ORPHA:1946 NCBI chr17:6,684,719...6,713,369
Ensembl chr17:6,684,715...6,713,377 		JBrowse link
G SLC17A5 solute carrier family 17 member 5 IAGP HPO MIM:269920 NCBI chr 6:73,593,379...73,653,992
Ensembl chr 6:73,593,364...73,654,014 		JBrowse link
G SLC25A24 solute carrier family 25 member 24 IAGP HPO MIM:612289 NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849 		JBrowse link
G SLC29A3 solute carrier family 29 member 3 IAGP HPO ORPHA:168569 NCBI chr10:71,319,259...71,381,423
Ensembl chr10:71,319,259...71,381,423 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 IAGP HPO PMID:15884042 MIM:182212 NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,577...46,736,347 		JBrowse link
G SLC32A1 solute carrier family 32 member 1 IAGP HPO PMID:36073542 MIM:620774 NCBI chr20:38,724,486...38,729,372
Ensembl chr20:38,724,486...38,729,372 		JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit IAGP HPO ORPHA:84 NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606 		JBrowse link
G SMAD2 SMAD family member 2 IAGP HPO PMID:15884042 MIM:182212 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,569 		JBrowse link
G SMAD3 SMAD family member 3 IAGP HPO PMID:15884042 MIM:182212 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G SMARCB1 SWI/SNF related BAF chromatin remodeling complex subunit B1 IAGP HPO ORPHA:2495 ORPHA:99966 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G SMARCE1 SWI/SNF related BAF chromatin remodeling complex subunit E1 IAGP HPO ORPHA:2495 NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO ORPHA:220386 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G SMO smoothened, frizzled class receptor IAGP HPO MIM:241800 ORPHA:2495 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,511...129,213,546 		JBrowse link
G SMOC1 SPARC related modular calcium binding 1 IAGP HPO ORPHA:1106 NCBI chr14:69,879,416...70,032,366
Ensembl chr14:69,854,131...70,032,366 		JBrowse link
G SNX10 sorting nexin 10 IAGP HPO ORPHA:667 NCBI chr 7:26,291,862...26,374,383
Ensembl chr 7:26,291,862...26,374,383 		JBrowse link
G SOX2 SRY-box transcription factor 2 IAGP HPO ORPHA:77298 NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436 		JBrowse link
G SOX5 SRY-box transcription factor 5 IAGP HPO ORPHA:626 NCBI chr12:23,529,504...24,562,650
Ensembl chr12:23,529,504...24,562,544 		JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO MIM:114290 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G SPAG1 sperm associated antigen 1 IAGP HPO ORPHA:244 NCBI chr 8:100,158,038...100,241,904
Ensembl chr 8:100,157,906...100,259,278 		JBrowse link
G SPEF2 sperm flagellar 2 IAGP HPO ORPHA:244 NCBI chr 5:35,617,863...35,814,611
Ensembl chr 5:35,617,844...35,814,611 		JBrowse link
G SPTBN1 spectrin beta, non-erythrocytic 1 IAGP HPO PMID:34211179 MIM:619475 NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,288...54,671,446 		JBrowse link
G STAG2 STAG2 cohesin complex component IAGP HPO ORPHA:220386 ORPHA:93925 NCBI chr  X:123,960,560...124,102,656
Ensembl chr  X:123,960,212...124,422,664 		JBrowse link
G STIL STIL centriolar assembly protein IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892 		JBrowse link
G STK36 serine/threonine kinase 36 IAGP HPO ORPHA:244 NCBI chr 2:218,672,086...218,702,717
Ensembl chr 2:218,672,052...218,702,717 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP HPO PMID:19533801 MIM:620343 ORPHA:2495 ORPHA:377 ORPHA:475 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,952...102,633,535 		JBrowse link
G SUMF1 sulfatase modifying factor 1 IAGP HPO MIM:272200 ORPHA:585 NCBI chr 3:4,034,486...4,467,269
Ensembl chr 3:3,700,814...4,467,273 		JBrowse link
G TAF2 TATA-box binding protein associated factor 2 IAGP HPO PMID:22633631 MIM:615599 ORPHA:397951 NCBI chr 8:119,730,774...119,832,841
Ensembl chr 8:119,730,774...119,832,863 		JBrowse link
G TAOK1 TAO kinase 1 IAGP HPO PMID:33565190 MIM:619575 NCBI chr17:29,390,363...29,551,903
Ensembl chr17:29,390,351...29,551,903 		JBrowse link
G TBC1D7 TBC1 domain family member 7 IAGP HPO PMID:24515783 MIM:248000 NCBI chr 6:13,304,951...13,328,537
Ensembl chr 6:13,266,542...13,328,583 		JBrowse link
G TBCK TBC1 domain containing kinase IAGP HPO PMID:36522252 MIM:616900 NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683 		JBrowse link
G TBX1 T-box transcription factor 1 IAGP HPO ORPHA:567 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G TBX15 T-box transcription factor 15 IAGP HPO MIM:260660 NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556 		JBrowse link
G TBX4 T-box transcription factor 4 IAGP HPO ORPHA:3301 NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,451,906...61,485,110 		JBrowse link
G TBXT T-box transcription factor T IAGP HPO MIM:182940 NCBI chr 6:166,157,656...166,168,655
Ensembl chr 6:166,157,656...166,168,815 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO PMID:10888887 MIM:259700 ORPHA:667 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895 		JBrowse link
G TCOF1 treacle ribosome biogenesis factor 1 IAGP HPO PMID:15214011 PMID:24108658 MIM:154500 NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,491 		JBrowse link
G TCTN1 tectonic family member 1 IAGP HPO ORPHA:475 ORPHA:564 NCBI chr12:110,614,129...110,649,430
Ensembl chr12:110,614,027...110,663,431 		JBrowse link
G TCTN2 tectonic family member 2 IAGP HPO ORPHA:475 ORPHA:564 NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399 		JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO ORPHA:475 ORPHA:564 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO ORPHA:2495 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,085 		JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP HPO PMID:15884042 MIM:182212 NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619 		JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP HPO PMID:15884042 MIM:182212 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,026 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP HPO PMID:15731757 PMID:15884042 PMID:16928994 MIM:182212 MIM:609192 NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO PMID:15731757 PMID:15884042 PMID:16283890 PMID:18084123 PMID:19875893 MIM:182212 MIM:610168 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G TGIF1 TGFB induced factor homeobox 1 IAGP HPO ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978 		JBrowse link
G THSD4 thrombospondin type 1 domain containing 4 IAGP HPO PMID:15884042 MIM:182212 NCBI chr15:71,096,894...71,783,383
Ensembl chr15:71,096,952...71,783,383 		JBrowse link
G TMEM107 transmembrane protein 107 IAGP HPO ORPHA:564 NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,405 		JBrowse link
G TMEM138 transmembrane protein 138 IAGP HPO ORPHA:2318 NCBI chr11:61,362,374...61,376,870
Ensembl chr11:61,361,964...61,377,890 		JBrowse link
G TMEM216 transmembrane protein 216 IAGP HPO PMID:20036350 MIM:608091 ORPHA:2318 ORPHA:564 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866 		JBrowse link
G TMEM218 transmembrane protein 218 IAGP HPO ORPHA:475 NCBI chr11:125,094,389...125,111,626
Ensembl chr11:125,094,386...125,111,870 		JBrowse link
G TMEM222 transmembrane protein 222 IAGP HPO PMID:33824500 MIM:619470 NCBI chr 1:27,322,163...27,336,400
Ensembl chr 1:27,322,139...27,336,401 		JBrowse link
G TMEM231 transmembrane protein 231 IAGP HPO ORPHA:2318 ORPHA:564 NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289 		JBrowse link
G TMEM237 transmembrane protein 237 IAGP HPO PMID:22152675 MIM:614424 ORPHA:220497 ORPHA:2318 ORPHA:475 ORPHA:564 NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO MIM:607361 ORPHA:1454 ORPHA:475 ORPHA:564 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TNFRSF11A TNF receptor superfamily member 11a IAGP HPO PMID:18606301 MIM:612301 NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,269...62,391,288 		JBrowse link
G TNFSF11 TNF superfamily member 11 IAGP HPO PMID:17632511 MIM:259710 ORPHA:667 NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013 		JBrowse link
G TOE1 target of EGR1, exonuclease IAGP HPO PMID:28092684 MIM:614969 NCBI chr 1:45,340,170...45,343,973
Ensembl chr 1:45,340,012...45,343,976 		JBrowse link
G TOGARAM1 TOG array regulator of axonemal microtubules 1 IAGP HPO ORPHA:475 NCBI chr14:44,962,190...45,074,431
Ensembl chr14:44,962,190...45,074,431 		JBrowse link
G TP53 tumor protein p53 IAGP HPO MIM:260500 ORPHA:2807 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G TRAF7 TNF receptor associated factor 7 IAGP HPO ORPHA:2495 NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,692...2,178,129 		JBrowse link
G TREM2 triggering receptor expressed on myeloid cells 2 IAGP HPO ORPHA:2770 NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,488...41,163,186 		JBrowse link
G TRMT1 tRNA methyltransferase 1 IAGP HPO PMID:30289604 MIM:618302 NCBI chr19:13,104,907...13,116,740
Ensembl chr19:13,104,899...13,117,567 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO ORPHA:2635 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G TSC1 TSC complex subunit 1 IAGP HPO ORPHA:538 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874 		JBrowse link
G TSC2 TSC complex subunit 2 IAGP HPO ORPHA:538 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,345...2,089,491 		JBrowse link
G TTC12 tetratricopeptide repeat domain 12 IAGP HPO ORPHA:244 NCBI chr11:113,314,583...113,373,297
Ensembl chr11:113,314,579...113,383,544 		JBrowse link
G TXNDC15 thioredoxin domain containing 15 IAGP HPO ORPHA:564 NCBI chr 5:134,873,770...134,901,635
Ensembl chr 5:134,874,318...134,901,635 		JBrowse link
G TYROBP transmembrane immune signaling adaptor TYROBP IAGP HPO ORPHA:2770 NCBI chr19:35,904,403...35,908,295
Ensembl chr19:35,904,401...35,908,301 		JBrowse link
G UBE2T ubiquitin conjugating enzyme E2 T IAGP HPO ORPHA:84 NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,328,714...202,341,984 		JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 IAGP HPO ORPHA:567 NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,215 		JBrowse link
G UNC45A unc-45 myosin chaperone A IAGP HPO PMID:29429573 MIM:619377 NCBI chr15:90,930,180...90,954,093
Ensembl chr15:90,930,180...90,954,093 		JBrowse link
G USP7 ubiquitin specific peptidase 7 IAGP HPO ORPHA:500055 NCBI chr16:8,892,097...8,963,906
Ensembl chr16:8,892,097...8,975,328 		JBrowse link
G VAC14 VAC14 component of PIKFYVE complex IAGP HPO ORPHA:3472 NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,173 		JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 IAGP HPO PMID:17409324 MIM:182940 MIM:600145 NCBI chr 1:115,641,970...115,698,221
Ensembl chr 1:115,641,854...115,698,224 		JBrowse link
G VANGL2 VANGL planar cell polarity protein 2 IAGP HPO MIM:182940 NCBI chr 1:160,400,564...160,428,670
Ensembl chr 1:160,400,564...160,428,678 		JBrowse link
G VPS33A VPS33A core subunit of CORVET and HOPS complexes IAGP HPO ORPHA:505248 NCBI chr12:122,229,564...122,266,494
Ensembl chr12:122,229,564...122,266,502 		JBrowse link
G VPS35L VPS35 endosomal protein sorting factor like IAGP HPO ORPHA:7 NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793 		JBrowse link
G VSX1 visual system homeobox 1 IAGP HPO PMID:15051220 MIM:614195 NCBI chr20:25,070,880...25,082,141
Ensembl chr20:25,070,885...25,082,141 		JBrowse link
G WASHC5 WASH complex subunit 5 IAGP HPO MIM:220210 ORPHA:7 NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819 		JBrowse link
G WDR81 WD repeat domain 81 IAGP HPO PMID:28556411 MIM:617967 NCBI chr17:1,716,523...1,738,585
Ensembl chr17:1,716,523...1,738,599 		JBrowse link
G WNT3 Wnt family member 3 IAGP HPO MIM:273395 ORPHA:3301 NCBI chr17:46,762,506...46,818,692
Ensembl chr17:46,762,506...46,833,154 		JBrowse link
G XRCC2 X-ray repair cross complementing 2 IAGP HPO ORPHA:84 NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193 		JBrowse link
G ZBTB20 zinc finger and BTB domain containing 20 IAGP HPO ORPHA:3042 NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,356 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO ORPHA:626 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 IAGP HPO PMID:24702427 MIM:610187 NCBI chr 8:105,318,438...105,804,539
Ensembl chr 8:104,590,733...105,804,539 		JBrowse link
G ZIC2 Zic family member 2 IAGP HPO PMID:19955556 PMID:30855487 MIM:609637 ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765 		JBrowse link
G ZIC3 Zic family member 3 IAGP HPO PMID:8298651 PMID:21465648 MIM:306955 MIM:314390 NCBI chr  X:137,566,127...137,577,691
Ensembl chr  X:137,563,314...137,577,691 		JBrowse link
G ZMYND10 zinc finger MYND-type containing 10 IAGP HPO ORPHA:244 NCBI chr 3:50,341,112...50,345,732
Ensembl chr 3:50,341,110...50,345,732 		JBrowse link
G ZNF423 zinc finger protein 423 IAGP HPO ORPHA:2318 NCBI chr16:49,487,524...49,859,279
Ensembl chr16:49,487,524...49,857,919 		JBrowse link
G ZNHIT3 zinc finger HIT-type containing 3 IAGP HPO ORPHA:2836 NCBI chr17:36,486,681...36,499,312
Ensembl chr17:36,486,629...36,499,310 		JBrowse link
G ZPR1 ZPR1 zinc finger IAGP HPO PMID:29851065 MIM:619321 NCBI chr11:116,773,799...116,788,023
Ensembl chr11:116,773,799...116,788,046 		JBrowse link
Lateral ventricle dilatation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS2 alanyl-tRNA synthetase 2, mitochondrial IAGP HPO PMID:24808023 MIM:615889 NCBI chr 6:44,298,731...44,313,347
Ensembl chr 6:44,298,726...44,313,347 		JBrowse link
G ADNP activity dependent neuroprotector homeobox IAGP HPO PMID:24531329 MIM:615873 NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437 		JBrowse link
G AHI1 Abelson helper integration site 1 IAGP HPO PMID:15322546 MIM:608629 NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434 		JBrowse link
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 IAGP HPO PMID:23835272 MIM:614105 NCBI chr14:74,056,847...74,084,453
Ensembl chr14:74,056,847...74,084,492 		JBrowse link
G ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase IAGP HPO ORPHA:79326 NCBI chr 9:99,216,425...99,221,942
Ensembl chr 9:99,216,425...99,221,942 		JBrowse link
G ASPM assembly factor for spindle microtubules IAGP HPO PMID:29644084 MIM:608716 NCBI chr 1:197,084,127...197,146,669
Ensembl chr 1:197,084,121...197,146,694 		JBrowse link
G ASXL3 ASXL transcriptional regulator 3 IAGP HPO PMID:24044690 MIM:615485 NCBI chr18:33,578,219...33,751,195
Ensembl chr18:33,578,219...33,751,195 		JBrowse link
G ATP6AP2 ATPase H+ transporting accessory protein 2 IAGP HPO ORPHA:363654 NCBI chr  X:40,580,970...40,606,848
Ensembl chr  X:40,579,372...40,606,848 		JBrowse link
G BICD2 BICD cargo adaptor 2 IAGP HPO PMID:27751653 MIM:618291 NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833 		JBrowse link
G CCDC174 coiled-coil domain containing 174 IAGP HPO PMID:26358778 MIM:616816 NCBI chr 3:14,651,762...14,672,655
Ensembl chr 3:14,651,762...14,672,659 		JBrowse link
G CLCN3 chloride voltage-gated channel 3 IAGP HPO PMID:34186028 MIM:619517 NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,438...169,723,673 		JBrowse link
G CLTC clathrin heavy chain IAGP HPO PMID:29100083 MIM:617854 NCBI chr17:59,619,895...59,696,956
Ensembl chr17:59,619,680...59,696,956 		JBrowse link
G COASY Coenzyme A synthase IAGP HPO PMID:30089828 MIM:618266 NCBI chr17:42,562,148...42,566,277
Ensembl chr17:42,561,467...42,566,277 		JBrowse link
G COG1 component of oligomeric golgi complex 1 IAGP HPO PMID:19008299 MIM:611209 NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,038...73,209,422 		JBrowse link
G COG5 component of oligomeric golgi complex 5 IAGP HPO ORPHA:263487 NCBI chr 7:107,201,372...107,563,920
Ensembl chr 7:107,201,372...107,564,261 		JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO ORPHA:397715 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,381...67,196,778 		JBrowse link
G CUX1 cut like homeobox 1 IAGP HPO PMID:30014507 MIM:618330 NCBI chr 7:101,816,007...102,283,958
Ensembl chr 7:101,815,904...102,283,958 		JBrowse link
G D2HGDH D-2-hydroxyglutarate dehydrogenase IAGP HPO MIM:600721 NCBI chr 2:241,734,630...241,768,811
Ensembl chr 2:241,734,596...241,768,816 		JBrowse link
G DCX doublecortin IAGP HPO ORPHA:2148 NCBI chr  X:111,293,779...111,412,192
Ensembl chr  X:111,293,779...111,412,429 		JBrowse link
G DOCK6 dedicator of cytokinesis 6 IAGP HPO PMID:21820096 MIM:614219 NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524 		JBrowse link
G DTYMK deoxythymidylate kinase IAGP HPO PMID:34918187 MIM:619847 NCBI chr 2:241,675,747...241,686,815
Ensembl chr 2:241,675,742...241,686,944 		JBrowse link
G EBF3 EBF transcription factor 3 IAGP HPO ORPHA:96148 NCBI chr10:129,835,233...129,964,274
Ensembl chr10:129,835,233...129,973,053 		JBrowse link
G EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon IAGP HPO PMID:17646634 MIM:620315 NCBI chr 3:184,135,358...184,145,311
Ensembl chr 3:184,135,038...184,146,127 		JBrowse link
G EML1 EMAP like 1 IAGP HPO PMID:28556411 MIM:600348 NCBI chr14:99,737,722...99,942,060
Ensembl chr14:99,737,693...99,942,060 		JBrowse link
G ESAM endothelial cell adhesion molecule IAGP HPO PMID:36996813 MIM:620371 NCBI chr11:124,753,126...124,762,290
Ensembl chr11:124,752,583...124,762,315 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IAGP HPO MIM:277590 NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,330 		JBrowse link
G FBXW11 F-box and WD repeat domain containing 11 IAGP HPO PMID:31402090 MIM:618914 NCBI chr 5:171,861,549...172,006,638
Ensembl chr 5:171,861,548...172,006,873 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP ClinVar Annotator: match by term: Lateral ventricle dilatation ClinVar PMID:7874170 PMID:11781872 PMID:12884424 PMID:20643727 PMID:23348274 More... NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G GAN gigaxonin IAGP HPO PMID:20949505 MIM:256850 NCBI chr16:81,314,962...81,390,809
Ensembl chr16:81,314,944...81,390,884 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase IAGP HPO MIM:231670 NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,128...12,915,126 		JBrowse link
G GFM2 GTP dependent ribosome recycling factor mitochondrial 2 IAGP HPO ORPHA:565624 NCBI chr 5:74,721,206...74,767,117
Ensembl chr 5:74,721,206...74,767,147 		JBrowse link
G GLUL glutamate-ammonia ligase IAGP HPO PMID:16267323 MIM:610015 NCBI chr 1:182,378,098...182,391,790
Ensembl chr 1:182,378,098...182,392,206 		JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 IAGP HPO ORPHA:208447 NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756 		JBrowse link
G GRN granulin precursor IAGP HPO MIM:607485 NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,108...44,353,106 		JBrowse link
G HS6ST2 heparan sulfate 6-O-sulfotransferase 2 IAGP HPO PMID:30471091 MIM:301025 NCBI chr  X:132,626,015...132,961,370
Ensembl chr  X:132,626,015...132,961,395 		JBrowse link
G IFT56 intraflagellar transport 56 IAGP HPO PMID:31595528 MIM:619534 NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986 		JBrowse link
G KCNJ6 potassium inwardly rectifying channel subfamily J member 6 IAGP HPO PMID:25620207 MIM:614098 NCBI chr21:37,607,373...37,916,457
Ensembl chr21:37,607,373...38,121,345 		JBrowse link
G KCTD1 potassium channel tetramerization domain containing 1 IAGP HPO PMID:23541344 MIM:181270 NCBI chr18:26,454,910...26,657,473
Ensembl chr18:26,454,910...26,657,401 		JBrowse link
G KDM6A lysine demethylase 6A IAGP HPO PMID:30509212 MIM:147920 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,130...45,112,779 		JBrowse link
G KIAA0586 KIAA0586 IAGP HPO ORPHA:397715 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G KIAA0753 KIAA0753 IAGP HPO PMID:29138412 MIM:619479 NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711 		JBrowse link
G KIDINS220 kinase D interacting substrate 220 IAGP HPO PMID:27005418 MIM:617296 NCBI chr 2:8,721,081...8,837,613
Ensembl chr 2:8,721,081...8,837,630 		JBrowse link
G KLHL15 kelch like family member 15 IAGP HPO PMID:24817631 MIM:300982 NCBI chr  X:23,983,720...24,027,186
Ensembl chr  X:23,983,716...24,027,186 		JBrowse link
G KMT2D lysine methyltransferase 2D IAGP HPO PMID:30509212 MIM:147920 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO PMID:17436019 MIM:613154 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,885 		JBrowse link
G LIPT2 lipoyl(octanoyl) transferase 2 IAGP HPO PMID:28757203 MIM:617668 NCBI chr11:74,490,519...74,493,724
Ensembl chr11:74,490,519...74,493,724 		JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP HPO ORPHA:79243 NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572 		JBrowse link
G MAPKAPK5 MAPK activated protein kinase 5 IAGP HPO PMID:33442026 MIM:619869 NCBI chr12:111,842,228...111,902,222
Ensembl chr12:111,842,013...111,902,222 		JBrowse link
G MED25 mediator complex subunit 25 IAGP HPO ORPHA:464738 NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,277...49,840,383 		JBrowse link
G MEF2C myocyte enhancer factor 2C IAGP HPO PMID:19592390 MIM:613443 NCBI chr 5:88,717,117...88,904,105
Ensembl chr 5:88,717,117...88,904,257 		JBrowse link
G MTHFS methenyltetrahydrofolate synthetase IAGP HPO PMID:30031689 MIM:618367 NCBI chr15:79,843,547...79,897,285
Ensembl chr15:79,833,585...79,897,379 		JBrowse link
G NAA80 N-alpha-acetyltransferase 80, NatH catalytic subunit IAGP HPO PMID:34805998 MIM:620830 NCBI chr 3:50,296,402...50,299,405
Ensembl chr 3:50,296,402...50,299,416 		JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 IAGP HPO PMID:25772934 MIM:300952 NCBI chr  X:47,142,216...47,145,491
Ensembl chr  X:47,142,071...47,145,466 		JBrowse link
G NEK1 NIMA related kinase 1 IAGP HPO MIM:263520 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,644 		JBrowse link
G NFIX nuclear factor I X IAGP HPO ORPHA:420179 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		JBrowse link
G ODC1 ornithine decarboxylase 1 IAGP HPO ORPHA:544488 NCBI chr 2:10,439,968...10,448,327
Ensembl chr 2:10,439,968...10,450,116 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 IAGP HPO ORPHA:79243 NCBI chr  X:19,343,927...19,361,718
Ensembl chr  X:19,343,893...19,361,718 		JBrowse link
G PGAP3 post-GPI attachment to proteins phospholipase 3 IAGP HPO PMID:24439110 MIM:615716 NCBI chr17:39,671,122...39,688,057
Ensembl chr17:39,671,122...39,696,797 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO PMID:22305531 MIM:300868 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G PPP2R5D protein phosphatase 2 regulatory subunit B'delta IAGP HPO ORPHA:457279 NCBI chr 6:42,984,570...43,012,342
Ensembl chr 6:42,984,538...43,012,346 		JBrowse link
G PSAT1 phosphoserine aminotransferase 1 IAGP HPO ORPHA:284417 NCBI chr 9:78,297,125...78,330,093
Ensembl chr 9:78,297,094...78,330,098 		JBrowse link
G PTPN23 protein tyrosine phosphatase non-receptor type 23 IAGP HPO PMID:29090338 MIM:618890 NCBI chr 3:47,381,021...47,413,435
Ensembl chr 3:47,381,011...47,413,442 		JBrowse link
G PUS3 pseudouridine synthase 3 IAGP HPO ORPHA:488627 NCBI chr11:125,893,485...125,903,206
Ensembl chr11:125,893,485...125,903,224 		JBrowse link
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 IAGP HPO PMID:30730599 MIM:619420 NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,283...135,176,667 		JBrowse link
G RAC1 Rac family small GTPase 1 IAGP HPO PMID:28886345 MIM:617751 NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,098...6,403,998 		JBrowse link
G RBMX RNA binding motif protein X-linked IAGP HPO ORPHA:3078 NCBI chr  X:136,869,192...136,880,725
Ensembl chr  X:136,848,004...136,880,764 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO PMID:21474761 MIM:210710 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,880...121,531,009 		JBrowse link
G RNU7-1 RNA, U7 small nuclear 1 IAGP HPO PMID:33230297 MIM:619487 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878 		JBrowse link
G SATB1 SATB homeobox 1 IAGP HPO PMID:33513338 MIM:619229 NCBI chr 3:18,345,377...18,445,592
Ensembl chr 3:18,345,377...18,445,621 		JBrowse link
G SLC35A2 solute carrier family 35 member A2 IAGP HPO PMID:34122512 MIM:300896 ORPHA:356961 NCBI chr  X:48,903,183...48,911,958
Ensembl chr  X:48,903,180...48,911,958 		JBrowse link
G SMAD2 SMAD family member 2 IAGP HPO PMID:30157302 MIM:619657 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,569 		JBrowse link
G SMG9 SMG9 nonsense mediated mRNA decay factor IAGP HPO PMID:35087184 MIM:619995 NCBI chr19:43,727,983...43,754,962
Ensembl chr19:43,727,983...43,755,054 		JBrowse link
G SNRPN small nuclear ribonucleoprotein polypeptide N IAGP HPO ORPHA:177907 NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723 		JBrowse link
G SON SON DNA and RNA binding protein IAGP HPO ORPHA:500150 NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP HPO ORPHA:2822 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G SPRED2 sprouty related EVH1 domain containing 2 IAGP HPO PMID:34626534 MIM:619745 NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637 		JBrowse link
G SRPK3 SRSF protein kinase 3 IAGP HPO PMID:39073169 MIM:301134 NCBI chr  X:153,781,041...153,785,730
Ensembl chr  X:153,781,001...153,785,768 		JBrowse link
G TAF8 TATA-box binding protein associated factor 8 IAGP HPO PMID:29648665 MIM:619972 NCBI chr 6:42,050,524...42,087,462
Ensembl chr 6:42,050,513...42,087,461 		JBrowse link
G TAOK1 TAO kinase 1 IAGP HPO PMID:33565190 MIM:619575 NCBI chr17:29,390,363...29,551,903
Ensembl chr17:29,390,351...29,551,903 		JBrowse link
G TMEM147 transmembrane protein 147 IAGP HPO PMID:36044892 MIM:620075 NCBI chr19:35,545,626...35,547,526
Ensembl chr19:35,545,600...35,547,527 		JBrowse link
G TNFRSF11A TNF receptor superfamily member 11a IAGP HPO PMID:18606301 MIM:612301 NCBI chr18:62,325,310...62,391,288
Ensembl chr18:62,325,269...62,391,288 		JBrowse link
G TREM2 triggering receptor expressed on myeloid cells 2 IAGP HPO PMID:12370476 MIM:221770 NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,488...41,163,186 		JBrowse link
G TTC5 tetratricopeptide repeat domain 5 IAGP HPO PMID:32439809 MIM:619244 NCBI chr14:20,286,227...20,305,951
Ensembl chr14:20,256,558...20,305,963 		JBrowse link
G TUBB2B tubulin beta 2B class IIb IAGP HPO ORPHA:300573 NCBI chr 6:3,224,277...3,227,653
Ensembl chr 6:3,223,324...3,231,730 		JBrowse link
G TUBB3 tubulin beta 3 class III IAGP HPO ORPHA:300570 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761 		JBrowse link
G TYROBP transmembrane immune signaling adaptor TYROBP IAGP HPO PMID:12370476 MIM:221770 NCBI chr19:35,904,403...35,908,295
Ensembl chr19:35,904,401...35,908,301 		JBrowse link
G USP18 ubiquitin specific peptidase 18 IAGP HPO PMID:31940699 MIM:617397 NCBI chr22:18,150,170...18,177,397
Ensembl chr22:18,148,399...18,177,397 		JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A IAGP HPO PMID:28446873 MIM:200150 ORPHA:2388 NCBI chr 9:77,177,534...77,421,537
Ensembl chr 9:77,177,445...77,421,537 		JBrowse link
G VPS51 VPS51 subunit of GARP complex IAGP HPO PMID:31207318 MIM:618606 NCBI chr11:65,096,214...65,111,862
Ensembl chr11:65,089,324...65,111,862 		JBrowse link
G VRK1 VRK serine/threonine kinase 1 IAGP HPO PMID:19646678 MIM:607596 NCBI chr14:96,797,382...96,881,609
Ensembl chr14:96,797,304...96,954,846 		JBrowse link
G WARS2 tryptophanyl tRNA synthetase 2, mitochondrial IAGP HPO ORPHA:572798 NCBI chr 1:119,031,216...119,140,672
Ensembl chr 1:119,030,284...119,140,673 		JBrowse link
G YIPF5 Yip1 domain family member 5 IAGP HPO PMID:33164986 MIM:619278 NCBI chr 5:144,158,162...144,170,659
Ensembl chr 5:144,158,162...144,170,714 		JBrowse link
G YY1 YY1 transcription factor IAGP HPO PMID:28575647 MIM:617557 NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO ORPHA:261537 ORPHA:261552 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
G ZIC1 Zic family member 1 IAGP HPO PMID:26340333 MIM:616602 MIM:618736 NCBI chr 3:147,409,365...147,416,719
Ensembl chr 3:147,393,422...147,510,293 		JBrowse link
G ZIC2 Zic family member 2 IAGP HPO PMID:32695376 MIM:609637 NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765 		JBrowse link
Lateral ventricular asymmetry term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBN1 fibrillin 1 IAGP HPO PMID:21594993 MIM:616914 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO PMID:17096318 MIM:610829 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
Mild fetal ventriculomegaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASXL2 ASXL transcriptional regulator 2 IAGP HPO PMID:27693232 MIM:617190 NCBI chr 2:25,733,753...25,878,487
Ensembl chr 2:25,733,753...25,878,487 		JBrowse link
G CDC42BPB CDC42 binding protein kinase beta IAGP HPO PMID:32031333 MIM:619841 NCBI chr14:102,932,380...103,057,549
Ensembl chr14:102,932,380...103,057,549 		JBrowse link
G DPYSL5 dihydropyrimidinase like 5 IAGP HPO PMID:33894126 MIM:619435 NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP ClinVar Annotator: match by term: Mild fetal ventriculomegaly ClinVar PMID:7874170 PMID:11781872 PMID:12884424 PMID:20643727 PMID:23348274 More... NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G MRPS16 mitochondrial ribosomal protein S16 IAGP HPO PMID:15505824 MIM:610498 NCBI chr10:73,248,849...73,252,644
Ensembl chr10:73,248,843...73,252,693 		JBrowse link
G MYT1L myelin transcription factor 1 like IAGP HPO ORPHA:647799 NCBI chr 2:1,789,113...2,331,275
Ensembl chr 2:1,789,113...2,331,664 		JBrowse link
Noncommunicating hydrocephalus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BICRA BRD4 interacting chromatin remodeling complex associated protein IAGP HPO PMID:33232675 MIM:619325 NCBI chr19:47,608,196...47,703,277
Ensembl chr19:47,608,196...47,703,277 		JBrowse link
G DLG5 discs large MAGUK scaffold protein 5 IAGP HPO PMID:30791088 PMID:32631816 MIM:620703 NCBI chr10:77,790,791...77,940,736
Ensembl chr10:77,790,778...77,927,220 		JBrowse link
G FOXJ1 forkhead box J1 IAGP HPO PMID:31630787 MIM:618699 NCBI chr17:76,136,333...76,141,245
Ensembl chr17:76,136,333...76,141,245 		JBrowse link
G IFNG interferon gamma IAGP HPO ORPHA:805 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G KDM4B lysine demethylase 4B IAGP HPO PMID:33232677 MIM:619320 NCBI chr19:4,969,113...5,153,598
Ensembl chr19:4,969,107...5,153,611 		JBrowse link
G SMARCC1 SWI/SNF related BAF chromatin remodeling complex subunit C1 IAGP HPO PMID:29983323 MIM:620241 NCBI chr 3:47,585,269...47,781,893
Ensembl chr 3:47,585,269...47,782,106 		JBrowse link
G TSC1 TSC complex subunit 1 IAGP HPO ORPHA:805 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874 		JBrowse link
G TSC2 TSC complex subunit 2 IAGP HPO ORPHA:805 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,345...2,089,491 		JBrowse link
Normal pressure hydrocephalus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFAP43 cilia and flagella associated protein 43 IAGP ClinVar Annotator: match by term: Normal pressure hydrocephalus ClinVar
HPO		 PMID:25741868 PMID:29449551 PMID:31004071 MIM:236690 NCBI chr10:104,129,888...104,232,364
Ensembl chr10:104,129,888...104,232,364 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO MIM:133540 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP HPO MIM:216400 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073 		JBrowse link
G PMPCA peptidase, mitochondrial processing subunit alpha IAGP ClinVar Annotator: match by term: Normal pressure hydrocephalus ClinVar PMID:10528257 PMID:25808372 NCBI chr 9:136,410,658...136,423,761
Ensembl chr 9:136,410,630...136,427,992 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO PMID:36090556 MIM:620351 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G SPIN4 spindlin family member 4 IAGP HPO PMID:36927955 MIM:301114 NCBI chr  X:63,347,228...63,351,332
Ensembl chr  X:63,347,228...63,351,332 		JBrowse link
G TUBB3 tubulin beta 3 class III IAGP HPO ORPHA:300570 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761 		JBrowse link
Progressive ventriculomegaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GFAP glial fibrillary acidic protein IAGP ClinVar Annotator: match by term: Progressive ventriculomegaly ClinVar PMID:25741868 NCBI chr17:44,903,159...44,915,500
Ensembl chr17:44,903,159...44,916,937 		JBrowse link
G SON SON DNA and RNA binding protein IAGP HPO ORPHA:500150 NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481 		JBrowse link
Severe hydrocephalus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP290 centrosomal protein 290 IAGP ClinVar Annotator: match by term: Severe hydrocephalus ClinVar PMID:16909394 PMID:17345604 PMID:17564974 PMID:17705300 PMID:20690115 More... NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP HPO PMID:2074561 MIM:236680 NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,846 		JBrowse link
G L1CAM L1 cell adhesion molecule IAGP ClinVar Annotator: match by term: Severe hydrocephalus ClinVar PMID:7881431 PMID:9300653 PMID:25741868 PMID:31680349 NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,511...153,886,204 		JBrowse link
G LAMA5 laminin subunit alpha 5 IAGP ClinVar Annotator: match by term: Severe hydrocephalus ClinVar PMID:25741868 PMID:28492532 PMID:28735299 PMID:29534211 PMID:31680349 NCBI chr20:62,309,065...62,367,312
Ensembl chr20:62,307,955...62,367,312 		JBrowse link
G POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) IAGP ClinVar Annotator: match by term: Severe hydrocephalus ClinVar PMID:22958903 PMID:25558065 PMID:25741868 PMID:28492532 PMID:31130284 NCBI chr 3:43,079,234...43,106,079
Ensembl chr 3:43,079,229...43,106,085 		JBrowse link
G TRAPPC12 trafficking protein particle complex subunit 12 IAGP ClinVar Annotator: match by term: Severe hydrocephalus ClinVar NCBI chr 2:3,379,694...3,479,565
Ensembl chr 2:3,379,674...3,485,094 		JBrowse link
G ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 IAGP ClinVar Annotator: match by term: Severe hydrocephalus ClinVar PMID:11003938 PMID:25679214 PMID:25741868 PMID:31680349 PMID:38158857 NCBI chr  X:15,790,484...15,823,260
Ensembl chr  X:15,790,106...15,830,694 		JBrowse link
Slit-like lateral ventricle term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC4A10 solute carrier family 4 member 10 IAGP HPO PMID:38054405 MIM:620746 NCBI chr 2:161,624,416...161,985,270
Ensembl chr 2:161,424,332...161,985,282 		JBrowse link
Subependymal cysts term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHDC1 AT-hook DNA binding motif containing 1 IAGP HPO PMID:27148574 MIM:615829 NCBI chr 1:27,534,245...27,604,227
Ensembl chr 1:27,534,035...27,604,431 		JBrowse link
G D2HGDH D-2-hydroxyglutarate dehydrogenase IAGP HPO MIM:600721 NCBI chr 2:241,734,630...241,768,811
Ensembl chr 2:241,734,596...241,768,816 		JBrowse link
G GLUL glutamate-ammonia ligase IAGP HPO PMID:16267323 MIM:610015 NCBI chr 1:182,378,098...182,391,790
Ensembl chr 1:182,378,098...182,392,206 		JBrowse link
G PDHX pyruvate dehydrogenase complex component X IAGP HPO MIM:245349 NCBI chr11:34,915,920...34,996,128
Ensembl chr11:34,915,829...35,020,591 		JBrowse link
G PEX1 peroxisomal biogenesis factor 1 IAGP HPO MIM:214100 NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,640 		JBrowse link
G PLCH1 phospholipase C eta 1 IAGP HPO PMID:33820834 MIM:619895 NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,085 		JBrowse link
G RRAGC Ras related GTP binding C IAGP HPO PMID:37057673 MIM:620609 NCBI chr 1:38,838,198...38,859,772
Ensembl chr 1:38,838,198...38,859,772 		JBrowse link
G TUBGCP2 tubulin gamma complex component 2 IAGP HPO PMID:31630790 MIM:618737 NCBI chr10:133,278,635...133,312,337
Ensembl chr10:133,278,635...133,318,823 		JBrowse link
G TXN2 thioredoxin 2 IAGP HPO PMID:26626369 MIM:616811 ORPHA:478029 NCBI chr22:36,467,046...36,481,640
Ensembl chr22:36,466,895...36,482,072 		JBrowse link
Subependymal nodules term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GCDH glutaryl-CoA dehydrogenase IAGP HPO ORPHA:25 NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,128...12,915,126 		JBrowse link
G IFNG interferon gamma IAGP HPO PMID:11112665 PMID:29196670 MIM:613254 ORPHA:805 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740 		JBrowse link
G TSC1 TSC complex subunit 1 IAGP DNA:nonsense mutation:exon:p.R509X (c.1525C>T) HPO
RGD		 PMID:29196670 PMID:25900779 MIM:191100 ORPHA:805, RGD:11073512 NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874 		JBrowse link
G TSC2 TSC complex subunit 2 IAGP HPO PMID:11112665 PMID:29196670 MIM:613254 ORPHA:805 NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,345...2,089,491 		JBrowse link
Ventriculomegaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707 		JBrowse link
G ABCD1 ATP binding cassette subfamily D member 1 IAGP HPO ORPHA:369942 NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,495...153,744,755 		JBrowse link
G ACBD6 acyl-CoA binding domain containing 6 IAGP HPO PMID:37951597 MIM:620785 NCBI chr 1:180,269,653...180,502,577
Ensembl chr 1:180,269,653...180,502,954 		JBrowse link
G ACD ACD shelterin complex subunit and telomerase recruitment factor IAGP HPO ORPHA:3322 NCBI chr16:67,657,512...67,660,260
Ensembl chr16:67,657,512...67,660,810 		JBrowse link
G ACP5 acid phosphatase 5, tartrate resistant IAGP HPO ORPHA:1855 NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993 		JBrowse link
G ACTA2 actin alpha 2, smooth muscle IAGP HPO ORPHA:2573 NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339 		JBrowse link
G ACTB actin beta IAGP HPO MIM:243310 NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902 		JBrowse link
G ACTG1 actin gamma 1 IAGP HPO MIM:614583 NCBI chr17:81,509,971...81,512,799
Ensembl chr17:81,509,413...81,523,847 		JBrowse link
G ADAR adenosine deaminase RNA specific IAGP HPO ORPHA:51 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G ADAT3 adenosine deaminase tRNA specific 3 IAGP HPO PMID:23620220 MIM:615286 NCBI chr19:1,905,399...1,913,447
Ensembl chr19:1,905,399...1,913,447 		JBrowse link
G ADGRG1 adhesion G protein-coupled receptor G1 IAGP HPO PMID:11845408 MIM:606854 ORPHA:101070 NCBI chr16:57,619,738...57,665,567
Ensembl chr16:57,610,652...57,665,580 		JBrowse link
G ADNP activity dependent neuroprotector homeobox IAGP HPO PMID:24531329 MIM:615873 ORPHA:404448 NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437 		JBrowse link
G AFF3 ALF transcription elongation factor 3 IAGP HPO PMID:33961779 MIM:619297 NCBI chr 2:99,545,419...100,142,590
Ensembl chr 2:99,545,419...100,192,428 		JBrowse link
G AHCY adenosylhomocysteinase IAGP HPO ORPHA:88618 NCBI chr20:34,231,981...34,311,836
Ensembl chr20:34,280,268...34,311,802 		JBrowse link
G AHDC1 AT-hook DNA binding motif containing 1 IAGP HPO PMID:39359946 MIM:615829 NCBI chr 1:27,534,245...27,604,227
Ensembl chr 1:27,534,035...27,604,431 		JBrowse link
G AKT3 AKT serine/threonine kinase 3 IAGP HPO MIM:615937 ORPHA:99802 NCBI chr 1:243,488,233...243,851,079
Ensembl chr 1:243,488,233...243,851,079 		JBrowse link
G ALDH7A1 aldehyde dehydrogenase 7 family member A1 IAGP ClinVar Annotator: match by term: Ventriculomegaly HPO
ClinVar		 PMID:9536098 PMID:16491085 PMID:17068770 PMID:17576681 PMID:18717709 More... ORPHA:3006 NCBI chr 5:126,541,841...126,595,219
Ensembl chr 5:126,531,200...126,595,362 		JBrowse link
G ALG12 ALG12 alpha-1,6-mannosyltransferase IAGP HPO ORPHA:79324 NCBI chr22:49,859,311...49,918,438
Ensembl chr22:49,900,229...49,918,458 		JBrowse link
G ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase IAGP HPO PMID:33644825 MIM:607906 NCBI chr 9:99,216,425...99,221,942
Ensembl chr 9:99,216,425...99,221,942 		JBrowse link
G ALG8 ALG8 alpha-1,3-glucosyltransferase IAGP HPO ORPHA:79325 NCBI chr11:78,100,946...78,139,626
Ensembl chr11:78,095,244...78,139,660 		JBrowse link
G ALPK3 alpha kinase 3 IAGP HPO PMID:26846950 MIM:618052 NCBI chr15:84,817,356...84,873,479
Ensembl chr15:84,817,176...84,873,479 		JBrowse link
G ALPL alkaline phosphatase, biomineralization associated IAGP HPO PMID:18834968 MIM:612394 NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410 		JBrowse link
G AMBN ameloblastin IAGP HPO PMID:18834968 MIM:612394 NCBI chr 4:70,592,256...70,607,288
Ensembl chr 4:70,592,256...70,607,288 		JBrowse link
G AMPD2 adenosine monophosphate deaminase 2 IAGP HPO PMID:23911318 MIM:615809 NCBI chr 1:109,619,837...109,632,055
Ensembl chr 1:109,616,104...109,632,055 		JBrowse link
G ANKLE2 ankyrin repeat and LEM domain containing 2 IAGP HPO ORPHA:2512 NCBI chr12:132,725,503...132,761,832
Ensembl chr12:132,725,503...132,761,832 		JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 IAGP HPO ORPHA:261250 NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,619...89,490,561 		JBrowse link
G ANTXR1 ANTXR cell adhesion molecule 1 IAGP HPO MIM:230740 NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327 		JBrowse link
G AP1S2 adaptor related protein complex 1 subunit sigma 2 IAGP HPO PMID:17617514 MIM:304340 ORPHA:1568 NCBI chr  X:15,825,806...15,854,813
Ensembl chr  X:15,825,806...15,854,931 		JBrowse link
G AP4B1 adaptor related protein complex 4 subunit beta 1 IAGP HPO MIM:614066 NCBI chr 1:113,894,194...113,905,028
Ensembl chr 1:113,894,194...113,905,722 		JBrowse link
G AP4E1 adaptor related protein complex 4 subunit epsilon 1 IAGP HPO PMID:20972249 MIM:613744 NCBI chr15:50,907,492...51,005,895
Ensembl chr15:50,908,672...51,005,895 		JBrowse link
G AP4M1 adaptor related protein complex 4 subunit mu 1 IAGP HPO PMID:19559397 MIM:612936 NCBI chr 7:100,100,794...100,109,039
Ensembl chr 7:100,100,841...100,110,345 		JBrowse link
G APC2 APC regulator of WNT signaling pathway 2 IAGP HPO PMID:31585108 MIM:618677 ORPHA:821 NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244 		JBrowse link
G ARHGAP31 Rho GTPase activating protein 31 IAGP HPO MIM:100300 NCBI chr 3:119,294,383...119,420,714
Ensembl chr 3:119,294,352...119,420,714 		JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP HPO ORPHA:251056 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779 		JBrowse link
G ARMC9 armadillo repeat containing 9 IAGP HPO PMID:28625504 MIM:617622 NCBI chr 2:231,198,631...231,376,848
Ensembl chr 2:231,198,546...231,376,848 		JBrowse link
G ARX aristaless related homeobox IAGP ClinVar Annotator: match by term: Ventriculomegaly ClinVar
HPO		 PMID:25741868 MIM:300215 MIM:308350 ORPHA:452 NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420 		JBrowse link
G ASNS asparagine synthetase (glutamine-hydrolyzing) IAGP HPO PMID:27469131 MIM:615574 NCBI chr 7:97,851,677...97,928,441
Ensembl chr 7:97,851,677...97,872,542 		JBrowse link
G ASPM assembly factor for spindle microtubules IAGP HPO MIM:608716 ORPHA:2512 NCBI chr 1:197,084,127...197,146,669
Ensembl chr 1:197,084,121...197,146,694 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO ORPHA:97297 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,266...32,439,319 		JBrowse link
G ASXL2 ASXL transcriptional regulator 2 IAGP HPO PMID:27693232 MIM:617190 NCBI chr 2:25,733,753...25,878,487
Ensembl chr 2:25,733,753...25,878,487 		JBrowse link
G ATP11A ATPase phospholipid transporting 11A IAGP HPO PMID:34403372 MIM:619851 NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,689,911...112,887,168 		JBrowse link
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 IAGP HPO PMID:30388404 MIM:618314 NCBI chr 1:116,373,244...116,404,774
Ensembl chr 1:116,372,668...116,410,261 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP ClinVar Annotator: match by term: Ventriculomegaly ClinVar
HPO		 PMID:22842232 PMID:25741868 PMID:26297560 PMID:26410222 PMID:28492532 More... MIM:619606 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497 		JBrowse link
G ATP6V1A ATPase H+ transporting V1 subunit A IAGP HPO PMID:28065471 MIM:617403 NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056 		JBrowse link
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 IAGP HPO ORPHA:899 NCBI chr 1:235,439,796...235,504,452
Ensembl chr 1:235,447,190...235,504,474 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO PMID:18834968 MIM:612394 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G B3GAT3 beta-1,3-glucuronyltransferase 3 IAGP HPO PMID:18834968 MIM:612394 NCBI chr11:62,615,296...62,621,986
Ensembl chr11:62,615,296...62,622,154 		JBrowse link
G B3GLCT beta 3-glucosyltransferase IAGP HPO MIM:261540 ORPHA:709 NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276 		JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 IAGP HPO PMID:18834968 MIM:612394 NCBI chr 5:177,600,132...177,610,330
Ensembl chr 5:177,600,114...177,611,056 		JBrowse link
G B4GAT1 beta-1,4-glucuronyltransferase 1 IAGP HPO PMID:23359570 MIM:615287 ORPHA:899 NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,638 		JBrowse link
G BCAP31 B cell receptor associated protein 31 IAGP HPO ORPHA:369942 NCBI chr  X:153,700,492...153,724,387
Ensembl chr  X:153,698,006...153,725,957 		JBrowse link
G BGN biglycan IAGP HPO PMID:27632686 MIM:300989 NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,488,654...153,510,299 		JBrowse link
G BICD2 BICD cargo adaptor 2 IAGP HPO MIM:618291 NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833 		JBrowse link
G BLTP1 bridge-like lipid transfer protein family member 1 IAGP HPO MIM:617822 NCBI chr 4:122,152,331...122,362,752
Ensembl chr 4:122,152,331...122,364,167 		JBrowse link
G BMP1 bone morphogenetic protein 1 IAGP HPO PMID:18834968 MIM:612394 NCBI chr 8:22,165,372...22,212,326
Ensembl chr 8:22,165,140...22,212,326 		JBrowse link
G BMP2 bone morphogenetic protein 2 IAGP HPO ORPHA:261295 NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,251 		JBrowse link
G BMP4 bone morphogenetic protein 4 IAGP HPO PMID:18252212 MIM:607932 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP HPO ORPHA:84 NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,292...43,170,245 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO ORPHA:84 NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G BRD4 bromodomain containing 4 IAGP HPO ORPHA:199 NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545 		JBrowse link
G BRF1 BRF1 general transcription factor IIIB subunit IAGP HPO PMID:25561519 MIM:616202 ORPHA:444072 NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,277...105,315,589 		JBrowse link
G BRIP1 BRCA1 interacting DNA helicase 1 IAGP HPO ORPHA:84 NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,561 		JBrowse link
G BUB1 BUB1 mitotic checkpoint serine/threonine kinase IAGP HPO PMID:35044816 MIM:620183 ORPHA:1052 NCBI chr 2:110,637,528...110,678,063
Ensembl chr 2:110,636,333...110,678,078 		JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B IAGP HPO MIM:257300 ORPHA:1052 NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,136 		JBrowse link
G BUB3 BUB3 mitotic checkpoint protein IAGP HPO ORPHA:1052 NCBI chr10:123,154,402...123,170,467
Ensembl chr10:123,154,395...123,170,467 		JBrowse link
G C12orf57 chromosome 12 open reading frame 57 IAGP HPO MIM:218340 NCBI chr12:6,943,433...6,946,003
Ensembl chr12:6,942,938...6,946,003 		JBrowse link
G CACNA1I calcium voltage-gated channel subunit alpha1 I IAGP ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868 NCBI chr22:39,570,753...39,689,735
Ensembl chr22:39,570,753...39,689,735 		JBrowse link
G CARS1 cysteinyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613 		JBrowse link
G CASZ1 castor zinc finger 1 IAGP HPO ORPHA:1606 NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP HPO PMID:22241855 MIM:612285 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,602,097 		JBrowse link
G CCDC134 coiled-coil domain containing 134 IAGP HPO PMID:18834968 MIM:612394 NCBI chr22:41,800,679...41,832,164
Ensembl chr22:41,800,321...41,832,172 		JBrowse link
G CCDC22 coiled-coil domain containing 22 IAGP HPO ORPHA:7 NCBI chr  X:49,235,470...49,250,520
Ensembl chr  X:49,235,444...49,250,526 		JBrowse link
G CCDC39 coiled-coil domain 39 molecular ruler complex subunit IAGP HPO ORPHA:244 NCBI chr 3:180,614,008...180,679,489
Ensembl chr 3:180,602,858...180,684,942 		JBrowse link
G CCDC40 coiled-coil domain 40 molecular ruler complex subunit IAGP HPO ORPHA:244 NCBI chr17:80,036,642...80,100,613
Ensembl chr17:80,036,632...80,100,613 		JBrowse link
G CCDC65 coiled-coil domain containing 65 IAGP HPO ORPHA:244 NCBI chr12:48,904,133...48,921,576
Ensembl chr12:48,904,110...48,931,840 		JBrowse link
G CCDC88A coiled-coil domain containing 88A IAGP HPO PMID:26917597 MIM:617507 NCBI chr 2:55,287,842...55,419,856
Ensembl chr 2:55,287,818...55,420,042 		JBrowse link
G CCDC88C coiled-coil domain containing 88C IAGP HPO PMID:21031079 MIM:236600 NCBI chr14:91,271,323...91,417,820
Ensembl chr14:91,271,323...91,417,844 		JBrowse link
G CCND2 cyclin D2 IAGP HPO PMID:24705253 MIM:615938 NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,306,933 		JBrowse link
G CCNO cyclin O IAGP HPO ORPHA:244 NCBI chr 5:55,231,152...55,233,608
Ensembl chr 5:55,231,152...55,233,608 		JBrowse link
G CDC42 cell division cycle 42 IAGP HPO PMID:26708094 MIM:616737 ORPHA:487796 NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360 		JBrowse link
G CDK10 cyclin dependent kinase 10 IAGP HPO PMID:28886341 MIM:617694 NCBI chr16:89,686,689...89,696,354
Ensembl chr16:89,680,737...89,696,369 		JBrowse link
G CDK5RAP2 CDK5 regulatory subunit associated protein 2 IAGP HPO ORPHA:2512 NCBI chr 9:120,388,875...120,580,167
Ensembl chr 9:120,388,875...120,580,172 		JBrowse link
G CDK6 cyclin dependent kinase 6 IAGP HPO ORPHA:2512 NCBI chr 7:92,604,921...92,836,573
Ensembl chr 7:92,604,921...92,836,591 		JBrowse link
G CDK8 cyclin dependent kinase 8 IAGP ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868 NCBI chr13:26,254,129...26,405,238
Ensembl chr13:26,253,891...26,420,982 		JBrowse link
G CELF2 CUGBP Elav-like family member 2 IAGP HPO PMID:33131106 MIM:619561 NCBI chr10:10,462,550...11,336,675
Ensembl chr10:10,798,397...11,336,675 		JBrowse link
G CENPE centromere protein E IAGP HPO ORPHA:2512 NCBI chr 4:103,105,811...103,198,343
Ensembl chr 4:103,105,349...103,198,463 		JBrowse link
G CEP120 centrosomal protein 120 IAGP HPO PMID:27208211 MIM:617761 NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592 		JBrowse link
G CEP135 centrosomal protein 135 IAGP HPO ORPHA:2512 NCBI chr 4:55,948,945...56,033,361
Ensembl chr 4:55,948,819...56,033,361 		JBrowse link
G CEP152 centrosomal protein 152 IAGP HPO ORPHA:2512 NCBI chr15:48,729,083...48,811,069
Ensembl chr15:48,712,928...48,811,146 		JBrowse link
G CEP57 centrosomal protein 57 IAGP HPO ORPHA:1052 NCBI chr11:95,790,014...95,832,693
Ensembl chr11:95,789,965...95,832,693 		JBrowse link
G CEP63 centrosomal protein 63 IAGP HPO ORPHA:2512 NCBI chr 3:134,485,724...134,782,559
Ensembl chr 3:134,485,699...134,587,789 		JBrowse link
G CFAP221 cilia and flagella associated protein 221 IAGP HPO ORPHA:244 NCBI chr 2:119,544,449...119,660,323
Ensembl chr 2:119,544,432...119,662,251 		JBrowse link
G CFAP298 cilia and flagella associated protein 298 IAGP HPO ORPHA:244 NCBI chr21:32,599,354...32,612,377
Ensembl chr21:32,592,079...32,612,845 		JBrowse link
G CFAP300 cilia and flagella associated protein 300 IAGP HPO ORPHA:244 NCBI chr11:102,047,437...102,084,554
Ensembl chr11:102,047,435...102,084,554 		JBrowse link
G CFAP74 cilia and flagella associated protein 74 IAGP HPO ORPHA:244 NCBI chr 1:1,921,957...2,003,786
Ensembl chr 1:1,921,951...2,003,837 		JBrowse link
G CHD3 chromodomain helicase DNA binding protein 3 IAGP HPO MIM:618205 NCBI chr17:7,884,796...7,912,755
Ensembl chr17:7,884,796...7,912,760 		JBrowse link
G CHD4 chromodomain helicase DNA binding protein 4 IAGP HPO PMID:27616479 MIM:617159 NCBI chr12:6,570,082...6,607,379
Ensembl chr12:6,570,081...6,614,982 		JBrowse link
G CHD8 chromodomain helicase DNA binding protein 8 IAGP HPO PMID:31001818 PMID:31980904 PMID:34415117 PMID:38441608 MIM:615032 NCBI chr14:21,385,199...21,456,123
Ensembl chr14:21,385,194...21,456,126 		JBrowse link
G CHST14 carbohydrate sulfotransferase 14 IAGP HPO MIM:601776 ORPHA:2953 NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO PMID:18834968 MIM:612394 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G CILK1 ciliogenesis associated kinase 1 IAGP HPO PMID:19185282 MIM:612651 NCBI chr 6:53,001,303...53,061,824
Ensembl chr 6:53,001,279...53,061,824 		JBrowse link
G CIT citron rho-interacting serine/threonine kinase IAGP HPO MIM:617090 ORPHA:2512 NCBI chr12:119,685,791...119,877,320
Ensembl chr12:119,685,791...119,877,332 		JBrowse link
G CLCN4 chloride voltage-gated channel 4 IAGP HPO ORPHA:485350 NCBI chr  X:10,156,975...10,237,660
Ensembl chr  X:10,156,943...10,237,660 		JBrowse link
G CLP1 cleavage factor polyribonucleotide kinase subunit 1 IAGP HPO PMID:29307788 MIM:615803 NCBI chr11:57,657,762...57,661,865
Ensembl chr11:57,648,188...57,661,865 		JBrowse link
G COG4 component of oligomeric golgi complex 4 IAGP HPO PMID:30290151 MIM:618150 NCBI chr16:70,480,567...70,523,554
Ensembl chr16:70,480,568...70,523,560 		JBrowse link
G COG6 component of oligomeric golgi complex 6 IAGP HPO PMID:26260076 MIM:614576 NCBI chr13:39,655,627...39,791,666
Ensembl chr13:39,655,627...39,791,666 		JBrowse link
G COG8 component of oligomeric golgi complex 8 IAGP HPO PMID:17331980 PMID:28619360 MIM:611182 ORPHA:95428 NCBI chr16:69,326,428...69,339,564
Ensembl chr16:69,320,140...69,339,583 		JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain IAGP HPO PMID:20799329 MIM:267750 NCBI chr21:45,405,165...45,513,720
Ensembl chr21:45,405,123...45,513,721 		JBrowse link
G COL1A1 collagen type I alpha 1 chain IAGP HPO PMID:18834968 MIM:612394 NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,634 		JBrowse link
G COL1A2 collagen type I alpha 2 chain IAGP HPO PMID:18834968 MIM:612394 NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,820...94,431,227 		JBrowse link
G COL3A1 collagen type III alpha 1 chain IAGP HPO PMID:19455184 MIM:618343 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,371...189,012,746 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP HPO ORPHA:899 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202 		JBrowse link
G COL4A2 collagen type IV alpha 2 chain IAGP HPO PMID:22209246 MIM:614483 NCBI chr13:110,307,284...110,513,209
Ensembl chr13:110,305,812...110,513,209 		JBrowse link
G COPB2 COPI coat complex subunit beta 2 IAGP HPO PMID:18834968 PMID:29036432 MIM:612394 MIM:617800 ORPHA:2512 NCBI chr 3:139,357,406...139,389,680
Ensembl chr 3:139,353,942...139,389,736 		JBrowse link
G COX16 cytochrome c oxidase assembly factor COX16 IAGP HPO PMID:33169484 MIM:619355 NCBI chr14:70,325,081...70,359,683
Ensembl chr14:70,325,081...70,416,984 		JBrowse link
G COX6B1 cytochrome c oxidase subunit 6B1 IAGP HPO PMID:24781756 MIM:619051 NCBI chr19:35,648,323...35,658,782
Ensembl chr19:35,648,230...35,658,795 		JBrowse link
G COX8A cytochrome c oxidase subunit 8A IAGP HPO PMID:26685157 MIM:619059 NCBI chr11:63,974,620...63,976,543
Ensembl chr11:63,974,620...63,976,543 		JBrowse link
G CPAP centrosome assembly and centriole elongation protein IAGP HPO ORPHA:2512 NCBI chr13:24,882,279...24,934,000
Ensembl chr13:24,882,276...24,922,889 		JBrowse link
G CPLX1 complexin 1 IAGP HPO MIM:194190 NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...827,043 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP HPO PMID:11477613 MIM:608836 ORPHA:228308 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197 		JBrowse link
G CRB2 crumbs cell polarity complex component 2 IAGP HPO PMID:25557780 MIM:219730 NCBI chr 9:123,354,065...123,380,326
Ensembl chr 9:123,356,170...123,380,324 		JBrowse link
G CREB3L1 cAMP responsive element binding protein 3 like 1 IAGP HPO PMID:18834968 MIM:612394 NCBI chr11:46,277,662...46,321,409
Ensembl chr11:46,277,637...46,321,422 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP HPO MIM:614643 ORPHA:370980 ORPHA:899 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504 		JBrowse link
G CRTAP cartilage associated protein IAGP HPO PMID:18834968 MIM:612394 NCBI chr 3:33,114,014...33,147,773
Ensembl chr 3:33,113,956...33,147,773 		JBrowse link
G CSF1R colony stimulating factor 1 receptor IAGP HPO PMID:30982609 MIM:618476 NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372 		JBrowse link
G CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 IAGP HPO PMID:31705726 MIM:618870 NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,156...19,758,029 		JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO ORPHA:397715 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,381...67,196,778 		JBrowse link
G CTBP1 C-terminal binding protein 1 IAGP HPO MIM:194190 NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,434...1,250,333 		JBrowse link
G CTCF CCCTC-binding factor IAGP HPO PMID:23746550 PMID:31239556 MIM:615502 ORPHA:363611 NCBI chr16:67,562,526...67,639,177
Ensembl chr16:67,561,831...67,639,189 		JBrowse link
G CTDP1 CTD phosphatase subunit 1 IAGP HPO ORPHA:48431 NCBI chr18:79,676,768...79,756,625
Ensembl chr18:79,679,803...79,754,503 		JBrowse link
G CTNNB1 catenin beta 1 IAGP HPO ORPHA:404473 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G CTSF cathepsin F IAGP HPO PMID:23297359 MIM:615362 NCBI chr11:66,563,464...66,568,606
Ensembl chr11:66,563,463...66,568,879 		JBrowse link
G CUL4B cullin 4B IAGP HPO MIM:300354 NCBI chr  X:120,523,858...120,575,532
Ensembl chr  X:120,505,920...120,604,074 		JBrowse link
G CYFIP2 cytoplasmic FMR1 interacting protein 2 IAGP HPO PMID:29534297 MIM:618008 NCBI chr 5:157,266,123...157,395,594
Ensembl chr 5:157,266,079...157,395,595 		JBrowse link
G DAG1 dystroglycan 1 IAGP HPO PMID:24052401 MIM:616538 ORPHA:370997 ORPHA:899 NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,649...49,535,619 		JBrowse link
G DCHS1 dachsous cadherin-related 1 IAGP HPO ORPHA:314679 NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809 		JBrowse link
G DDX3X DEAD-box helicase 3 X-linked IAGP HPO PMID:26235985 MIM:300958 ORPHA:3338 ORPHA:457260 NCBI chr  X:41,333,308...41,364,472
Ensembl chr  X:41,333,348...41,364,472 		JBrowse link
G DEAF1 DEAF1 transcription factor IAGP HPO ORPHA:819 NCBI chr11:644,233...707,083
Ensembl chr11:644,224...707,118 		JBrowse link
G DENND5A DENN domain containing 5A IAGP HPO PMID:27866705 MIM:617281 NCBI chr11:9,138,825...9,265,350
Ensembl chr11:9,138,825...9,265,959 		JBrowse link
G DHCR24 24-dehydrocholesterol reductase IAGP HPO PMID:29175559 MIM:602398 ORPHA:35107 NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,207 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP HPO ORPHA:818 NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868 		JBrowse link
G DHX30 DExH-box helicase 30 IAGP HPO PMID:29100085 MIM:617804 NCBI chr 3:47,803,138...47,850,193
Ensembl chr 3:47,802,641...47,851,617 		JBrowse link
G DHX9 DExH-box helicase 9 IAGP HPO PMID:37467750 MIM:620988 NCBI chr 1:182,839,347...182,887,982
Ensembl chr 1:182,839,302...182,887,982 		JBrowse link
G DIAPH1 diaphanous related formin 1 IAGP HPO ORPHA:2573 NCBI chr 5:141,515,021...141,619,000
Ensembl chr 5:141,515,016...141,619,055 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP HPO ORPHA:3322 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,697 		JBrowse link
G DLL1 delta like canonical Notch ligand 1 IAGP HPO PMID:31353024 MIM:618709 NCBI chr 6:170,282,206...170,291,078
Ensembl chr 6:170,282,202...170,306,565 		JBrowse link
G DMPK DM1 protein kinase IAGP HPO ORPHA:589821 NCBI chr19:45,769,717...45,782,490
Ensembl chr19:45,769,709...45,782,552 		JBrowse link
G DNA2 DNA replication helicase/nuclease 2 IAGP HPO PMID:37055165 MIM:620819 NCBI chr10:68,414,064...68,472,521
Ensembl chr10:68,414,061...68,472,121 		JBrowse link
G DNAAF1 dynein axonemal assembly factor 1 IAGP HPO ORPHA:244 NCBI chr16:84,145,308...84,177,920
Ensembl chr16:84,145,261...84,178,769 		JBrowse link
G DNAAF11 dynein axonemal assembly factor 11 IAGP HPO ORPHA:244 NCBI chr 8:132,570,416...132,702,913
Ensembl chr 8:132,570,416...132,675,617 		JBrowse link
G DNAAF19 dynein axonemal assembly factor 19 IAGP HPO ORPHA:244 NCBI chr17:44,899,729...44,905,390
Ensembl chr17:44,899,142...44,905,390 		JBrowse link
G DNAAF2 dynein axonemal assembly factor 2 IAGP HPO ORPHA:244 NCBI chr14:49,625,174...49,635,244
Ensembl chr14:49,625,174...49,635,244 		JBrowse link
G DNAAF3 dynein axonemal assembly factor 3 IAGP HPO ORPHA:244 NCBI chr19:55,158,661...55,166,722
Ensembl chr19:55,158,661...55,166,722 		JBrowse link
G DNAAF4 dynein axonemal assembly factor 4 IAGP HPO ORPHA:244 NCBI chr15:55,417,755...55,508,234
Ensembl chr15:55,410,525...55,508,234 		JBrowse link
G DNAAF5 dynein axonemal assembly factor 5 IAGP HPO ORPHA:244 NCBI chr 7:726,699...786,475
Ensembl chr 7:726,690...786,475 		JBrowse link
G DNAAF6 dynein axonemal assembly factor 6 IAGP HPO ORPHA:244 NCBI chr  X:107,206,611...107,244,247
Ensembl chr  X:107,206,611...107,244,247 		JBrowse link
G DNAH1 dynein axonemal heavy chain 1 IAGP HPO ORPHA:244 NCBI chr 3:52,310,920...52,400,492
Ensembl chr 3:52,316,319...52,400,492 		JBrowse link
G DNAH11 dynein axonemal heavy chain 11 IAGP HPO ORPHA:244 NCBI chr 7:21,543,039...21,901,839
Ensembl chr 7:21,543,039...21,901,839 		JBrowse link
G DNAH5 dynein axonemal heavy chain 5 IAGP HPO ORPHA:244 NCBI chr 5:13,690,328...14,011,818
Ensembl chr 5:13,690,328...14,011,818 		JBrowse link
G DNAH9 dynein axonemal heavy chain 9 IAGP HPO ORPHA:244 NCBI chr17:11,598,470...11,969,748
Ensembl chr17:11,598,470...11,969,748 		JBrowse link
G DNAI1 dynein axonemal intermediate chain 1 IAGP HPO ORPHA:244 NCBI chr 9:34,458,805...34,520,984
Ensembl chr 9:34,457,414...34,520,988 		JBrowse link
G DNAI2 dynein axonemal intermediate chain 2 IAGP HPO ORPHA:244 NCBI chr17:74,274,234...74,314,884
Ensembl chr17:74,274,234...74,314,886 		JBrowse link
G DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 IAGP HPO ORPHA:244 NCBI chr11:73,951,026...73,970,281
Ensembl chr11:73,951,014...73,970,366 		JBrowse link
G DNAL1 dynein axonemal light chain 1 IAGP HPO ORPHA:244 NCBI chr14:73,644,986...73,703,732
Ensembl chr14:73,644,875...73,703,732 		JBrowse link
G DNM1 dynamin 1 IAGP HPO PMID:34172529 MIM:620352 NCBI chr 9:128,203,379...128,255,244
Ensembl chr 9:128,191,655...128,255,248 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP HPO PMID:24614070 MIM:615879 ORPHA:404443 NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590 		JBrowse link
G DOHH deoxyhypusine hydroxylase IAGP HPO PMID:35858628 MIM:620066 NCBI chr19:3,490,824...3,500,674
Ensembl chr19:3,490,821...3,500,936 		JBrowse link
G DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic IAGP HPO ORPHA:79322 NCBI chr20:50,934,855...50,958,564
Ensembl chr20:50,934,852...50,959,140 		JBrowse link
G DPYSL5 dihydropyrimidinase like 5 IAGP HPO ORPHA:7 NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351 		JBrowse link
G DRC1 dynein regulatory complex subunit 1 IAGP HPO ORPHA:244 NCBI chr 2:26,401,920...26,456,711
Ensembl chr 2:26,401,920...26,456,717 		JBrowse link
G DSE dermatan sulfate epimerase IAGP HPO ORPHA:2953 NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,253,604...116,444,861 		JBrowse link
G DSPP dentin sialophosphoprotein IAGP HPO PMID:18834968 MIM:612394 NCBI chr 4:87,608,529...87,616,873
Ensembl chr 4:87,608,529...87,616,873 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP HPO ORPHA:93271 NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863 		JBrowse link
G DYNC2I1 dynein 2 intermediate chain 1 IAGP HPO ORPHA:93271 NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747 		JBrowse link
G DYNC2I2 dynein 2 intermediate chain 2 IAGP HPO ORPHA:93271 NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,646...128,656,847 		JBrowse link
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A IAGP HPO PMID:26922654 MIM:614104 ORPHA:268261 ORPHA:464311 NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358 		JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP HPO PMID:10391218 MIM:302960 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,089...48,528,716 		JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 IAGP HPO ORPHA:261652 ORPHA:96147 NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,977...137,870,016 		JBrowse link
G EIF2B4 eukaryotic translation initiation factor 2B subunit delta IAGP HPO PMID:12707859 MIM:620314 NCBI chr 2:27,364,352...27,370,338
Ensembl chr 2:27,363,420...27,370,400 		JBrowse link
G EIF2S3 eukaryotic translation initiation factor 2 subunit gamma IAGP HPO MIM:300148 NCBI chr  X:24,054,956...24,078,810
Ensembl chr  X:24,054,911...24,078,810 		JBrowse link
G EIF4A2 eukaryotic translation initiation factor 4A2 IAGP HPO PMID:36528028 MIM:620455 NCBI chr 3:186,783,577...186,789,897
Ensembl chr 3:186,783,205...186,789,901 		JBrowse link
G EMG1 EMG1 N1-specific pseudouridine methyltransferase IAGP HPO ORPHA:1270 NCBI chr12:6,970,913...6,997,428
Ensembl chr12:6,970,805...6,979,936 		JBrowse link
G EMILIN1 elastin microfibril interfacer 1 IAGP HPO PMID:18834968 MIM:612394 NCBI chr 2:27,078,615...27,086,403
Ensembl chr 2:27,078,044...27,086,408 		JBrowse link
G EML1 EMAP like 1 IAGP HPO PMID:24859200 MIM:600348 NCBI chr14:99,737,722...99,942,060
Ensembl chr14:99,737,693...99,942,060 		JBrowse link
G EOMES eomesodermin IAGP HPO ORPHA:171703 NCBI chr 3:27,715,953...27,722,713
Ensembl chr 3:27,715,949...27,722,711 		JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP HPO ORPHA:33364 NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,773...45,370,918 		JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit IAGP HPO MIM:610651 ORPHA:33364 NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,285...127,294,188 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO PMID:29105242 MIM:610965 ORPHA:84 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease IAGP HPO PMID:24700531 MIM:616570 NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO PMID:1372469 PMID:10739753 MIM:214150 MIM:278800 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP HPO PMID:16865293 PMID:32160415 MIM:216400 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073 		JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP HPO ORPHA:502 NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826 		JBrowse link
G EXTL3 exostosin like glycosyltransferase 3 IAGP HPO ORPHA:508533 NCBI chr 8:28,607,736...28,756,562
Ensembl chr 8:28,600,469...28,756,561 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IAGP HPO PMID:22177091 MIM:277590 NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,330 		JBrowse link
G FANCA FA complementation group A IAGP HPO ORPHA:84 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977 		JBrowse link
G FANCB FA complementation group B IAGP HPO PMID:21910217 MIM:300514 ORPHA:84 NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255 		JBrowse link
G FANCC FA complementation group C IAGP HPO ORPHA:84 NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796 		JBrowse link
G FANCD2 FA complementation group D2 IAGP HPO ORPHA:84 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,937 		JBrowse link
G FANCE FA complementation group E IAGP HPO ORPHA:84 NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,318...35,467,106 		JBrowse link
G FANCF FA complementation group F IAGP HPO ORPHA:84 NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823 		JBrowse link
G FANCG FA complementation group G IAGP HPO ORPHA:84 NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,820...35,082,444 		JBrowse link
G FANCI FA complementation group I IAGP HPO ORPHA:84 NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,854...89,318,091 		JBrowse link
G FANCL FA complementation group L IAGP HPO ORPHA:84 NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410 		JBrowse link
G FANCM FA complementation group M IAGP HPO ORPHA:84 NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,909...45,200,890 		JBrowse link
G FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial IAGP HPO MIM:614946 NCBI chr 6:5,249,934...5,771,583
Ensembl chr 6:5,261,044...5,829,192 		JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP HPO ORPHA:314679 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		JBrowse link
G FBN1 fibrillin 1 IAGP HPO ORPHA:2462 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FBP1 fructose-bisphosphatase 1 IAGP HPO ORPHA:348 NCBI chr 9:94,603,133...94,640,263
Ensembl chr 9:94,603,133...94,640,323 		JBrowse link
G FBXL4 F-box and leucine rich repeat protein 4 IAGP HPO PMID:23993193 PMID:23993194 PMID:25868664 PMID:27099744 PMID:27182039 More... MIM:615471 NCBI chr 6:98,868,535...98,947,946
Ensembl chr 6:98,868,535...98,948,006 		JBrowse link
G FBXO28 F-box protein 28 IAGP HPO PMID:30160831 MIM:619777 NCBI chr 1:224,114,111...224,162,047
Ensembl chr 1:224,114,111...224,162,047 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:2396 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO PMID:18247426 MIM:101200 MIM:123790 ORPHA:168624 ORPHA:87 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO PMID:28249712 MIM:187601 ORPHA:1860 ORPHA:93274 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,286...1,808,873 		JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 IAGP HPO MIM:194190 NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,008,649...1,026,901 		JBrowse link
G FH fumarate hydratase IAGP HPO PMID:22069215 MIM:606812 ORPHA:24 NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799 		JBrowse link
G FIG4 FIG4 phosphoinositide 5-phosphatase IAGP HPO PMID:24598713 MIM:612691 NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G FKBP10 FKBP prolyl isomerase 10 IAGP HPO PMID:18834968 MIM:612394 NCBI chr17:41,813,004...41,823,213
Ensembl chr17:41,812,680...41,823,221 		JBrowse link
G FKRP fukutin related protein IAGP HPO PMID:15121789 MIM:236670 MIM:606612 MIM:613153 ORPHA:370959 ORPHA:370968 ORPHA:370980 ORPHA:899 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FKTN fukutin IAGP HPO MIM:236670 ORPHA:272 ORPHA:370980 ORPHA:899 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G FLI1 Fli-1 proto-oncogene, ETS transcription factor IAGP HPO ORPHA:2308 NCBI chr11:128,685,132...128,813,267
Ensembl chr11:128,686,535...128,813,267 		JBrowse link
G FLII FLII actin remodeling protein IAGP HPO ORPHA:819 NCBI chr17:18,244,815...18,259,022
Ensembl chr17:18,244,782...18,258,772 		JBrowse link
G FLVCR2 FLVCR choline and putative heme transporter 2 IAGP HPO PMID:20206334 MIM:225790 NCBI chr14:75,578,620...75,648,167
Ensembl chr14:75,578,594...75,663,214 		JBrowse link
G FOXF1 forkhead box F1 IAGP HPO PMID:19500772 MIM:265380 NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422 		JBrowse link
G FOXJ1 forkhead box J1 IAGP HPO ORPHA:244 NCBI chr17:76,136,333...76,141,245
Ensembl chr17:76,136,333...76,141,245 		JBrowse link
G FOXP3 forkhead box P3 IAGP HPO PMID:30443250 MIM:304790 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,436...49,264,800 		JBrowse link
G FOXRED1 FAD dependent oxidoreductase domain containing 1 IAGP HPO MIM:618241 NCBI chr11:126,269,154...126,278,126
Ensembl chr11:126,269,024...126,278,132 		JBrowse link
G GABBR2 gamma-aminobutyric acid type B receptor subunit 2 IAGP HPO MIM:617903 MIM:617904 NCBI chr 9:98,288,109...98,708,935
Ensembl chr 9:98,288,096...98,709,739 		JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta IAGP HPO ORPHA:1606 NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758 		JBrowse link
G GAS2L2 growth arrest specific 2 like 2 IAGP HPO ORPHA:244 NCBI chr17:35,744,511...35,753,239
Ensembl chr17:35,744,511...35,753,260 		JBrowse link
G GAS8 growth arrest specific 8 IAGP HPO ORPHA:244 NCBI chr16:90,019,633...90,044,960
Ensembl chr16:90,019,629...90,044,975 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO MIM:608013 ORPHA:2072 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,447...155,245,178 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase IAGP HPO ORPHA:25 NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,128...12,915,126 		JBrowse link
G GET4 guided entry of tail-anchored proteins factor 4 IAGP HPO PMID:32395830 MIM:620200 NCBI chr 7:876,554...896,436
Ensembl chr 7:876,486...896,436 		JBrowse link
G GFM2 GTP dependent ribosome recycling factor mitochondrial 2 IAGP HPO MIM:618397 NCBI chr 5:74,721,206...74,767,117
Ensembl chr 5:74,721,206...74,767,147 		JBrowse link
G GLB1 galactosidase beta 1 IAGP HPO PMID:8198123 MIM:230600 MIM:230650 NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO PMID:24736735 MIM:175700 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,265 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP HPO ORPHA:370959 ORPHA:370968 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,985 		JBrowse link
G GNAO1 G protein subunit alpha o1 IAGP HPO MIM:617493 NCBI chr16:56,191,489...56,357,444
Ensembl chr16:56,189,660...56,357,444 		JBrowse link
G GNB2 G protein subunit beta 2 IAGP HPO PMID:34183358 MIM:619503 NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174 		JBrowse link
G GON7 GON7 subunit of KEOPS complex IAGP HPO PMID:31481669 MIM:619603 NCBI chr14:93,202,894...93,207,065
Ensembl chr14:93,202,890...93,207,068 		JBrowse link
G GORAB golgin, RAB6 interacting IAGP HPO PMID:18834968 MIM:612394 NCBI chr 1:170,532,166...170,553,834
Ensembl chr 1:170,531,819...170,553,834 		JBrowse link
G GOSR2 golgi SNAP receptor complex member 2 IAGP HPO PMID:29855340 MIM:620166 NCBI chr17:46,923,160...46,975,890
Ensembl chr17:46,923,075...46,975,524 		JBrowse link
G GPSM2 G protein signaling modulator 2 IAGP DNA:deletion, transversion mutations:cds,splice junction:c.1471delG,c.741delC,c.1661C>A,c.1062+1G>T (human); HPO
RGD		 PMID:22578326 PMID:22578326 MIM:604213, RGD:11062393 NCBI chr 1:108,876,985...108,934,545
Ensembl chr 1:108,875,350...108,934,545 		JBrowse link
G GRIA3 glutamate ionotropic receptor AMPA type subunit 3 IAGP HPO PMID:35031858 MIM:300699 NCBI chr  X:123,184,278...123,490,915
Ensembl chr  X:123,184,023...123,490,915 		JBrowse link
G GRIK2 glutamate ionotropic receptor kainate type subunit 2 IAGP HPO PMID:34375587 MIM:619580 NCBI chr 6:101,393,708...102,070,083
Ensembl chr 6:100,962,701...102,081,622 		JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 IAGP HPO PMID:25864721 MIM:614254 NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756 		JBrowse link
G GTF2E2 general transcription factor IIE subunit 2 IAGP HPO ORPHA:33364 NCBI chr 8:30,578,318...30,658,236
Ensembl chr 8:30,578,318...30,660,846 		JBrowse link
G GTF2H5 general transcription factor IIH subunit 5 IAGP HPO ORPHA:33364 NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,338...158,199,344 		JBrowse link
G H1-4 H1.4 linker histone, cluster member IAGP HPO PMID:28475857 MIM:617537 NCBI chr 6:26,156,329...26,157,115
Ensembl chr 6:26,156,329...26,157,115 		JBrowse link
G H3-3A H3.3 histone A IAGP HPO PMID:33268356 MIM:619720 NCBI chr 1:226,061,831...226,072,019
Ensembl chr 1:226,061,571...226,073,206 		JBrowse link
G HDAC4 histone deacetylase 4 IAGP HPO PMID:33537682 MIM:619797 NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,661 		JBrowse link
G HDAC8 histone deacetylase 8 IAGP HPO PMID:22885700 MIM:300882 ORPHA:199 NCBI chr  X:72,329,516...72,572,843
Ensembl chr  X:72,329,516...72,573,101 		JBrowse link
G HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 IAGP HPO PMID:27334371 MIM:617268 NCBI chr 2:196,194,072...196,593,554
Ensembl chr 2:196,189,099...196,593,684 		JBrowse link
G HEPACAM hepatic and glial cell adhesion molecule IAGP HPO MIM:613925 NCBI chr11:124,919,205...124,936,047
Ensembl chr11:124,919,205...124,936,431 		JBrowse link
G HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 IAGP HPO PMID:26138117 MIM:617011 ORPHA:457359 NCBI chr15:63,608,618...63,833,948
Ensembl chr15:63,608,618...63,833,948 		JBrowse link
G HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 IAGP HPO PMID:20301505 MIM:176270 NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179 		JBrowse link
G HIBCH 3-hydroxyisobutyryl-CoA hydrolase IAGP HPO ORPHA:88639 NCBI chr 2:190,189,735...190,319,826
Ensembl chr 2:190,189,735...190,344,193 		JBrowse link
G HK1 hexokinase 1 IAGP HPO PMID:30778173 MIM:618547 NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,403,496 		JBrowse link
G HNRNPK heterogeneous nuclear ribonucleoprotein K IAGP HPO PMID:26173930 MIM:616580 NCBI chr 9:83,968,083...83,980,615
Ensembl chr 9:83,966,766...83,981,586 		JBrowse link
G HNRNPU heterogeneous nuclear ribonucleoprotein U IAGP HPO MIM:617391 ORPHA:238769 NCBI chr 1:244,850,297...244,864,543
Ensembl chr 1:244,840,638...244,864,560 		JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP HPO MIM:218040 ORPHA:2612 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,343 		JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 IAGP HPO PMID:16278854 MIM:261515 NCBI chr 5:119,452,497...119,542,332
Ensembl chr 5:119,452,465...119,637,199 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO ORPHA:1606 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G HTRA2 HtrA serine peptidase 2 IAGP HPO MIM:617248 NCBI chr 2:74,529,405...74,533,556
Ensembl chr 2:74,529,596...74,533,350 		JBrowse link
G HTT huntingtin IAGP HPO ORPHA:248111 NCBI chr 4:3,074,681...3,243,960
Ensembl chr 4:3,041,363...3,243,957 		JBrowse link
G HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 IAGP HPO PMID:29180823 MIM:309590 NCBI chr  X:53,532,096...53,686,719
Ensembl chr  X:53,532,096...53,686,752 		JBrowse link
G HYDIN HYDIN axonemal central pair apparatus protein IAGP HPO ORPHA:244 NCBI chr16:70,802,084...71,230,722
Ensembl chr16:70,802,084...71,230,722 		JBrowse link
G IBA57 iron-sulfur cluster assembly factor IBA57 IAGP HPO PMID:23462291 MIM:615330 NCBI chr 1:228,165,804...228,182,257
Ensembl chr 1:228,165,777...228,182,257 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP HPO ORPHA:99646 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,224...208,266,095 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 IAGP HPO ORPHA:51 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G IFITM5 interferon induced transmembrane protein 5 IAGP HPO PMID:18834968 MIM:612394 NCBI chr11:298,200...299,526
Ensembl chr11:298,200...299,526 		JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO PMID:27874174 MIM:266920 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,075 		JBrowse link
G IFT172 intraflagellar transport 172 IAGP HPO MIM:615630 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,836 		JBrowse link
G IFT43 intraflagellar transport 43 IAGP HPO PMID:28400947 MIM:617866 NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585 		JBrowse link
G IFT80 intraflagellar transport 80 IAGP HPO ORPHA:93271 NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,400,357 		JBrowse link
G INTS11 integrator complex subunit 11 IAGP HPO PMID:37054711 MIM:620428 NCBI chr 1:1,311,600...1,324,660
Ensembl chr 1:1,311,585...1,324,687 		JBrowse link
G INTU inturned planar cell polarity protein IAGP HPO PMID:27158779 MIM:617926 NCBI chr 4:127,632,957...127,726,737
Ensembl chr 4:127,623,271...127,726,737 		JBrowse link
G IPW imprinted in Prader-Willi syndrome IAGP HPO PMID:20301505 MIM:176270 NCBI chr15:25,116,545...25,122,476 JBrowse link
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 IAGP HPO ORPHA:819 NCBI chr  X:53,225,813...53,321,350
Ensembl chr  X:53,225,828...53,321,350 		JBrowse link
G ISCA1 iron-sulfur cluster assembly 1 IAGP HPO PMID:28356563 MIM:617613 NCBI chr 9:86,264,546...86,282,538
Ensembl chr 9:86,264,546...86,283,102 		JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 IAGP HPO PMID:27108797 MIM:206700 NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506 		JBrowse link
G JAM3 junctional adhesion molecule 3 IAGP HPO PMID:21109224 MIM:613730 NCBI chr11:134,069,072...134,152,001
Ensembl chr11:134,068,998...134,152,001 		JBrowse link
G KANK1 KN motif and ankyrin repeat domains 1 IAGP HPO PMID:16301218 MIM:612900 NCBI chr 9:470,295...746,103
Ensembl chr 9:470,291...746,105 		JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 IAGP HPO PMID:18628315 MIM:610443 ORPHA:363958 ORPHA:363965 NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389 		JBrowse link
G KAT8 lysine acetyltransferase 8 IAGP HPO PMID:31794431 MIM:618974 NCBI chr16:31,117,664...31,131,393
Ensembl chr16:31,114,489...31,131,393 		JBrowse link
G KATNB1 katanin regulatory subunit B1 IAGP HPO PMID:25521379 MIM:616212 NCBI chr16:57,735,770...57,757,244
Ensembl chr16:57,735,669...57,758,271 		JBrowse link
G KCNAB2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 IAGP HPO ORPHA:1606 NCBI chr 1:5,992,676...6,101,180
Ensembl chr 1:5,990,927...6,101,193 		JBrowse link
G KCNK4 potassium two pore domain channel subfamily K member 4 IAGP HPO PMID:30290154 MIM:618381 NCBI chr11:64,291,302...64,300,031
Ensembl chr11:64,291,302...64,300,031 		JBrowse link
G KDELR2 KDEL endoplasmic reticulum protein retention receptor 2 IAGP HPO PMID:18834968 MIM:612394 NCBI chr 7:6,461,089...6,484,152
Ensembl chr 7:6,445,953...6,484,193 		JBrowse link
G KDM6A lysine demethylase 6A IAGP HPO ORPHA:2322 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,130...45,112,779 		JBrowse link
G KIAA0586 KIAA0586 IAGP HPO PMID:26166481 MIM:616546 ORPHA:397715 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G KIAA0753 KIAA0753 IAGP HPO PMID:26643951 PMID:29138412 MIM:617127 MIM:619479 NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711 		JBrowse link
G KIDINS220 kinase D interacting substrate 220 IAGP HPO PMID:28934391 MIM:619501 ORPHA:521390 NCBI chr 2:8,721,081...8,837,613
Ensembl chr 2:8,721,081...8,837,630 		JBrowse link
G KIF14 kinesin family member 14 IAGP HPO ORPHA:2512 NCBI chr 1:200,551,497...200,620,751
Ensembl chr 1:200,551,497...200,620,771 		JBrowse link
G KIF26A kinesin family member 26A IAGP HPO PMID:36228617 MIM:620156 NCBI chr14:104,138,587...104,180,894
Ensembl chr14:104,136,454...104,180,894 		JBrowse link
G KIF5B kinesin family member 5B IAGP HPO PMID:18834968 MIM:612394 NCBI chr10:32,009,015...32,056,425
Ensembl chr10:32,009,014...32,056,454 		JBrowse link
G KIF7 kinesin family member 7 IAGP ClinVar Annotator: match by term: Ventriculomegaly ClinVar
HPO		 PMID:21552264 PMID:25741868 PMID:28492532 PMID:29286531 MIM:614120 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,098 		JBrowse link
G KIFBP kinesin family binding protein IAGP HPO ORPHA:66629 NCBI chr10:68,988,803...69,016,982
Ensembl chr10:68,988,803...69,043,544 		JBrowse link
G KMT2C lysine methyltransferase 2C IAGP HPO ORPHA:261652 NCBI chr 7:152,134,925...152,436,003
Ensembl chr 7:152,134,922...152,436,644 		JBrowse link
G KMT2D lysine methyltransferase 2D IAGP HPO ORPHA:2322 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G KMT5B lysine methyltransferase 5B IAGP HPO PMID:28191889 MIM:617788 NCBI chr11:68,154,863...68,213,648
Ensembl chr11:68,154,863...68,213,852 		JBrowse link
G KNL1 kinetochore scaffold 1 IAGP HPO ORPHA:2512 NCBI chr15:40,594,249...40,664,342
Ensembl chr15:40,594,020...40,664,342 		JBrowse link
G KNSTRN kinetochore localized astrin (SPAG5) binding protein IAGP HPO MIM:613328 ORPHA:221139 NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,288 		JBrowse link
G KPNA3 karyopherin subunit alpha 3 IAGP HPO PMID:34825409 MIM:620106 NCBI chr13:49,699,320...49,792,682
Ensembl chr13:49,697,744...49,793,068 		JBrowse link
G KPTN kaptin, actin binding protein IAGP HPO PMID:24239382 MIM:615637 NCBI chr19:47,475,150...47,485,839
Ensembl chr19:47,475,141...47,484,265 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:2396 ORPHA:2612 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G KRT14 keratin 14 IAGP HPO ORPHA:79396 NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895 		JBrowse link
G KRT5 keratin 5 IAGP HPO ORPHA:79396 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530 		JBrowse link
G L1CAM L1 cell adhesion molecule IAGP DNA:snps:cds:multiple HPO
RGD		 PMID:16650080 PMID:7920659 MIM:303350 MIM:304100 ORPHA:2466, RGD:6483012 NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,511...153,886,204 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO MIM:236670 MIM:613154 ORPHA:370968 ORPHA:899 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,885 		JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP HPO MIM:194190 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,232 		JBrowse link
G LIFR LIF receptor subunit alpha IAGP HPO PMID:18834968 MIM:612394 NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354 		JBrowse link
G LIPT1 lipoyltransferase 1 IAGP HPO PMID:24341803 MIM:616299 NCBI chr 2:99,154,967...99,163,137
Ensembl chr 2:99,154,955...99,163,179 		JBrowse link
G LIPT2 lipoyl(octanoyl) transferase 2 IAGP HPO PMID:28757203 MIM:617668 NCBI chr11:74,490,519...74,493,724
Ensembl chr11:74,490,519...74,493,724 		JBrowse link
G LMNB1 lamin B1 IAGP HPO PMID:33033404 MIM:619179 NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,232 		JBrowse link
G LMNB2 lamin B2 IAGP HPO PMID:25954030 PMID:33033404 MIM:616540 MIM:619180 NCBI chr19:2,428,166...2,456,959
Ensembl chr19:2,427,638...2,456,992 		JBrowse link
G LONP1 lon peptidase 1, mitochondrial IAGP HPO MIM:600373 ORPHA:79243 NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572 		JBrowse link
G LRP5 LDL receptor related protein 5 IAGP HPO PMID:18834968 MIM:612394 NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,447...68,449,275 		JBrowse link
G LRRC32 leucine rich repeat containing 32 IAGP HPO PMID:30976112 MIM:619074 NCBI chr11:76,657,524...76,670,747
Ensembl chr11:76,657,524...76,670,868 		JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP HPO ORPHA:244 NCBI chr11:506,462...554,912
Ensembl chr11:536,841...554,925 		JBrowse link
G LSM11 LSM11, U7 small nuclear RNA associated IAGP HPO ORPHA:51 NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709 		JBrowse link
G LUZP1 leucine zipper protein 1 IAGP HPO ORPHA:1606 NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,178,152 		JBrowse link
G MAD2L2 mitotic arrest deficient 2 like 2 IAGP HPO ORPHA:84 NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,657,230...11,692,605 		JBrowse link
G MAF MAF bZIP transcription factor IAGP HPO ORPHA:1272 NCBI chr16:79,202,622...79,600,737
Ensembl chr16:79,585,843...79,600,737 		JBrowse link
G MAG myelin associated glycoprotein IAGP HPO MIM:616680 NCBI chr19:35,292,161...35,313,807
Ensembl chr19:35,291,647...35,316,351 		JBrowse link
G MAGEL2 MAGE family member L2 IAGP ClinVar Annotator: match by term: Ventriculomegaly ClinVar
HPO		 PMID:20301505 PMID:24076603 PMID:25741868 PMID:26365340 PMID:27195816 More... MIM:176270 ORPHA:177901 ORPHA:177904 ORPHA:398069 ORPHA:98754 NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867 		JBrowse link
G MAN2C1 mannosidase alpha class 2C member 1 IAGP HPO PMID:35045343 MIM:619775 NCBI chr15:75,355,792...75,368,607
Ensembl chr15:75,355,207...75,368,656 		JBrowse link
G MAPRE2 microtubule associated protein RP/EB family member 2 IAGP HPO PMID:26637975 MIM:616734 NCBI chr18:34,977,027...35,143,470
Ensembl chr18:34,976,928...35,143,470 		JBrowse link
G MARS2 methionyl-tRNA synthetase 2, mitochondrial IAGP HPO PMID:25754315 MIM:616430 NCBI chr 2:197,705,369...197,708,395
Ensembl chr 2:197,705,369...197,708,395 		JBrowse link
G MAST1 microtubule associated serine/threonine kinase 1 IAGP HPO PMID:30449657 MIM:618273 NCBI chr19:12,838,515...12,874,952
Ensembl chr19:12,833,951...12,874,952 		JBrowse link
G MAX MYC associated factor X IAGP HPO PMID:38141607 MIM:620712 NCBI chr14:65,006,101...65,102,695
Ensembl chr14:65,006,174...65,102,695 		JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO PMID:18834968 MIM:308205 MIM:612394 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,610...21,885,423 		JBrowse link
G MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein IAGP HPO ORPHA:244 NCBI chr 5:55,219,564...55,227,315
Ensembl chr 5:55,219,564...55,227,315 		JBrowse link
G MCM7 minichromosome maintenance complex component 7 IAGP HPO ORPHA:2512 NCBI chr 7:100,092,728...100,101,397
Ensembl chr 7:100,092,233...100,101,940 		JBrowse link
G MCPH1 microcephalin 1 IAGP HPO ORPHA:2512 NCBI chr 8:6,406,627...6,648,508
Ensembl chr 8:6,406,592...6,648,508 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO ORPHA:93932 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MED25 mediator complex subunit 25 IAGP HPO PMID:25792360 MIM:616449 NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,277...49,840,383 		JBrowse link
G MEF2C myocyte enhancer factor 2C IAGP HPO PMID:19592390 MIM:613443 ORPHA:228384 NCBI chr 5:88,717,117...88,904,105
Ensembl chr 5:88,717,117...88,904,257 		JBrowse link
G MESD mesoderm development LRP chaperone IAGP HPO PMID:18834968 MIM:612394 NCBI chr15:80,946,289...80,989,819
Ensembl chr15:80,946,289...80,989,834 		JBrowse link
G METTL5 methyltransferase 5, N6-adenosine IAGP HPO ORPHA:2512 NCBI chr 2:169,811,757...169,824,905
Ensembl chr 2:169,810,081...169,824,931 		JBrowse link
G MFSD2A MFSD2 lysolipid transporter A, lysophospholipid IAGP HPO PMID:26005868 MIM:616486 ORPHA:2512 NCBI chr 1:39,955,145...39,969,956
Ensembl chr 1:39,955,112...39,969,968 		JBrowse link
G MIA3 MIA SH3 domain ER export factor 3 IAGP HPO PMID:18834968 MIM:612394 NCBI chr 1:222,618,097...222,668,007
Ensembl chr 1:222,618,090...222,668,007 		JBrowse link
G MID1 midline 1 IAGP HPO ORPHA:2745 NCBI chr  X:10,445,310...10,833,683
Ensembl chr  X:10,445,310...10,833,654 		JBrowse link
G MINPP1 multiple inositol-polyphosphate phosphatase 1 IAGP HPO PMID:33257696 MIM:619527 NCBI chr10:87,504,893...87,553,461
Ensembl chr10:87,504,875...87,553,461 		JBrowse link
G MKRN3 makorin ring finger protein 3 IAGP HPO PMID:20301505 MIM:176270 NCBI chr15:23,565,674...23,568,044
Ensembl chr15:23,565,674...23,630,075 		JBrowse link
G MKRN3-AS1 MKRN3 antisense RNA 1 IAGP HPO PMID:20301505 MIM:176270
G MKS1 MKS transition zone complex subunit 1 IAGP HPO PMID:27377014 MIM:249000 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,350...58,219,605 		JBrowse link
G MMP23B matrix metallopeptidase 23B IAGP HPO ORPHA:1606 NCBI chr 1:1,632,173...1,634,654
Ensembl chr 1:1,631,665...1,635,263 		JBrowse link
G MOCS1 molybdenum cofactor synthesis 1 IAGP HPO MIM:252150 NCBI chr 6:39,904,170...39,934,462
Ensembl chr 6:39,899,578...39,934,551 		JBrowse link
G MOCS2 molybdenum cofactor synthesis 2 IAGP HPO MIM:252160 NCBI chr 5:53,095,679...53,109,757
Ensembl chr 5:53,095,679...53,113,016 		JBrowse link
G MPDU1 mannose-P-dolichol utilization defect 1 IAGP HPO PMID:11733564 MIM:609180 ORPHA:79323 NCBI chr17:7,583,647...7,588,212
Ensembl chr17:7,583,529...7,592,789 		JBrowse link
G MPDZ multiple PDZ domain crumbs cell polarity complex component IAGP HPO PMID:23240096 MIM:615219 NCBI chr 9:13,105,707...13,279,692
Ensembl chr 9:13,104,620...13,279,790 		JBrowse link
G MPLKIP M-phase specific PLK1 interacting protein IAGP HPO ORPHA:33364 NCBI chr 7:40,126,027...40,134,622
Ensembl chr 7:40,126,027...40,134,622 		JBrowse link
G MSL3 MSL complex subunit 3 IAGP HPO PMID:30224647 MIM:301032 NCBI chr  X:11,758,159...11,775,772
Ensembl chr  X:11,758,159...11,775,772 		JBrowse link
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP HPO ORPHA:644 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:15466014 PMID:16969869 PMID:17562939 PMID:20301353 PMID:24830958 More... NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase IAGP HPO ORPHA:395 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G MTOR mechanistic target of rapamycin kinase IAGP HPO PMID:25851998 MIM:616638 ORPHA:457485 ORPHA:99802 NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,531...11,262,556 		JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase IAGP HPO ORPHA:2169 NCBI chr 5:7,850,859...7,901,113
Ensembl chr 5:7,851,186...7,906,025 		JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP HPO PMID:30573562 PMID:37710961 MIM:620748 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,938,396...15,947,022 		JBrowse link
G MYMK myomaker, myoblast fusion factor IAGP HPO MIM:254940 ORPHA:1358 NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612 		JBrowse link
G MYMX myomixer, myoblast fusion factor IAGP HPO ORPHA:1358 NCBI chr 6:44,192,721...44,218,234
Ensembl chr 6:44,216,926...44,218,236 		JBrowse link
G MYT1L myelin transcription factor 1 like IAGP HPO ORPHA:647799 NCBI chr 2:1,789,113...2,331,275
Ensembl chr 2:1,789,113...2,331,664 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP HPO PMID:21700266 MIM:300855 ORPHA:276432 NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080 		JBrowse link
G NADK2 NAD kinase 2, mitochondrial IAGP HPO PMID:24847004 PMID:27940755 MIM:616034 ORPHA:431361 NCBI chr 5:36,192,589...36,242,279
Ensembl chr 5:36,192,589...36,242,279 		JBrowse link
G NAE1 NEDD8 activating enzyme E1 subunit 1 IAGP HPO PMID:36608681 MIM:620210 NCBI chr16:66,802,878...66,830,976
Ensembl chr16:66,802,874...66,873,256 		JBrowse link
G NANS N-acetylneuraminate synthase IAGP HPO MIM:610442 NCBI chr 9:98,056,732...98,083,077
Ensembl chr 9:98,056,674...98,083,087 		JBrowse link
G NAXD NAD(P)HX dehydratase IAGP HPO PMID:30576410 MIM:618321 NCBI chr13:110,615,460...110,639,996
Ensembl chr13:110,615,512...110,639,996 		JBrowse link
G NAXE NAD(P)HX epimerase IAGP HPO PMID:27616477 MIM:617186 NCBI chr 1:156,591,776...156,594,299
Ensembl chr 1:156,591,743...156,609,507 		JBrowse link
G NBAS NBAS subunit of NRZ tethering complex IAGP HPO PMID:18834968 MIM:612394 NCBI chr 2:14,778,909...15,561,334
Ensembl chr 2:15,166,913...15,561,340 		JBrowse link
G NCAPD3 non-SMC condensin II complex subunit D3 IAGP HPO ORPHA:2512 NCBI chr11:134,150,113...134,225,461
Ensembl chr11:134,150,113...134,225,504 		JBrowse link
G NCAPG2 non-SMC condensin II complex subunit G2 IAGP HPO PMID:30609410 MIM:618460 NCBI chr 7:158,631,169...158,704,804
Ensembl chr 7:158,628,224...158,704,825 		JBrowse link
G NDE1 nudE neurodevelopment protein 1 IAGP HPO PMID:22526350 MIM:605013 ORPHA:2177 NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691 		JBrowse link
G NDN necdin, MAGE family member IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:23,685,400...23,687,305
Ensembl chr15:23,685,400...23,687,305 		JBrowse link
G NDST1 N-deacetylase and N-sulfotransferase 1 IAGP HPO PMID:25125150 MIM:616116 NCBI chr 5:150,497,779...150,558,211
Ensembl chr 5:150,485,648...150,558,211 		JBrowse link
G NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 IAGP HPO PMID:30245030 MIM:618253 NCBI chr22:42,085,526...42,090,772
Ensembl chr22:42,085,526...42,090,884 		JBrowse link
G NDUFA8 NADH:ubiquinone oxidoreductase subunit A8 IAGP HPO PMID:32385911 MIM:619272 NCBI chr 9:122,132,466...122,159,779
Ensembl chr 9:122,144,058...122,159,779 		JBrowse link
G NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 IAGP HPO PMID:11220739 MIM:618228 NCBI chr 1:161,197,417...161,214,395
Ensembl chr 1:161,197,104...161,214,723 		JBrowse link
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 IAGP HPO PMID:9837812 MIM:618222 NCBI chr11:68,030,681...68,036,644
Ensembl chr11:68,030,617...68,036,647 		JBrowse link
G NEK10 NIMA related kinase 10 IAGP HPO ORPHA:244 NCBI chr 3:27,106,484...27,369,383
Ensembl chr 3:27,106,484...27,369,460 		JBrowse link
G NEXMIF neurite extension and migration factor IAGP HPO ORPHA:85277 NCBI chr  X:74,732,856...74,925,452
Ensembl chr  X:74,732,856...74,925,472 		JBrowse link
G NFIA nuclear factor I A IAGP HPO PMID:24462883 MIM:613735 ORPHA:401986 NCBI chr 1:61,077,227...61,462,788
Ensembl chr 1:60,865,259...61,462,788 		JBrowse link
G NFIB nuclear factor I B IAGP HPO PMID:30388402 MIM:618286 NCBI chr 9:14,081,843...14,532,077
Ensembl chr 9:14,081,843...14,398,983 		JBrowse link
G NFIX nuclear factor I X IAGP HPO PMID:20673863 PMID:20949508 PMID:26200704 MIM:602535 MIM:614753 ORPHA:420179 ORPHA:561 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		JBrowse link
G NGLY1 N-glycanase 1 IAGP HPO ORPHA:404454 NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,717...25,790,039 		JBrowse link
G NHLRC2 NHL repeat containing 2 IAGP HPO PMID:32435055 MIM:618278 NCBI chr10:113,854,661...113,917,194
Ensembl chr10:113,854,475...113,917,194 		JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP HPO ORPHA:199 NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413 		JBrowse link
G NKAIN2 sodium/potassium transporting ATPase interacting 2 IAGP DNA:SNP:intron:rs2626129(human) RGD PMID:31711042 RGD:596948391 NCBI chr 6:123,803,865...124,825,640
Ensembl chr 6:123,803,865...124,825,640 		JBrowse link
G NME5 NME/NM23 family member 5 IAGP HPO ORPHA:244 NCBI chr 5:138,115,175...138,139,428
Ensembl chr 5:138,115,169...138,139,443 		JBrowse link
G NME8 NME/NM23 family member 8 IAGP HPO ORPHA:244 NCBI chr 7:37,848,597...37,900,397
Ensembl chr 7:37,848,597...37,900,397 		JBrowse link
G NOTCH2NLC notch 2 N-terminal like C IAGP HPO PMID:27797808 MIM:603472 NCBI chr 1:149,390,621...149,471,833
Ensembl chr 1:149,390,621...149,471,833 		JBrowse link
G NPAP1 nuclear pore associated protein 1 IAGP HPO PMID:20301505 MIM:176270 NCBI chr15:24,675,775...24,683,393
Ensembl chr15:24,675,775...24,683,393 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO ORPHA:2612 NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G NRCAM neuronal cell adhesion molecule IAGP HPO PMID:35108495 MIM:619833 NCBI chr 7:108,147,649...108,456,720
Ensembl chr 7:108,147,623...108,456,717 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO PMID:16222665 PMID:30461603 MIM:117550 ORPHA:821 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,787...177,300,213 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP HPO MIM:194190 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,870,559...1,982,207 		JBrowse link
G NUP188 nucleoporin 188 IAGP DNA:frameshift mutations, nonsense mutations:CDS:multiple HPO
RGD		 PMID:32021605 PMID:32275884 MIM:618804, RGD:243048418 NCBI chr 9:128,947,699...129,007,096
Ensembl chr 9:128,947,683...129,007,835 		JBrowse link
G NUP37 nucleoporin 37 IAGP HPO ORPHA:2512 NCBI chr12:102,073,103...102,120,114
Ensembl chr12:102,073,103...102,120,120 		JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,874...28,099,664 		JBrowse link
G OCLN occludin IAGP HPO MIM:251290 NCBI chr 5:69,492,547...69,558,104
Ensembl chr 5:69,492,184...69,558,104 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO MIM:309000 ORPHA:534 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		JBrowse link
G ODAD1 outer dynein arm docking complex subunit 1 IAGP HPO ORPHA:244 NCBI chr19:48,296,452...48,321,971
Ensembl chr19:48,296,355...48,321,971 		JBrowse link
G ODAD2 outer dynein arm docking complex subunit 2 IAGP HPO ORPHA:244 NCBI chr10:27,812,168...27,999,675
Ensembl chr10:27,775,186...27,999,532 		JBrowse link
G ODAD3 outer dynein arm docking complex subunit 3 IAGP HPO ORPHA:244 NCBI chr19:11,420,605...11,435,782
Ensembl chr19:11,420,604...11,435,782 		JBrowse link
G ODAD4 outer dynein arm docking complex subunit 4 IAGP HPO ORPHA:244 NCBI chr17:41,930,617...41,966,503
Ensembl chr17:41,930,617...41,966,503 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO PMID:16783569 MIM:300209 ORPHA:244 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,675...13,777,955 		JBrowse link
G OGDH oxoglutarate dehydrogenase IAGP HPO PMID:32383294 MIM:203740 NCBI chr 7:44,606,627...44,709,066
Ensembl chr 7:44,606,549...44,709,070 		JBrowse link
G OPHN1 oligophrenin 1 IAGP HPO PMID:12807966 MIM:300486 ORPHA:137831 NCBI chr  X:68,042,344...68,433,841
Ensembl chr  X:67,949,349...68,434,120 		JBrowse link
G OSGEP O-sialoglycoprotein endopeptidase IAGP HPO MIM:617729 NCBI chr14:20,446,401...20,454,812
Ensembl chr14:20,446,401...20,455,089 		JBrowse link
G OSTM1 osteoclastogenesis associated transmembrane protein 1 IAGP HPO PMID:16813530 PMID:23772242 MIM:259720 ORPHA:85179 NCBI chr 6:108,041,409...108,074,741
Ensembl chr 6:108,029,245...108,165,854 		JBrowse link
G OTUD5 OTU deubiquitinase 5 IAGP HPO PMID:33523931 MIM:301056 NCBI chr  X:48,922,024...48,958,381
Ensembl chr  X:48,922,024...48,958,386 		JBrowse link
G OTUD6B OTU deubiquitinase 6B IAGP HPO MIM:617452 ORPHA:505237 NCBI chr 8:91,070,344...91,087,093
Ensembl chr 8:91,070,196...91,087,095 		JBrowse link
G P3H1 prolyl 3-hydroxylase 1 IAGP HPO PMID:18834968 MIM:612394 NCBI chr 1:42,746,374...42,767,028
Ensembl chr 1:42,746,335...42,767,084 		JBrowse link
G P4HA1 prolyl 4-hydroxylase subunit alpha 1 IAGP HPO PMID:18834968 MIM:612394 NCBI chr10:73,007,217...73,096,866
Ensembl chr10:73,005,811...73,096,983 		JBrowse link
G P4HB prolyl 4-hydroxylase subunit beta IAGP HPO PMID:18834968 MIM:612394 NCBI chr17:81,843,166...81,860,535
Ensembl chr17:81,843,159...81,860,856 		JBrowse link
G PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 IAGP HPO MIM:607432 ORPHA:217385 ORPHA:95232 NCBI chr17:2,593,183...2,685,615
Ensembl chr17:2,593,183...2,685,616 		JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP HPO ORPHA:84 NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321 		JBrowse link
G PARN poly(A)-specific ribonuclease IAGP HPO ORPHA:3322 NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,699...14,632,728 		JBrowse link
G PAX6 paired box 6 IAGP HPO PMID:12721955 MIM:120200 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961 		JBrowse link
G PCDH19 protocadherin 19 IAGP HPO PMID:19752159 MIM:300088 NCBI chr  X:100,291,644...100,410,273
Ensembl chr  X:100,291,644...100,410,296 		JBrowse link
G PCNT pericentrin IAGP HPO ORPHA:2637 NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769 		JBrowse link
G PDCD6IP programmed cell death 6 interacting protein IAGP HPO ORPHA:2512 NCBI chr 3:33,798,630...33,869,703
Ensembl chr 3:33,798,571...33,869,707 		JBrowse link
G PDE2A phosphodiesterase 2A IAGP HPO PMID:32196122 MIM:619150 NCBI chr11:72,576,141...72,674,422
Ensembl chr11:72,576,141...72,674,591 		JBrowse link
G PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 IAGP HPO MIM:312170 ORPHA:79243 NCBI chr  X:19,343,927...19,361,718
Ensembl chr  X:19,343,893...19,361,718 		JBrowse link
G PDHB pyruvate dehydrogenase E1 subunit beta IAGP HPO ORPHA:255138 NCBI chr 3:58,427,630...58,433,832
Ensembl chr 3:58,427,630...58,434,012 		JBrowse link
G PDHX pyruvate dehydrogenase complex component X IAGP HPO ORPHA:255182 NCBI chr11:34,915,920...34,996,128
Ensembl chr11:34,915,829...35,020,591 		JBrowse link
G PDPN podoplanin IAGP HPO ORPHA:1606 NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957 		JBrowse link
G PHACTR1 phosphatase and actin regulator 1 IAGP HPO PMID:30256902 MIM:618298 NCBI chr 6:12,716,767...13,287,837
Ensembl chr 6:12,716,312...13,290,446 		JBrowse link
G PHC1 polyhomeotic homolog 1 IAGP HPO ORPHA:2512 NCBI chr12:8,913,843...8,941,467
Ensembl chr12:8,913,827...8,942,938 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase IAGP HPO PMID:24836451 MIM:256520 ORPHA:79351 NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,227 		JBrowse link
G PHLDB1 pleckstrin homology like domain family B member 1 IAGP HPO PMID:18834968 MIM:612394 NCBI chr11:118,606,436...118,658,028
Ensembl chr11:118,606,396...118,658,038 		JBrowse link
G PI4K2A phosphatidylinositol 4-kinase type 2 alpha IAGP HPO PMID:30564627 PMID:35880319 MIM:620732 NCBI chr10:97,640,671...97,676,434
Ensembl chr10:97,640,671...97,676,757 		JBrowse link
G PI4KA phosphatidylinositol 4-kinase alpha IAGP HPO PMID:25855803 MIM:616531 NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO PMID:24259184 PMID:24259288 MIM:300868 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G PIGB phosphatidylinositol glycan anchor biosynthesis class B IAGP HPO PMID:31256876 MIM:618580 NCBI chr15:55,319,222...55,355,648
Ensembl chr15:55,318,960...55,355,648 		JBrowse link
G PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP HPO ORPHA:2059 ORPHA:280633 NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118 		JBrowse link
G PIGO phosphatidylinositol glycan anchor biosynthesis class O IAGP HPO PMID:22683086 MIM:614749 NCBI chr 9:35,088,688...35,096,591
Ensembl chr 9:35,085,493...35,096,632 		JBrowse link
G PIGQ phosphatidylinositol glycan anchor biosynthesis class Q IAGP HPO PMID:31148362 MIM:618548 NCBI chr16:569,968...584,109
Ensembl chr16:566,995...584,120 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO MIM:602501 ORPHA:60040 ORPHA:99802 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IAGP HPO MIM:613328 ORPHA:221139 NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,730,117 		JBrowse link
G PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 IAGP HPO PMID:22729224 MIM:603387 NCBI chr19:18,153,163...18,170,532
Ensembl chr19:18,153,160...18,170,541 		JBrowse link
G PLAA phospholipase A2 activating protein IAGP HPO PMID:28007986 PMID:28413018 MIM:617527 ORPHA:521426 NCBI chr 9:26,903,372...26,947,242
Ensembl chr 9:26,903,372...26,947,490 		JBrowse link
G PLCH1 phospholipase C eta 1 IAGP HPO PMID:33820834 MIM:619895 NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,085 		JBrowse link
G PLG plasminogen IAGP HPO PMID:9242524 MIM:217090 NCBI chr 6:160,702,193...160,754,097
Ensembl chr 6:160,702,105...160,754,097 		JBrowse link
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 IAGP HPO PMID:18834968 MIM:612394 NCBI chr 3:146,069,440...146,161,184
Ensembl chr 3:146,035,139...146,163,725 		JBrowse link
G PLOD3 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 IAGP HPO PMID:18834968 MIM:612394 NCBI chr 7:101,205,984...101,217,581
Ensembl chr 7:101,205,977...101,219,968 		JBrowse link
G PLPBP pyridoxal phosphate binding protein IAGP HPO PMID:27912044 MIM:617290 ORPHA:3006 NCBI chr 8:37,762,546...37,779,768
Ensembl chr 8:37,762,585...37,779,770 		JBrowse link
G PLS3 plastin 3 IAGP HPO PMID:18834968 MIM:612394 NCBI chr  X:115,561,174...115,650,861
Ensembl chr  X:115,560,928...115,650,861 		JBrowse link
G PNKP polynucleotide kinase 3'-phosphatase IAGP HPO PMID:20118933 MIM:613402 NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351 		JBrowse link
G POGZ pogo transposable element derived with ZNF domain IAGP HPO PMID:28480548 PMID:31136090 PMID:31782611 PMID:32359026 PMID:34206215 More... MIM:616364 NCBI chr 1:151,402,724...151,459,494
Ensembl chr 1:151,402,724...151,459,494 		JBrowse link
G POLR1A RNA polymerase I subunit A IAGP HPO PMID:28051070 PMID:36917474 PMID:37075751 MIM:616462 MIM:620675 NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155 		JBrowse link
G POLR2A RNA polymerase II subunit A IAGP HPO PMID:31353023 MIM:618603 NCBI chr17:7,484,366...7,514,616
Ensembl chr17:7,484,366...7,514,616 		JBrowse link
G POLRMT RNA polymerase mitochondrial IAGP HPO PMID:33602924 MIM:619743 NCBI chr19:617,221...633,537
Ensembl chr19:617,168...633,572 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP HPO MIM:253280 MIM:613151 ORPHA:370959 ORPHA:899 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,681...46,220,305 		JBrowse link
G POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) IAGP HPO PMID:22958903 MIM:614830 ORPHA:899 NCBI chr 3:43,079,234...43,106,079
Ensembl chr 3:43,079,229...43,106,085 		JBrowse link
G POMK protein O-mannose kinase IAGP HPO ORPHA:370959 ORPHA:899 NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP ClinVar Annotator: match by term: Ventriculomegaly ClinVar
HPO		 PMID:12369018 PMID:16575835 PMID:17559086 PMID:18640039 PMID:18752264 More... MIM:236670 ORPHA:370959 ORPHA:370968 ORPHA:370980 ORPHA:899 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP HPO MIM:236670 MIM:613150 MIM:613156 ORPHA:206559 ORPHA:370959 ORPHA:370968 ORPHA:899 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G PPFIBP1 PPFIA binding protein 1 IAGP HPO PMID:35830857 MIM:620024 NCBI chr12:27,524,206...27,695,564
Ensembl chr12:27,523,431...27,695,565 		JBrowse link
G PPIB peptidylprolyl isomerase B IAGP HPO PMID:18834968 MIM:612394 NCBI chr15:64,155,817...64,163,022
Ensembl chr15:64,155,740...64,163,159 		JBrowse link
G PPP1R21 protein phosphatase 1 regulatory subunit 21 IAGP HPO PMID:29808498 MIM:619383 NCBI chr 2:48,440,766...48,515,386
Ensembl chr 2:48,440,598...48,515,391 		JBrowse link
G PPP2CA protein phosphatase 2 catalytic subunit alpha IAGP HPO PMID:30595372 MIM:618354 NCBI chr 5:134,194,332...134,226,073
Ensembl chr 5:134,193,978...134,226,083 		JBrowse link
G PPP2R1A protein phosphatase 2 scaffold subunit Aalpha IAGP HPO PMID:26168268 MIM:616362 ORPHA:457284 NCBI chr19:52,190,052...52,229,518
Ensembl chr19:52,170,936...52,229,518 		JBrowse link
G PPP2R5D protein phosphatase 2 regulatory subunit B'delta IAGP HPO PMID:25533962 PMID:26168268 MIM:616355 NCBI chr 6:42,984,570...43,012,342
Ensembl chr 6:42,984,538...43,012,346 		JBrowse link
G PRDM16 PR/SET domain 16 IAGP HPO ORPHA:1606 NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621 		JBrowse link
G PRKCZ protein kinase C zeta IAGP HPO ORPHA:1606 NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395 		JBrowse link
G PRNP prion protein (Kanno blood group) IAGP HPO ORPHA:157941 NCBI chr20:4,686,456...4,701,588
Ensembl chr20:4,685,730...4,701,590 		JBrowse link
G PSAP prosaposin IAGP HPO PMID:29995202 MIM:611722 NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,289...71,851,330 		JBrowse link
G PSAT1 phosphoserine aminotransferase 1 IAGP HPO PMID:25152457 MIM:616038 NCBI chr 9:78,297,125...78,330,093
Ensembl chr 9:78,297,094...78,330,098 		JBrowse link
G PTCH1 patched 1 IAGP HPO ORPHA:77301 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G PTDSS1 phosphatidylserine synthase 1 IAGP HPO PMID:24241535 MIM:151050 NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP HPO ORPHA:508498 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709 		JBrowse link
G PUS3 pseudouridine synthase 3 IAGP HPO PMID:27055666 MIM:617051 ORPHA:488627 NCBI chr11:125,893,485...125,903,206
Ensembl chr11:125,893,485...125,903,224 		JBrowse link
G PUS7 pseudouridine synthase 7 IAGP HPO PMID:30526862 MIM:618342 NCBI chr 7:105,456,501...105,522,271
Ensembl chr 7:105,439,661...105,522,272 		JBrowse link
G PWAR1 Prader Willi/Angelman region RNA 1 IAGP HPO PMID:20301505 MIM:176270 NCBI chr15:25,135,642...25,138,053
Ensembl chr15:25,135,642...25,138,055 		JBrowse link
G PWRN1 Prader-Willi region non-protein coding RNA 1 IAGP HPO PMID:20301505 MIM:176270 NCBI chr15:24,558,157...24,587,780
Ensembl chr15:24,101,827...24,823,365 		JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 IAGP HPO ORPHA:2512 NCBI chr 1:225,919,878...225,924,250
Ensembl chr 1:225,919,397...225,924,340 		JBrowse link
G QARS1 glutaminyl-tRNA synthetase 1 IAGP HPO PMID:24656866 MIM:615760 NCBI chr 3:49,095,932...49,104,757
Ensembl chr 3:49,095,932...49,105,130 		JBrowse link
G RAB11B RAB11B, member RAS oncogene family IAGP HPO PMID:29106825 MIM:617807 NCBI chr19:8,390,360...8,404,434
Ensembl chr19:8,389,981...8,405,873 		JBrowse link
G RAB18 RAB18, member RAS oncogene family IAGP HPO PMID:21473985 MIM:614222 NCBI chr10:27,504,304...27,542,239
Ensembl chr10:27,504,174...27,545,117 		JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP HPO PMID:17394201 MIM:212720 NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529 		JBrowse link
G RAC1 Rac family small GTPase 1 IAGP HPO ORPHA:500159 NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,098...6,403,998 		JBrowse link
G RAC3 Rac family small GTPase 3 IAGP HPO PMID:30293988 MIM:618577 NCBI chr17:82,031,678...82,034,204
Ensembl chr17:82,031,637...82,034,204 		JBrowse link
G RAD21 RAD21 cohesin complex component IAGP HPO PMID:32696056 MIM:614701 ORPHA:199 ORPHA:502 NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,849 		JBrowse link
G RAD51 RAD51 recombinase IAGP HPO ORPHA:84 NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,344 		JBrowse link
G RAD51C RAD51 paralog C IAGP HPO ORPHA:84 NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611 		JBrowse link
G RAI1 retinoic acid induced 1 IAGP HPO PMID:20301487 MIM:182290 ORPHA:819 NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453 		JBrowse link
G RAP1B RAP1B, member of RAS oncogene family IAGP HPO PMID:37850357 MIM:620654 NCBI chr12:68,610,899...68,671,901
Ensembl chr12:68,610,410...68,671,901 		JBrowse link
G RERE arginine-glutamic acid dipeptide repeats IAGP HPO PMID:27087320 MIM:616975 ORPHA:1606 ORPHA:494344 NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921 		JBrowse link
G RFWD3 ring finger and WD repeat domain 3 IAGP HPO MIM:617784 ORPHA:84 NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,393...74,666,912 		JBrowse link
G RHOBTB2 Rho related BTB domain containing 2 IAGP HPO PMID:29276004 MIM:618004 NCBI chr 8:22,950,813...23,020,199
Ensembl chr 8:22,987,222...23,020,723 		JBrowse link
G RNASEH2A ribonuclease H2 subunit A IAGP HPO MIM:610333 ORPHA:51 NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,505...12,813,643 		JBrowse link
G RNASEH2B ribonuclease H2 subunit B IAGP HPO ORPHA:51 NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120 		JBrowse link
G RNASEH2C ribonuclease H2 subunit C IAGP HPO ORPHA:51 NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818 		JBrowse link
G RNASET2 ribonuclease T2 IAGP HPO MIM:612951 NCBI chr 6:166,922,113...166,956,550
Ensembl chr 6:166,922,113...166,957,448 		JBrowse link
G RNF113A ring finger protein 113A IAGP HPO ORPHA:33364 NCBI chr  X:119,870,475...119,871,733
Ensembl chr  X:119,870,475...119,871,733 		JBrowse link
G RNF125 ring finger protein 125 IAGP HPO PMID:25196541 MIM:616260 NCBI chr18:32,018,825...32,090,806
Ensembl chr18:32,018,174...32,088,144 		JBrowse link
G RNF213 ring finger protein 213 IAGP HPO ORPHA:2573 NCBI chr17:80,260,852...80,398,794
Ensembl chr17:80,260,852...80,398,794 		JBrowse link
G RNU4-2 RNA, U4 small nuclear 2 IAGP HPO PMID:38991538 PMID:39369315 MIM:620851 NCBI chr12:120,291,759...120,291,903
Ensembl chr12:120,291,759...120,291,903 		JBrowse link
G RNU7-1 RNA, U7 small nuclear 1 IAGP HPO ORPHA:51 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878 		JBrowse link
G ROBO1 roundabout guidance receptor 1 IAGP HPO PMID:29194579 PMID:35227688 MIM:620305 NCBI chr 3:78,597,239...79,767,998
Ensembl chr 3:78,597,239...79,767,998 		JBrowse link
G ROGDI rogdi atypical leucine zipper IAGP HPO MIM:226750 NCBI chr16:4,796,968...4,802,633
Ensembl chr16:4,796,962...4,802,926 		JBrowse link
G RPGR retinitis pigmentosa GTPase regulator IAGP HPO ORPHA:244 NCBI chr  X:38,269,163...38,327,509
Ensembl chr  X:38,269,163...38,327,544 		JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 IAGP HPO PMID:30740391 MIM:303600 ORPHA:192 NCBI chr  X:20,149,911...20,267,097
Ensembl chr  X:20,149,911...20,267,519 		JBrowse link
G RRAS2 RAS related 2 IAGP HPO PMID:31130282 MIM:618624 NCBI chr11:14,277,920...14,364,506
Ensembl chr11:14,277,922...14,364,506 		JBrowse link
G RSPH1 radial spoke head component 1 IAGP HPO ORPHA:244 NCBI chr21:42,472,486...42,496,224
Ensembl chr21:42,472,486...42,496,366 		JBrowse link
G RSPH3 radial spoke head 3 IAGP HPO ORPHA:244 NCBI chr 6:158,962,980...159,000,202
Ensembl chr 6:158,970,084...159,000,202 		JBrowse link
G RSPH4A radial spoke head component 4A IAGP HPO ORPHA:244 NCBI chr 6:116,616,479...116,632,985
Ensembl chr 6:116,616,479...116,632,985 		JBrowse link
G RSPH9 radial spoke head component 9 IAGP HPO ORPHA:244 NCBI chr 6:43,645,036...43,672,600
Ensembl chr 6:43,644,229...43,672,604 		JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP HPO ORPHA:3322 NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253 		JBrowse link
G RTTN rotatin IAGP HPO ORPHA:468631 NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,206,028 		JBrowse link
G RXYLT1 ribitol xylosyltransferase 1 IAGP HPO ORPHA:899 NCBI chr12:63,779,909...63,809,562
Ensembl chr12:63,779,833...63,809,792 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 IAGP HPO ORPHA:51 NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893 		JBrowse link
G SARS1 seryl-tRNA synthetase 1 IAGP HPO ORPHA:2512 NCBI chr 1:109,213,893...109,238,182
Ensembl chr 1:109,213,844...109,238,773 		JBrowse link
G SASS6 SAS-6 centriolar assembly protein IAGP HPO ORPHA:2512 NCBI chr 1:100,083,570...100,132,930
Ensembl chr 1:100,083,563...100,132,955 		JBrowse link
G SATB1 SATB homeobox 1 IAGP HPO PMID:33513338 MIM:619229 NCBI chr 3:18,345,377...18,445,592
Ensembl chr 3:18,345,377...18,445,621 		JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 IAGP HPO PMID:10545952 MIM:604377 NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,564...50,526,461 		JBrowse link
G SEC16B SEC16 homolog B, endoplasmic reticulum export factor IAGP HPO PMID:18834968 MIM:612394 NCBI chr 1:177,928,788...177,984,284
Ensembl chr 1:177,923,956...177,984,303 		JBrowse link
G SEC24D SEC24 homolog D, COPII coat complex component IAGP HPO PMID:18834968 MIM:612394 NCBI chr 4:118,722,823...118,836,126
Ensembl chr 4:118,722,822...118,838,683 		JBrowse link
G SEC31A SEC31 homolog A, COPII coat complex component IAGP HPO PMID:30464055 MIM:618651 NCBI chr 4:82,818,509...82,900,569
Ensembl chr 4:82,818,081...82,901,166 		JBrowse link
G SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase IAGP HPO ORPHA:2524 NCBI chr 4:25,120,014...25,160,582
Ensembl chr 4:25,120,014...25,160,550 		JBrowse link
G SERPINF1 serpin family F member 1 IAGP HPO PMID:18834968 MIM:612394 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,761,979...1,777,627 		JBrowse link
G SERPINH1 serpin family H member 1 IAGP HPO PMID:18834968 MIM:612394 NCBI chr11:75,562,253...75,572,783
Ensembl chr11:75,561,564...75,572,787 		JBrowse link
G SETBP1 SET binding protein 1 IAGP HPO MIM:269150 ORPHA:798 NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510 		JBrowse link
G SETD2 SET domain containing 2, histone lysine methyltransferase IAGP ClinVar Annotator: match by term: Ventriculomegaly ClinVar
HPO		 PMID:24852293 PMID:31474318 MIM:616831 NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113 		JBrowse link
G SGMS2 sphingomyelin synthase 2 IAGP HPO PMID:18834968 MIM:612394 NCBI chr 4:107,824,563...107,915,047
Ensembl chr 4:107,824,563...107,915,047 		JBrowse link
G SH2B1 SH2B adaptor protein 1 IAGP HPO ORPHA:261197 NCBI chr16:28,846,606...28,874,205
Ensembl chr16:28,846,600...28,874,212 		JBrowse link
G SHANK3 SH3 and multiple ankyrin repeat domains 3 IAGP HPO MIM:606232 NCBI chr22:50,672,823...50,733,212
Ensembl chr22:50,674,408...50,733,212 		JBrowse link
G SHH sonic hedgehog signaling molecule IAGP HPO MIM:142945 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463 		JBrowse link
G SHMT2 serine hydroxymethyltransferase 2 IAGP HPO PMID:33015733 MIM:619121 NCBI chr12:57,229,711...57,234,935
Ensembl chr12:57,226,554...57,234,935 		JBrowse link
G SHPK sedoheptulokinase IAGP HPO ORPHA:440713 NCBI chr17:3,608,240...3,636,250
Ensembl chr17:3,608,240...3,636,250 		JBrowse link
G SHQ1 SHQ1, H/ACA ribonucleoprotein assembly factor IAGP HPO PMID:29178645 MIM:619922 NCBI chr 3:72,725,272...72,848,445
Ensembl chr 3:72,749,277...72,861,914 		JBrowse link
G SIM1 SIM bHLH transcription factor 1 IAGP HPO ORPHA:398079 NCBI chr 6:100,385,009...100,464,921
Ensembl chr 6:100,385,009...100,464,935 		JBrowse link
G SIN3A SIN3 transcription regulator family member A IAGP HPO PMID:27399968 MIM:613406 ORPHA:500166 NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842 		JBrowse link
G SIN3B SIN3 transcription regulator family member B IAGP HPO ORPHA:500166 NCBI chr19:16,829,398...16,880,349
Ensembl chr19:16,829,387...16,880,355 		JBrowse link
G SKI SKI proto-oncogene IAGP HPO ORPHA:1606 ORPHA:2462 NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213 		JBrowse link
G SLC10A7 solute carrier family 10 member 7 IAGP HPO PMID:18834968 MIM:612394 NCBI chr 4:146,253,981...146,521,940
Ensembl chr 4:146,253,975...146,522,372 		JBrowse link
G SLC12A6 solute carrier family 12 member 6 IAGP HPO PMID:16606917 MIM:218000 NCBI chr15:34,229,784...34,338,057
Ensembl chr15:34,229,784...34,338,060 		JBrowse link
G SLC25A1 solute carrier family 25 member 1 IAGP HPO MIM:615182 NCBI chr22:19,175,581...19,178,736
Ensembl chr22:19,175,575...19,178,788 		JBrowse link
G SLC25A19 solute carrier family 25 member 19 IAGP HPO ORPHA:99742 NCBI chr17:75,272,992...75,289,433
Ensembl chr17:75,272,012...75,289,968 		JBrowse link
G SLC31A1 solute carrier family 31 member 1 IAGP HPO PMID:35913762 MIM:620306 NCBI chr 9:113,221,544...113,264,492
Ensembl chr 9:113,221,191...113,264,492 		JBrowse link
G SLC32A1 solute carrier family 32 member 1 IAGP HPO PMID:36073542 MIM:620774 NCBI chr20:38,724,486...38,729,372
Ensembl chr20:38,724,486...38,729,372 		JBrowse link
G SLC39A8 solute carrier family 39 member 8 IAGP HPO ORPHA:468699 NCBI chr 4:102,251,041...102,345,482
Ensembl chr 4:102,251,080...102,431,258 		JBrowse link
G SLC6A9 solute carrier family 6 member 9 IAGP HPO PMID:27773429 MIM:617301 NCBI chr 1:43,996,483...44,031,462
Ensembl chr 1:43,991,500...44,031,467 		JBrowse link
G SLC9A6 solute carrier family 9 member A6 IAGP HPO ORPHA:85278 NCBI chr  X:135,973,837...136,047,269
Ensembl chr  X:135,973,841...136,047,269 		JBrowse link
G SLITRK2 SLIT and NTRK like family member 2 IAGP HPO PMID:35840571 MIM:301107 NCBI chr  X:145,817,829...145,829,856
Ensembl chr  X:145,817,819...145,829,856 		JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit IAGP HPO ORPHA:84 NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO MIM:300590 ORPHA:199 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G SMC3 structural maintenance of chromosomes 3 IAGP HPO ORPHA:199 NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,680...110,606,048 		JBrowse link
G SMO smoothened, frizzled class receptor IAGP HPO PMID:27236920 MIM:601707 ORPHA:1553 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,511...129,213,546 		JBrowse link
G SNIP1 Smad nuclear interacting protein 1 IAGP HPO PMID:22279524 MIM:614501 NCBI chr 1:37,534,449...37,554,293
Ensembl chr 1:37,534,449...37,554,293 		JBrowse link
G SNORD115-1 small nucleolar RNA, C/D box 115-1 IAGP HPO PMID:20301505 MIM:176270 NCBI chr15:25,170,723...25,170,804
Ensembl chr15:25,170,723...25,170,804 		JBrowse link
G SNORD116-1 small nucleolar RNA, C/D box 116-1 IAGP HPO PMID:20301505 MIM:176270 NCBI chr15:25,051,476...25,051,572
Ensembl chr15:25,051,477...25,051,571 		JBrowse link
G SNRPN small nuclear ribonucleoprotein polypeptide N IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723 		JBrowse link
G SON SON DNA and RNA binding protein IAGP HPO PMID:27545680 MIM:617140 ORPHA:500150 NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481 		JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO ORPHA:140 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G SP7 Sp7 transcription factor IAGP HPO PMID:18834968 MIM:612394 NCBI chr12:53,326,575...53,344,793
Ensembl chr12:53,326,575...53,345,315 		JBrowse link
G SPAG1 sperm associated antigen 1 IAGP HPO ORPHA:244 NCBI chr 8:100,158,038...100,241,904
Ensembl chr 8:100,157,906...100,259,278 		JBrowse link
G SPARC secreted protein acidic and cysteine rich IAGP HPO PMID:18834968 MIM:612394 NCBI chr 5:151,661,096...151,686,915
Ensembl chr 5:151,661,096...151,687,352 		JBrowse link
G SPEF2 sperm flagellar 2 IAGP HPO ORPHA:244 NCBI chr 5:35,617,863...35,814,611
Ensembl chr 5:35,617,844...35,814,611 		JBrowse link
G SPEN spen family transcriptional repressor IAGP HPO ORPHA:1606 NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456 		JBrowse link
G SPTBN1 spectrin beta, non-erythrocytic 1 IAGP HPO PMID:34211179 MIM:619475 NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,288...54,671,446 		JBrowse link
G STAC3 SH3 and cysteine rich domain 3 IAGP HPO MIM:255995 NCBI chr12:57,243,458...57,251,187
Ensembl chr12:57,243,453...57,251,188 		JBrowse link
G STIL STIL centriolar assembly protein IAGP HPO ORPHA:2512 NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892 		JBrowse link
G STK36 serine/threonine kinase 36 IAGP HPO ORPHA:244 NCBI chr 2:218,672,086...218,702,717
Ensembl chr 2:218,672,052...218,702,717 		JBrowse link
G STRADA STE20 related adaptor alpha IAGP HPO MIM:611087 ORPHA:500533 NCBI chr17:63,702,832...63,741,986
Ensembl chr17:63,682,336...63,741,986 		JBrowse link
G SUCLA2 succinate-CoA ligase ADP-forming subunit beta IAGP HPO ORPHA:1933 NCBI chr13:47,942,656...48,001,273
Ensembl chr13:47,745,736...48,037,968 		JBrowse link
G SUMF1 sulfatase modifying factor 1 IAGP HPO MIM:272200 NCBI chr 3:4,034,486...4,467,269
Ensembl chr 3:3,700,814...4,467,273 		JBrowse link
G SV2A synaptic vesicle glycoprotein 2A IAGP HPO PMID:26002053 PMID:37985816 MIM:620772 NCBI chr 1:149,903,318...149,917,844
Ensembl chr 1:149,903,318...149,918,572 		JBrowse link
G TAF1 TATA-box binding protein associated factor 1 IAGP HPO PMID:26637982 MIM:300966 NCBI chr  X:71,366,357...71,530,525
Ensembl chr  X:71,366,131...71,532,374 		JBrowse link
G TAF13 TATA-box binding protein associated factor 13 IAGP HPO ORPHA:2512 NCBI chr 1:109,064,140...109,076,003
Ensembl chr 1:109,062,496...109,076,012 		JBrowse link
G TAPT1 transmembrane anterior posterior transformation 1 IAGP HPO PMID:18834968 PMID:26365339 MIM:612394 MIM:616897 NCBI chr 4:16,160,505...16,227,390
Ensembl chr 4:16,160,505...16,227,410 		JBrowse link
G TARS1 threonyl-tRNA synthetase 1 IAGP HPO ORPHA:33364 NCBI chr 5:33,440,696...33,468,091
Ensembl chr 5:33,440,696...33,469,531 		JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP HPO MIM:220500 NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,671 		JBrowse link
G TBC1D2B TBC1 domain family member 2B IAGP HPO PMID:32623794 MIM:619323 NCBI chr15:77,994,985...78,077,711
Ensembl chr15:77,984,036...78,077,724 		JBrowse link
G TBCD tubulin folding cofactor D IAGP HPO PMID:27666370 MIM:617193 NCBI chr17:82,752,065...82,945,914
Ensembl chr17:82,751,855...82,945,918 		JBrowse link
G TBCE tubulin folding cofactor E IAGP HPO MIM:241410 ORPHA:2323 NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443 		JBrowse link
G TBCK TBC1 domain containing kinase IAGP HPO PMID:27040692 PMID:32363625 MIM:616900 ORPHA:488632 NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683 		JBrowse link
G TBK1 TANK binding kinase 1 IAGP HPO PMID:34363755 MIM:620880 NCBI chr12:64,452,120...64,502,114
Ensembl chr12:64,452,090...64,502,114 		JBrowse link
G TBL1XR1 TBL1X/Y related 1 IAGP HPO ORPHA:487825 NCBI chr 3:177,019,344...177,201,800
Ensembl chr 3:177,019,340...177,228,000 		JBrowse link
G TCF4 transcription factor 4 IAGP HPO PMID:17436255 MIM:610954 NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787 		JBrowse link
G TENT5A terminal nucleotidyltransferase 5A IAGP HPO PMID:18834968 MIM:612394 NCBI chr 6:81,745,730...81,752,681
Ensembl chr 6:81,491,439...81,752,774 		JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO ORPHA:3322 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,085 		JBrowse link
G TET3 tet methylcytosine dioxygenase 3 IAGP HPO PMID:31928709 MIM:618798 NCBI chr 2:73,983,631...74,135,498
Ensembl chr 2:73,984,910...74,108,177 		JBrowse link
G TGDS TDP-glucose 4,6-dehydratase IAGP HPO ORPHA:1388 NCBI chr13:94,574,054...94,596,273
Ensembl chr13:94,574,054...94,596,276 		JBrowse link
G THOC2 THO complex subunit 2 IAGP HPO PMID:32116545 MIM:300957 NCBI chr  X:123,600,569...123,733,052
Ensembl chr  X:123,600,561...123,733,056 		JBrowse link
G THOC6 THO complex subunit 6 IAGP HPO ORPHA:363444 NCBI chr16:3,024,035...3,027,750
Ensembl chr16:3,022,541...3,027,755 		JBrowse link
G TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 IAGP HPO PMID:28604674 MIM:618251 NCBI chr 3:119,498,547...119,525,090
Ensembl chr 3:119,498,515...119,525,090 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 IAGP HPO ORPHA:3322 NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663 		JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 IAGP HPO ORPHA:1394 NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755 		JBrowse link
G TMEM107 transmembrane protein 107 IAGP HPO MIM:617563 NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,405 		JBrowse link
G TMEM38B transmembrane protein 38B IAGP HPO PMID:18834968 MIM:612394 NCBI chr 9:105,694,541...105,776,629
Ensembl chr 9:105,694,519...105,776,629 		JBrowse link
G TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 IAGP HPO PMID:27773428 MIM:617255 NCBI chr12:88,142,307...88,199,887
Ensembl chr12:88,142,181...88,199,887 		JBrowse link
G TMX2 thioredoxin related transmembrane protein 2 IAGP HPO PMID:31586943 MIM:618730 NCBI chr11:57,712,593...57,740,973
Ensembl chr11:57,712,562...57,742,987 		JBrowse link
G TNNI3 troponin I3, cardiac type IAGP HPO PMID:12531876 MIM:115210 NCBI chr19:55,151,767...55,157,732
Ensembl chr19:55,151,767...55,157,773 		JBrowse link
G TNPO2 transportin 2 IAGP HPO PMID:34314705 MIM:619556 NCBI chr19:12,699,201...12,723,932
Ensembl chr19:12,699,201...12,724,011 		JBrowse link
G TOE1 target of EGR1, exonuclease IAGP HPO PMID:28092684 MIM:614969 NCBI chr 1:45,340,170...45,343,973
Ensembl chr 1:45,340,012...45,343,976 		JBrowse link
G TPRKB TP53RK binding protein IAGP HPO PMID:28805828 MIM:617731 NCBI chr 2:73,729,873...73,737,345
Ensembl chr 2:73,729,104...73,737,421 		JBrowse link
G TRAF7 TNF receptor associated factor 7 IAGP HPO PMID:29961569 MIM:618164 NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,692...2,178,129 		JBrowse link
G TRAIP TRAF interacting protein IAGP HPO PMID:26595769 MIM:616777 NCBI chr 3:49,828,601...49,856,564
Ensembl chr 3:49,828,595...49,856,597 		JBrowse link
G TRAPPC10 trafficking protein particle complex subunit 10 IAGP HPO ORPHA:2512 NCBI chr21:44,012,309...44,106,552
Ensembl chr21:44,012,309...44,106,553 		JBrowse link
G TRAPPC12 trafficking protein particle complex subunit 12 IAGP HPO PMID:28777934 MIM:617669 ORPHA:500144 NCBI chr 2:3,379,694...3,479,565
Ensembl chr 2:3,379,674...3,485,094 		JBrowse link
G TRAPPC14 trafficking protein particle complex subunit 14 IAGP HPO ORPHA:2512 NCBI chr 7:100,154,423...100,158,723
Ensembl chr 7:100,154,420...100,158,723 		JBrowse link
G TRAPPC6B trafficking protein particle complex subunit 6B IAGP HPO PMID:28626029 MIM:617862 NCBI chr14:39,147,814...39,170,333
Ensembl chr14:39,147,811...39,170,532 		JBrowse link
G TREM2 triggering receptor expressed on myeloid cells 2 IAGP HPO ORPHA:2770 NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,488...41,163,186 		JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP HPO ORPHA:51 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
G TRIM37 tripartite motif containing 37 IAGP HPO PMID:7726235 MIM:253250 NCBI chr17:58,967,201...59,106,880
Ensembl chr17:58,982,638...59,106,921 		JBrowse link
G TRIM71 tripartite motif containing 71 IAGP HPO PMID:29983323 MIM:618667 NCBI chr 3:32,817,997...32,897,824
Ensembl chr 3:32,817,526...32,897,824 		JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 IAGP HPO ORPHA:1052 NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357 		JBrowse link
G TRPM3 transient receptor potential cation channel subfamily M member 3 IAGP HPO PMID:31278393 MIM:620224 NCBI chr 9:70,529,060...71,446,971
Ensembl chr 9:70,529,060...71,446,977 		JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP HPO ORPHA:502 NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673 		JBrowse link
G TRPV6 transient receptor potential cation channel subfamily V member 6 IAGP HPO PMID:29861107 MIM:618188 NCBI chr 7:142,871,208...142,885,745
Ensembl chr 7:142,871,208...142,885,745 		JBrowse link
G TRRAP transformation/transcription domain associated protein IAGP HPO PMID:30827496 MIM:618454 NCBI chr 7:98,878,532...99,013,241
Ensembl chr 7:98,877,933...99,050,831 		JBrowse link
G TSEN15 tRNA splicing endonuclease subunit 15 IAGP HPO ORPHA:2524 NCBI chr 1:184,051,730...184,097,485
Ensembl chr 1:184,051,651...184,123,978 		JBrowse link
G TSEN2 tRNA splicing endonuclease subunit 2 IAGP HPO MIM:612389 ORPHA:2524 NCBI chr 3:12,480,231...12,539,624
Ensembl chr 3:12,480,529...12,541,549 		JBrowse link
G TSEN34 tRNA splicing endonuclease subunit 34 IAGP HPO ORPHA:2524 NCBI chr19:54,189,441...54,194,532
Ensembl chr19:54,189,447...54,194,538 		JBrowse link
G TSEN54 tRNA splicing endonuclease subunit 54 IAGP HPO ORPHA:2524 NCBI chr17:75,516,528...75,524,735
Ensembl chr17:75,515,944...75,524,736 		JBrowse link
G TSFM Ts translation elongation factor, mitochondrial IAGP HPO PMID:17033963 MIM:610505 NCBI chr12:57,782,787...57,802,856
Ensembl chr12:57,782,731...57,808,071 		JBrowse link
G TTC12 tetratricopeptide repeat domain 12 IAGP HPO ORPHA:244 NCBI chr11:113,314,583...113,373,297
Ensembl chr11:113,314,579...113,383,544 		JBrowse link
G TUBA1A tubulin alpha 1a IAGP associated with Lissencephaly;DNA:missense mutations:cds: HPO
RGD		 PMID:17584854 PMID:18954413 MIM:611603 ORPHA:171680 ORPHA:467166, RGD:11067701 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,324 		JBrowse link
G TUBB2A tubulin beta 2A class IIa IAGP HPO PMID:24702957 MIM:615763 NCBI chr 6:3,153,666...3,157,544
Ensembl chr 6:3,153,497...3,157,544 		JBrowse link
G TUBB2B tubulin beta 2B class IIb IAGP HPO ORPHA:467166 NCBI chr 6:3,224,277...3,227,653
Ensembl chr 6:3,223,324...3,231,730 		JBrowse link
G TUBB3 tubulin beta 3 class III IAGP HPO ORPHA:467166 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761 		JBrowse link
G TYROBP transmembrane immune signaling adaptor TYROBP IAGP HPO ORPHA:2770 NCBI chr19:35,904,403...35,908,295
Ensembl chr19:35,904,401...35,908,301 		JBrowse link
G UBE2T ubiquitin conjugating enzyme E2 T IAGP HPO ORPHA:84 NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,328,714...202,341,984 		JBrowse link
G UBE3B ubiquitin protein ligase E3B IAGP HPO MIM:244450 NCBI chr12:109,477,634...109,547,829
Ensembl chr12:109,477,402...109,536,705 		JBrowse link
G UBE4B ubiquitination factor E4B IAGP HPO ORPHA:1606 NCBI chr 1:10,032,958...10,181,239
Ensembl chr 1:10,032,832...10,181,244 		JBrowse link
G UBTF upstream binding transcription factor IAGP HPO ORPHA:500180 NCBI chr17:44,205,040...44,221,304
Ensembl chr17:44,205,033...44,221,626 		JBrowse link
G UGDH UDP-glucose 6-dehydrogenase IAGP HPO PMID:32001716 MIM:618792 NCBI chr 4:39,498,755...39,527,439
Ensembl chr 4:39,498,755...39,528,311 		JBrowse link
G USP18 ubiquitin specific peptidase 18 IAGP HPO PMID:27325888 MIM:617397 NCBI chr22:18,150,170...18,177,397
Ensembl chr22:18,148,399...18,177,397 		JBrowse link
G USP7 ubiquitin specific peptidase 7 IAGP HPO ORPHA:500055 NCBI chr16:8,892,097...8,963,906
Ensembl chr16:8,892,097...8,975,328 		JBrowse link
G USP9X ubiquitin specific peptidase 9 X-linked IAGP HPO PMID:26833328 MIM:300968 ORPHA:480880 NCBI chr  X:41,085,445...41,236,579
Ensembl chr  X:41,085,431...41,236,579 		JBrowse link
G VPS11 VPS11 core subunit of CORVET and HOPS complexes IAGP HPO PMID:27120463 MIM:616683 ORPHA:466934 NCBI chr11:119,067,818...119,081,972
Ensembl chr11:119,067,789...119,082,753 		JBrowse link
G VPS35L VPS35 endosomal protein sorting factor like IAGP HPO ORPHA:7 NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793 		JBrowse link
G VPS37A VPS37A subunit of ESCRT-I IAGP HPO ORPHA:319199 NCBI chr 8:17,246,958...17,333,455
Ensembl chr 8:17,246,896...17,302,707 		JBrowse link
G VPS53 VPS53 subunit of GARP complex IAGP HPO PMID:30100179 MIM:615851 NCBI chr17:508,668...714,839
Ensembl chr17:508,503...721,717 		JBrowse link
G VSX1 visual system homeobox 1 IAGP HPO PMID:15051220 MIM:614195 NCBI chr20:25,070,880...25,082,141
Ensembl chr20:25,070,885...25,082,141 		JBrowse link
G WAC WW domain containing adaptor with coiled-coil IAGP HPO ORPHA:284169 ORPHA:466950 NCBI chr10:28,532,779...28,623,112
Ensembl chr10:28,532,493...28,623,112 		JBrowse link
G WARS1 tryptophanyl-tRNA synthetase 1 IAGP HPO ORPHA:2512 NCBI chr14:100,333,790...100,376,327
Ensembl chr14:100,333,784...100,376,805 		JBrowse link
G WARS2 tryptophanyl tRNA synthetase 2, mitochondrial IAGP HPO PMID:28650581 MIM:617710 ORPHA:572798 NCBI chr 1:119,031,216...119,140,672
Ensembl chr 1:119,030,284...119,140,673 		JBrowse link
G WASF1 WASP family member 1 IAGP HPO PMID:29961568 MIM:618707 NCBI chr 6:110,099,819...110,179,670
Ensembl chr 6:110,099,817...110,180,019 		JBrowse link
G WASHC5 WASH complex subunit 5 IAGP HPO ORPHA:7 NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819 		JBrowse link
G WBP4 WW domain binding protein 4 IAGP HPO PMID:37963460 MIM:620852 NCBI chr13:41,061,509...41,084,006
Ensembl chr13:41,061,509...41,084,006 		JBrowse link
G WDR26 WD repeat domain 26 IAGP HPO MIM:617616 ORPHA:513456 NCBI chr 1:224,385,146...224,434,797
Ensembl chr 1:224,385,146...224,437,033 		JBrowse link
G WDR35 WD repeat domain 35 IAGP HPO ORPHA:93271 NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,141 		JBrowse link
G WDR37 WD repeat domain 37 IAGP ClinVar Annotator: match by term: Ventriculomegaly ClinVar PMID:25741868 PMID:31327510 PMID:31474318 PMID:31491411 NCBI chr10:1,056,385...1,132,372
Ensembl chr10:1,049,265...1,160,991 		JBrowse link
G WDR45B WD repeat domain 45B IAGP HPO PMID:28503735 MIM:617977 NCBI chr17:82,614,562...82,648,444
Ensembl chr17:82,614,562...82,648,553 		JBrowse link
G WDR62 WD repeat domain 62 IAGP HPO ORPHA:2512 NCBI chr19:36,054,897...36,111,145
Ensembl chr19:36,054,649...36,105,108 		JBrowse link
G WDR73 WD repeat domain 73 IAGP HPO MIM:251300 NCBI chr15:84,639,285...84,654,283
Ensembl chr15:84,639,285...84,654,343 		JBrowse link
G WDR81 WD repeat domain 81 IAGP HPO PMID:28556411 MIM:617967 NCBI chr17:1,716,523...1,738,585
Ensembl chr17:1,716,523...1,738,599 		JBrowse link
G WDR83OS WD repeat domain 83 opposite strand IAGP HPO PMID:39471804 MIM:621016 NCBI chr19:12,668,073...12,669,415
Ensembl chr19:12,668,073...12,669,430 		JBrowse link
G WNT1 Wnt family member 1 IAGP HPO PMID:18834968 MIM:612394 NCBI chr12:48,978,322...48,982,620
Ensembl chr12:48,978,322...48,982,620 		JBrowse link
G WNT11 Wnt family member 11 IAGP HPO PMID:18834968 MIM:612394 NCBI chr11:76,186,325...76,210,761
Ensembl chr11:76,186,325...76,210,761 		JBrowse link
G XRCC2 X-ray repair cross complementing 2 IAGP HPO ORPHA:84 NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193 		JBrowse link
G XRCC4 X-ray repair cross complementing 4 IAGP HPO MIM:616541 NCBI chr 5:83,077,547...83,374,473
Ensembl chr 5:83,077,498...83,353,787 		JBrowse link
G XYLT1 xylosyltransferase 1 IAGP HPO PMID:18834968 MIM:612394 NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960 		JBrowse link
G XYLT2 xylosyltransferase 2 IAGP HPO PMID:18834968 MIM:612394 NCBI chr17:50,346,126...50,361,185
Ensembl chr17:50,346,080...50,363,138 		JBrowse link
G YARS1 tyrosyl-tRNA synthetase 1 IAGP HPO PMID:27633801 MIM:619418 NCBI chr 1:32,775,239...32,817,358
Ensembl chr 1:32,775,237...32,818,031 		JBrowse link
G YME1L1 YME1 like 1 ATPase IAGP HPO PMID:27495975 MIM:617302 NCBI chr10:27,110,111...27,154,384
Ensembl chr10:27,110,088...27,155,266 		JBrowse link
G YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon IAGP HPO ORPHA:217385 NCBI chr17:1,344,275...1,400,222
Ensembl chr17:1,344,275...1,400,255 		JBrowse link
G YY1 YY1 transcription factor IAGP HPO ORPHA:506358 NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788 		JBrowse link
G ZBTB11 zinc finger and BTB domain containing 11 IAGP HPO PMID:29893856 MIM:618383 NCBI chr 3:101,648,889...101,677,132
Ensembl chr 3:101,648,889...101,677,135 		JBrowse link
G ZBTB20 zinc finger and BTB domain containing 20 IAGP HPO PMID:32071410 MIM:259050 NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,356 		JBrowse link
G ZC4H2 zinc finger C4H2-type containing IAGP HPO PMID:31206972 MIM:301041 NCBI chr  X:64,915,807...65,034,741
Ensembl chr  X:64,915,802...65,034,713 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO MIM:235730 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
G ZIC2 Zic family member 2 IAGP HPO PMID:30855487 MIM:609637 NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765 		JBrowse link
G ZMIZ1 zinc finger MIZ-type containing 1 IAGP HPO PMID:30639322 MIM:618659 NCBI chr10:79,068,966...79,316,519
Ensembl chr10:79,068,929...79,316,550 		JBrowse link
G ZMYND10 zinc finger MYND-type containing 10 IAGP HPO ORPHA:244 NCBI chr 3:50,341,112...50,345,732
Ensembl chr 3:50,341,110...50,345,732 		JBrowse link
G ZNF148 zinc finger protein 148 IAGP HPO PMID:27964749 MIM:617260 NCBI chr 3:125,225,669...125,375,354
Ensembl chr 3:125,225,669...125,375,842 		JBrowse link
G ZNF292 zinc finger protein 292 IAGP HPO PMID:31723249 MIM:619188 NCBI chr 6:87,155,565...87,265,943
Ensembl chr 6:87,151,803...87,265,943 		JBrowse link
G ZNF335 zinc finger protein 335 IAGP HPO ORPHA:329228 NCBI chr20:45,948,660...45,972,203
Ensembl chr20:45,948,653...45,972,206 		JBrowse link
G ZNF462 zinc finger protein 462 IAGP HPO PMID:31361404 MIM:618619 NCBI chr 9:106,860,158...107,013,634
Ensembl chr 9:106,862,286...107,013,634 		JBrowse link
G ZNF699 zinc finger protein 699 IAGP HPO PMID:33875846 MIM:619488 NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838 		JBrowse link
G ZNHIT3 zinc finger HIT-type containing 3 IAGP HPO ORPHA:2836 NCBI chr17:36,486,681...36,499,312
Ensembl chr17:36,486,629...36,499,310 		JBrowse link
G ZSWIM6 zinc finger SWIM-type containing 6 IAGP HPO PMID:25105228 MIM:603671 ORPHA:1827 NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 94017
    Phenotypic abnormality 93606
      Abnormality of the nervous system 26513
        Abnormal nervous system morphology 10846
          Morphological central nervous system abnormality 10762
            Abnormal brain morphology 4393
              Abnormal cerebral ventricle morphology 1056
                Abnormal choroid plexus morphology + 22
                Abnormal fourth ventricle morphology + 168
                Abnormal lateral ventricle morphology + 133
                Abnormal third ventricle morphology + 16
                Aqueductal stenosis 28
                Cerebral ventricular adhesions 0
                Hydrocephalus + 461
                Lateral ventricular asymmetry 2
                Subependymal cysts 9
                Subependymal nodules 4
                Ventriculomegaly + 823
paths to the root