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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:Narrow forehead
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Accession:HP:0000341 term browser browse the term
Definition:Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective).
Comment:A reduced distance between the temporal regions (temples) on each side of the head to one another. Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow.
Synonyms:exact_synonym: Bitemporal narrowing;   Bitemporal narrowness;   Bitemporal skull narrowing;   Decreased width of the forehead;   Intertemporal narrowing;   Narrow bitemporal diameter;   Narrow bitemporal width;   Temporal narrowness
 alt_id: HP:0000314;   HP:0004674;   HP:0004677
 xref: UMLS:C1839758


show annotations for term's descendants           Sort by:
Narrow forehead 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 OMIM:617602 NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675 		JBrowse link
G ADAM22 ADAM metallopeptidase domain 22 IAGP HPO OMIM:617933 NCBI chr 7:87,934,251...88,202,889
Ensembl chr 7:87,934,143...88,202,889 		JBrowse link
G AFF4 ALF transcription elongation factor 4 IAGP HPO ORPHA:444077 NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634 		JBrowse link
G AFG2B AFG2 AAA ATPase homolog B IAGP HPO OMIM:619616 NCBI chr15:45,402,336...45,421,415
Ensembl chr15:45,402,336...45,421,415 		JBrowse link
G AMER1 APC membrane recruitment protein 1 IAGP HPO OMIM:300373 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708 		JBrowse link
G AMPD2 adenosine monophosphate deaminase 2 IAGP HPO OMIM:615809 NCBI chr 1:109,619,837...109,632,055
Ensembl chr 1:109,616,104...109,632,051 		JBrowse link
G AP4B1 adaptor related protein complex 4 subunit beta 1 IAGP HPO OMIM:614066 ORPHA:280763 NCBI chr 1:113,894,194...113,905,028
Ensembl chr 1:113,894,194...113,905,712 		JBrowse link
G AP4E1 adaptor related protein complex 4 subunit epsilon 1 IAGP HPO OMIM:613744 ORPHA:280763 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 OMIM:612936 ORPHA:280763 NCBI chr 7:100,100,794...100,109,039
Ensembl chr 7:100,100,858...100,110,345 		JBrowse link
G AP4S1 adaptor related protein complex 4 subunit sigma 1 IAGP HPO ORPHA:280763 NCBI chr14:31,025,106...31,096,450
Ensembl chr14:31,025,106...31,130,996 		JBrowse link
G ASPM assembly factor for spindle microtubules IAGP HPO OMIM:608716 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 OMIM:605039 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G ATN1 atrophin 1 IAGP HPO OMIM:618494 NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321 		JBrowse link
G ATP6AP2 ATPase H+ transporting accessory protein 2 IAGP HPO OMIM:300423 NCBI chr  X:40,580,970...40,606,848
Ensembl chr  X:40,579,372...40,606,848 		JBrowse link
G ATRX ATRX chromatin remodeler IAGP HPO OMIM:309580 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G AXIN1 axin 1 IAGP HPO OMIM:620558 NCBI chr16:287,440...352,723
Ensembl chr16:287,440...352,723 		JBrowse link
G BBIP1 BBSome interacting protein 1 IAGP ClinVar Annotator: match by term: Decreased width of the forehead ClinVar NCBI chr10:110,898,730...110,919,366
Ensembl chr10:110,898,730...110,919,201 		JBrowse link
G BICRA BRD4 interacting chromatin remodeling complex associated protein IAGP HPO OMIM:619325 NCBI chr19:47,608,196...47,703,277
Ensembl chr19:47,608,196...47,703,277 		JBrowse link
G BMP2 bone morphogenetic protein 2 IAGP HPO OMIM:617877 NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO OMIM:115150 OMIM:613706 OMIM:613707 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 IAGP HPO OMIM:620149 NCBI chr 7:81,946,444...82,443,956
Ensembl chr 7:81,946,444...82,443,956 		JBrowse link
G CAMK2B calcium/calmodulin dependent protein kinase II beta IAGP HPO OMIM:617799 NCBI chr 7:44,217,154...44,326,013
Ensembl chr 7:44,210,019...44,334,577 		JBrowse link
G CAMK2G calcium/calmodulin dependent protein kinase II gamma IAGP HPO OMIM:618522 NCBI chr10:73,812,501...73,874,555
Ensembl chr10:73,812,501...73,874,591 		JBrowse link
G CARS1 cysteinyl-tRNA synthetase 1 IAGP HPO OMIM:618891 NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613 		JBrowse link
G CCDC47 coiled-coil domain containing 47 IAGP HPO OMIM:618268 NCBI chr17:63,745,255...63,773,597
Ensembl chr17:63,745,255...63,776,351 		JBrowse link
G CCDC88A coiled-coil domain containing 88A IAGP HPO OMIM:617507 NCBI chr 2:55,287,842...55,419,856
Ensembl chr 2:55,287,842...55,419,895 		JBrowse link
G CDC42 cell division cycle 42 IAGP HPO OMIM:616737 ORPHA:487796 NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360 		JBrowse link
G CDH11 cadherin 11 IAGP HPO OMIM:211380 NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112 		JBrowse link
G CDKL5 cyclin dependent kinase like 5 IAGP HPO ORPHA:505652 NCBI chr  X:18,425,608...18,653,629
Ensembl chr  X:18,425,583...18,653,629 		JBrowse link
G CLP1 cleavage factor polyribonucleotide kinase subunit 1 IAGP HPO OMIM:615803 NCBI chr11:57,657,762...57,661,865
Ensembl chr11:57,648,188...57,661,865 		JBrowse link
G COG7 component of oligomeric golgi complex 7 IAGP HPO OMIM:608779 NCBI chr16:23,388,493...23,453,189
Ensembl chr16:23,388,493...23,453,189 		JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain IAGP HPO OMIM:267750 NCBI chr21:45,405,165...45,513,720
Ensembl chr21:45,405,165...45,513,720 		JBrowse link
G CTCF CCCTC-binding factor IAGP HPO ORPHA:363611 NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177 		JBrowse link
G CTU2 cytosolic thiouridylase subunit 2 IAGP HPO OMIM:618142 NCBI chr16:88,706,503...88,715,396
Ensembl chr16:88,706,483...88,715,396 		JBrowse link
G DCHS1 dachsous cadherin-related 1 IAGP HPO OMIM:601390 NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809 		JBrowse link
G DDX11 DEAD/H-box helicase 11 IAGP HPO OMIM:613398 NCBI chr12:31,073,860...31,104,799
Ensembl chr12:31,073,860...31,104,799 		JBrowse link
G DDX6 DEAD-box helicase 6 IAGP HPO OMIM:618653 NCBI chr11:118,747,763...118,791,744
Ensembl chr11:118,747,763...118,791,164 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP HPO OMIM:270400 NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868 		JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP HPO ORPHA:254528 NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224 		JBrowse link
G DNM1 dynamin 1 IAGP HPO OMIM:620352 NCBI chr 9:128,203,379...128,255,244
Ensembl chr 9:128,191,655...128,255,248 		JBrowse link
G DOCK7 dedicator of cytokinesis 7 IAGP HPO OMIM:615859 ORPHA:411986 NCBI chr 1:62,454,726...62,688,386
Ensembl chr 1:62,454,298...62,688,386 		JBrowse link
G DPH5 diphthamide biosynthesis 5 IAGP HPO OMIM:620070 NCBI chr 1:100,989,623...101,025,784
Ensembl chr 1:100,989,623...101,026,088 		JBrowse link
G DTYMK deoxythymidylate kinase IAGP HPO OMIM:619847 NCBI chr 2:241,675,747...241,686,815
Ensembl chr 2:241,675,747...241,686,944 		JBrowse link
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A IAGP HPO OMIM:614104 ORPHA:464311 NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358 		JBrowse link
G ELN elastin IAGP HPO OMIM:194050 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G EPG5 ectopic P-granules 5 autophagy tethering factor IAGP HPO OMIM:242840 NCBI chr18:45,800,581...45,967,329
Ensembl chr18:45,800,581...45,967,329 		JBrowse link
G ERI1 exoribonuclease 1 IAGP HPO OMIM:620662 OMIM:620663 NCBI chr 8:9,002,897...9,100,104
Ensembl chr 8:9,002,147...9,116,746 		JBrowse link
G ESAM endothelial cell adhesion molecule IAGP HPO OMIM:620371 NCBI chr11:124,753,126...124,762,290
Ensembl chr11:124,752,583...124,762,290 		JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP HPO OMIM:615546 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP ClinVar Annotator: match by term: Narrow forehead 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 FRA10AC1 FRA10A associated CGG repeat 1 IAGP HPO OMIM:620113 NCBI chr10:93,667,883...93,702,959
Ensembl chr10:93,667,883...93,702,592 		JBrowse link
G FRMD4A FERM domain containing 4A IAGP HPO OMIM:616819 ORPHA:466688 NCBI chr10:13,643,706...14,330,924
Ensembl chr10:13,643,706...14,462,142 		JBrowse link
G FUT8 fucosyltransferase 8 IAGP HPO OMIM:618005 NCBI chr14:65,356,842...65,744,121
Ensembl chr14:65,410,592...65,744,121 		JBrowse link
G GET4 guided entry of tail-anchored proteins factor 4 IAGP HPO OMIM:620200 NCBI chr 7:876,554...896,436
Ensembl chr 7:876,554...896,436 		JBrowse link
G GNB2 G protein subunit beta 2 IAGP HPO OMIM:619503 NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174 		JBrowse link
G GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta IAGP HPO OMIM:252500 NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959 		JBrowse link
G GOLGA2 golgin A2 IAGP HPO OMIM:620240 NCBI chr 9:128,255,829...128,276,007
Ensembl chr 9:128,255,829...128,276,026 		JBrowse link
G GON7 GON7 subunit of KEOPS complex IAGP HPO OMIM:619603 NCBI chr14:93,202,894...93,207,065
Ensembl chr14:93,202,894...93,207,065 		JBrowse link
G GPAA1 glycosylphosphatidylinositol anchor attachment 1 IAGP HPO OMIM:617810 ORPHA:529665 NCBI chr 8:144,082,634...144,086,216
Ensembl chr 8:144,082,337...144,093,149 		JBrowse link
G GPT2 glutamic--pyruvic transaminase 2 IAGP HPO OMIM:616281 ORPHA:477673 NCBI chr16:46,884,362...46,931,289
Ensembl chr16:46,884,362...46,931,289 		JBrowse link
G GTPBP2 GTP binding protein 2 IAGP HPO OMIM:617988 NCBI chr 6:43,620,494...43,631,333
Ensembl chr 6:43,605,316...43,629,264 		JBrowse link
G H3-3A H3.3 histone A IAGP HPO OMIM:619720 NCBI chr 1:226,061,831...226,072,019
Ensembl chr 1:226,061,851...226,072,019 		JBrowse link
G H4C9 H4 clustered histone 9 IAGP HPO OMIM:619951 NCBI chr 6:27,139,282...27,139,678
Ensembl chr 6:27,139,282...27,139,678 		JBrowse link
G HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 IAGP HPO OMIM:176270 NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179 		JBrowse link
G HNRNPK heterogeneous nuclear ribonucleoprotein K IAGP HPO OMIM:616580 NCBI chr 9:83,968,083...83,980,615
Ensembl chr 9:83,968,083...83,980,631 		JBrowse link
G HS2ST1 heparan sulfate 2-O-sulfotransferase 1 IAGP HPO OMIM:619194 NCBI chr 1:86,914,635...87,109,982
Ensembl chr 1:86,914,635...87,109,982 		JBrowse link
G HS6ST2 heparan sulfate 6-O-sulfotransferase 2 IAGP HPO OMIM:301025 NCBI chr  X:132,626,015...132,961,370
Ensembl chr  X:132,626,015...132,961,395 		JBrowse link
G IER3IP1 immediate early response 3 interacting protein 1 IAGP HPO OMIM:614231 NCBI chr18:47,152,834...47,176,364
Ensembl chr18:47,152,834...47,176,364 		JBrowse link
G IFT140 intraflagellar transport 140 IAGP HPO OMIM:266920 NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072 		JBrowse link
G IPW imprinted in Prader-Willi syndrome IAGP HPO OMIM:176270 NCBI chr15:25,116,545...25,122,476 JBrowse link
G KAT6A lysine acetyltransferase 6A IAGP HPO OMIM:616268 ORPHA:457193 NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994 		JBrowse link
G KATNB1 katanin regulatory subunit B1 IAGP HPO ORPHA:89844 NCBI chr16:57,735,770...57,757,244
Ensembl chr16:57,735,739...57,757,244 		JBrowse link
G KCNK4 potassium two pore domain channel subfamily K member 4 IAGP HPO OMIM:618381 NCBI chr11:64,291,302...64,300,031
Ensembl chr11:64,291,302...64,300,031 		JBrowse link
G KCNK9 potassium two pore domain channel subfamily K member 9 IAGP HPO OMIM:612292 ORPHA:166108 NCBI chr 8:139,600,838...139,703,123
Ensembl chr 8:139,600,838...139,704,109 		JBrowse link
G KDM4B lysine demethylase 4B IAGP HPO OMIM:619320 NCBI chr19:4,969,113...5,153,598
Ensembl chr19:4,969,113...5,153,598 		JBrowse link
G KIF26A kinesin family member 26A IAGP HPO OMIM:620156 NCBI chr14:104,138,587...104,180,894
Ensembl chr14:104,136,454...104,180,894 		JBrowse link
G LAGE3 L antigen family member 3 IAGP HPO OMIM:301006 NCBI chr  X:154,477,775...154,479,281
Ensembl chr  X:154,477,775...154,479,281 		JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP HPO OMIM:620089 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156 		JBrowse link
G LGI4 leucine rich repeat LGI family member 4 IAGP HPO OMIM:617468 NCBI chr19:35,124,513...35,135,059
Ensembl chr19:35,124,513...35,142,451 		JBrowse link
G LIG4 DNA ligase 4 IAGP HPO OMIM:606593 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368 		JBrowse link
G LMNB1 lamin B1 IAGP HPO OMIM:619179 NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 IAGP HPO OMIM:616564 NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032 		JBrowse link
G MAD1L1 mitotic arrest deficient 1 like 1 IAGP HPO OMIM:620189 NCBI chr 7:1,815,795...2,232,945
Ensembl chr 7:1,815,793...2,233,243 		JBrowse link
G MADD MAP kinase activating death domain IAGP HPO OMIM:619004 NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031 		JBrowse link
G MAGEL2 MAGE family member L2 IAGP HPO OMIM:176270 OMIM:615547 NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867 		JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 IAGP HPO OMIM:615280 NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 IAGP HPO OMIM:619087 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680 		JBrowse link
G MAPKAPK5 MAPK activated protein kinase 5 IAGP HPO OMIM:619869 NCBI chr12:111,842,228...111,902,222
Ensembl chr12:111,842,013...111,902,222 		JBrowse link
G MED13L mediator complex subunit 13L IAGP HPO OMIM:616789 ORPHA:369891 NCBI chr12:115,958,576...116,277,693
Ensembl chr12:115,957,905...116,277,693 		JBrowse link
G MEG3 maternally expressed 3 IAGP HPO ORPHA:254528 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031 		JBrowse link
G MEIS2 Meis homeobox 2 IAGP HPO OMIM:600987 ORPHA:261190 NCBI chr15:36,889,204...37,101,311
Ensembl chr15:36,889,204...37,101,299 		JBrowse link
G MKRN3 makorin ring finger protein 3 IAGP HPO OMIM: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 OMIM:176270
G MLXIPL MLX interacting protein like IAGP HPO OMIM:194050 NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543 		JBrowse link
G MN1 MN1 proto-oncogene, transcriptional regulator IAGP HPO OMIM:618774 NCBI chr22:27,748,277...27,801,756
Ensembl chr22:27,748,277...27,801,756 		JBrowse link
G MTSS2 MTSS I-BAR domain containing 2 IAGP HPO OMIM:620086 NCBI chr16:70,661,204...70,686,053
Ensembl chr16:70,661,204...70,686,053 		JBrowse link
G MYO18B myosin XVIIIB IAGP HPO OMIM:616549 NCBI chr22:25,742,188...26,063,847
Ensembl chr22:25,742,144...26,031,045 		JBrowse link
G MYOD1 myogenic differentiation 1 IAGP HPO OMIM:618975 NCBI chr11:17,719,571...17,722,136
Ensembl chr11:17,719,571...17,722,136 		JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP HPO ORPHA:276432 NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080 		JBrowse link
G NAA20 N-alpha-acetyltransferase 20, NatB catalytic subunit IAGP HPO OMIM:619717 NCBI chr20:20,017,290...20,033,655
Ensembl chr20:20,017,310...20,033,655 		JBrowse link
G NBAS NBAS subunit of NRZ tethering complex IAGP HPO OMIM:614800 NCBI chr 2:14,778,909...15,561,334
Ensembl chr 2:15,166,916...15,561,340 		JBrowse link
G NDE1 nudE neurodevelopment protein 1 IAGP HPO ORPHA:89844 NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691 		JBrowse link
G NEXMIF neurite extension and migration factor IAGP HPO OMIM:300912 NCBI chr  X:74,732,856...74,925,452
Ensembl chr  X:74,732,856...74,925,472 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO ORPHA:363700 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G NPAP1 nuclear pore associated protein 1 IAGP HPO OMIM:176270 NCBI chr15:24,675,775...24,683,393
Ensembl chr15:24,675,775...24,683,393 		JBrowse link
G NRCAM neuronal cell adhesion molecule IAGP HPO OMIM:619833 NCBI chr 7:108,147,649...108,456,720
Ensembl chr 7:108,147,623...108,456,717 		JBrowse link
G NUP107 nucleoporin 107 IAGP HPO OMIM:616730 OMIM:618348 NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809 		JBrowse link
G NUP133 nucleoporin 133 IAGP HPO OMIM:618349 NCBI chr 1:229,440,259...229,508,341
Ensembl chr 1:229,440,259...229,508,341 		JBrowse link
G NUP188 nucleoporin 188 IAGP HPO OMIM:618804 NCBI chr 9:128,947,699...129,007,096
Ensembl chr 9:128,947,699...129,007,096 		JBrowse link
G OSGEP O-sialoglycoprotein endopeptidase IAGP HPO OMIM:617729 NCBI chr14:20,446,401...20,454,812
Ensembl chr14:20,446,401...20,455,089 		JBrowse link
G PIGB phosphatidylinositol glycan anchor biosynthesis class B IAGP HPO OMIM: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 OMIM:614080 NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118 		JBrowse link
G PIGT phosphatidylinositol glycan anchor biosynthesis class T IAGP HPO OMIM:615398 ORPHA:369837 NCBI chr20:45,416,141...45,426,241
Ensembl chr20:45,416,084...45,456,934 		JBrowse link
G PIGU phosphatidylinositol glycan anchor biosynthesis class U IAGP HPO OMIM:618590 NCBI chr20:34,560,542...34,677,092
Ensembl chr20:34,560,542...34,698,790 		JBrowse link
G PIGY phosphatidylinositol glycan anchor biosynthesis class Y IAGP HPO OMIM:616809 NCBI chr 4:88,520,998...88,523,776
Ensembl chr 4:88,520,998...88,523,776 		JBrowse link
G PLCB4 phospholipase C beta 4 IAGP HPO OMIM:620458 NCBI chr20:9,068,678...9,480,808
Ensembl chr20:9,067,825...9,504,593 		JBrowse link
G PPP1CB protein phosphatase 1 catalytic subunit beta IAGP HPO OMIM:617506 NCBI chr 2:28,751,604...28,802,940
Ensembl chr 2:28,751,640...28,802,940 		JBrowse link
G PPP1R15B protein phosphatase 1 regulatory subunit 15B IAGP HPO ORPHA:391408 NCBI chr 1:204,395,826...204,411,817
Ensembl chr 1:204,396,492...204,411,887 		JBrowse link
G PPP1R21 protein phosphatase 1 regulatory subunit 21 IAGP HPO OMIM:619383 NCBI chr 2:48,440,766...48,515,386
Ensembl chr 2:48,440,598...48,515,391 		JBrowse link
G PPP2R3C protein phosphatase 2 regulatory subunit B''gamma IAGP HPO OMIM:618419 NCBI chr14:35,085,472...35,122,298
Ensembl chr14:35,085,467...35,122,517 		JBrowse link
G PPP2R5D protein phosphatase 2 regulatory subunit B'delta IAGP HPO OMIM:616355 NCBI chr 6:42,984,570...43,012,342
Ensembl chr 6:42,984,553...43,012,342 		JBrowse link
G PRKAR1B protein kinase cAMP-dependent type I regulatory subunit beta IAGP HPO OMIM:619680 NCBI chr 7:549,197...728,934
Ensembl chr 7:549,197...727,650 		JBrowse link
G PSPH phosphoserine phosphatase IAGP HPO ORPHA:79350 NCBI chr 7:56,011,064...56,051,444
Ensembl chr 7:56,011,051...56,051,604 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP HPO OMIM:615583 ORPHA:508488 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709 		JBrowse link
G PUM1 pumilio RNA binding family member 1 IAGP HPO OMIM:617931 NCBI chr 1:30,931,506...31,065,717
Ensembl chr 1:30,931,506...31,065,991 		JBrowse link
G PURA purine rich element binding protein A IAGP HPO ORPHA:314655 NCBI chr 5:140,114,109...140,125,619
Ensembl chr 5:140,107,777...140,125,619 		JBrowse link
G PWAR1 Prader Willi/Angelman region RNA 1 IAGP HPO OMIM: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 OMIM: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 OMIM:616420 ORPHA:481152 NCBI chr 1:225,919,878...225,924,250
Ensembl chr 1:225,919,877...225,924,340 		JBrowse link
G QARS1 glutaminyl-tRNA synthetase 1 IAGP HPO OMIM:615760 NCBI chr 3:49,095,932...49,104,757
Ensembl chr 3:49,095,932...49,105,130 		JBrowse link
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 IAGP HPO OMIM:600118 NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,289...135,176,667 		JBrowse link
G RARS2 arginyl-tRNA synthetase 2, mitochondrial IAGP HPO OMIM:611523 NCBI chr 6:87,513,938...87,589,987
Ensembl chr 6:87,513,459...87,590,028 		JBrowse link
G RBBP8 RB binding protein 8, endonuclease IAGP HPO OMIM:606744 NCBI chr18:22,914,139...23,026,486
Ensembl chr18:22,798,261...23,026,488 		JBrowse link
G RELN reelin IAGP HPO ORPHA:89844 NCBI chr 7:103,471,789...103,989,658
Ensembl chr 7:103,471,381...103,989,658 		JBrowse link
G RNF13 ring finger protein 13 IAGP HPO OMIM:618379 ORPHA:544503 NCBI chr 3:149,812,688...149,962,139
Ensembl chr 3:149,812,770...149,962,139 		JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP HPO ORPHA:254528 NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP HPO ORPHA:324581 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G SC5D sterol-C5-desaturase IAGP HPO OMIM:607330 ORPHA:46059 NCBI chr11:121,292,771...121,313,410
Ensembl chr11:121,292,681...121,313,410 		JBrowse link
G SERPINH1 serpin family H member 1 IAGP HPO OMIM:613848 NCBI chr11:75,562,253...75,572,783
Ensembl chr11:75,562,056...75,572,783 		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 SHOC2 SHOC2 leucine rich repeat scaffold protein IAGP HPO OMIM:607721 NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,919,367...111,017,307 		JBrowse link
G SIM1 SIM bHLH transcription factor 1 IAGP HPO ORPHA:171829 NCBI chr 6:100,385,009...100,464,921
Ensembl chr 6:100,385,009...100,464,921 		JBrowse link
G SLC12A2 solute carrier family 12 member 2 IAGP HPO OMIM:619080 NCBI chr 5:128,083,766...128,189,677
Ensembl chr 5:128,083,766...128,189,677 		JBrowse link
G SLC12A6 solute carrier family 12 member 6 IAGP HPO OMIM:218000 NCBI chr15:34,229,784...34,338,057
Ensembl chr15:34,229,784...34,338,060 		JBrowse link
G SLC16A2 solute carrier family 16 member 2 IAGP HPO OMIM:300523 NCBI chr  X:74,421,493...74,533,916
Ensembl chr  X:74,421,493...74,533,917 		JBrowse link
G SLC25A46 solute carrier family 25 member 46 IAGP HPO OMIM:616505 NCBI chr 5:110,738,145...110,765,157
Ensembl chr 5:110,738,136...110,765,161 		JBrowse link
G SMARCD1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 IAGP HPO OMIM:618779 NCBI chr12:50,085,342...50,100,707
Ensembl chr12:50,085,200...50,100,707 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO OMIM:300590 OMIM:301044 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G SMG9 SMG9 nonsense mediated mRNA decay factor IAGP HPO OMIM:616920 NCBI chr19:43,727,983...43,754,962
Ensembl chr19:43,727,983...43,754,962 		JBrowse link
G SMPD4 sphingomyelin phosphodiesterase 4 IAGP HPO OMIM:618622 NCBI chr 2:130,151,392...130,181,757
Ensembl chr 2:130,151,392...130,182,750 		JBrowse link
G SNORD115-1 small nucleolar RNA, C/D box 115-1 IAGP HPO OMIM: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 OMIM: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: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 OMIM:617140 ORPHA:500150 NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481 		JBrowse link
G SOX6 SRY-box transcription factor 6 IAGP HPO OMIM:618971 NCBI chr11:15,966,449...16,738,477
Ensembl chr11:15,966,449...16,739,591 		JBrowse link
G SPEN spen family transcriptional repressor IAGP HPO OMIM:619312 NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456 		JBrowse link
G SPOP speckle type BTB/POZ protein IAGP HPO OMIM:618828 NCBI chr17:49,598,884...49,678,163
Ensembl chr17:49,598,884...49,678,163 		JBrowse link
G SPRED2 sprouty related EVH1 domain containing 2 IAGP HPO OMIM:619745 NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637 		JBrowse link
G SPTBN1 spectrin beta, non-erythrocytic 1 IAGP HPO OMIM:619475 NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446 		JBrowse link
G SUOX sulfite oxidase IAGP HPO OMIM:272300 NCBI chr12:55,997,276...56,005,525
Ensembl chr12:55,997,180...56,006,641 		JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP HPO OMIM:220500 NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560 		JBrowse link
G TBCD tubulin folding cofactor D IAGP HPO OMIM:617193 NCBI chr17:82,752,065...82,945,914
Ensembl chr17:82,752,042...82,945,914 		JBrowse link
G TBCK TBC1 domain containing kinase IAGP HPO OMIM:616900 NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683 		JBrowse link
G TCF4 transcription factor 4 IAGP HPO OMIM:610954 ORPHA:2896 NCBI chr18:55,222,185...55,635,957
Ensembl chr18:55,222,185...55,664,787 		JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 IAGP HPO OMIM:213980 NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755 		JBrowse link
G TNPO2 transportin 2 IAGP HPO OMIM:619556 NCBI chr19:12,699,201...12,723,932
Ensembl chr19:12,699,201...12,724,011 		JBrowse link
G TRAPPC4 trafficking protein particle complex subunit 4 IAGP HPO OMIM:618741 NCBI chr11:119,018,766...119,024,134
Ensembl chr11:119,018,763...119,025,454 		JBrowse link
G TRAPPC9 trafficking protein particle complex subunit 9 IAGP HPO ORPHA:352530 NCBI chr 8:139,727,725...140,458,579
Ensembl chr 8:139,727,725...140,458,579 		JBrowse link
G TRMT10A tRNA methyltransferase 10A IAGP HPO ORPHA:391408 NCBI chr 4:99,546,711...99,564,039
Ensembl chr 4:99,546,709...99,564,039 		JBrowse link
G TSPEAR thrombospondin type laminin G domain and EAR repeats IAGP HPO OMIM:620173 NCBI chr21:44,497,893...44,711,572
Ensembl chr21:44,497,893...44,711,572 		JBrowse link
G TUBGCP2 tubulin gamma complex component 2 IAGP HPO OMIM:618737 NCBI chr10:133,278,635...133,312,337
Ensembl chr10:133,278,635...133,318,823 		JBrowse link
G UGP2 UDP-glucose pyrophosphorylase 2 IAGP HPO OMIM:618744 NCBI chr 2:63,840,969...63,891,560
Ensembl chr 2:63,840,952...63,891,562 		JBrowse link
G USP9X ubiquitin specific peptidase 9 X-linked IAGP HPO OMIM:300968 ORPHA:480880 NCBI chr  X:41,085,445...41,236,579
Ensembl chr  X:41,085,445...41,236,579 		JBrowse link
G VPS53 VPS53 subunit of GARP complex IAGP HPO OMIM:615851 NCBI chr17:508,668...714,839
Ensembl chr17:508,503...721,717 		JBrowse link
G WDR35 WD repeat domain 35 IAGP HPO OMIM:613610 NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105 		JBrowse link
G WWOX WW domain containing oxidoreductase IAGP HPO OMIM:616211 NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667 		JBrowse link
G ZIC2 Zic family member 2 IAGP HPO OMIM:609637 NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765 		JBrowse link
G ZNF148 zinc finger protein 148 IAGP HPO OMIM:617260 NCBI chr 3:125,225,669...125,375,354
Ensembl chr 3:125,225,669...125,375,325 		JBrowse link
G ZNHIT3 zinc finger HIT-type containing 3 IAGP HPO OMIM:260565 NCBI chr17:36,486,681...36,499,312
Ensembl chr17:36,486,629...36,499,310 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21570
    Phenotypic abnormality 21560
      Abnormality of head or neck 3585
        Abnormality of the head 3556
          Abnormality of the face 3146
            Abnormality of the forehead 1200
              Narrow forehead 179
paths to the root