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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:Aplasia/Hypoplasia of the brainstem
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Accession:HP:0007362 term browser browse the term
Synonyms:exact_synonym: Absent/small brainstem;   Absent/underdeveloped brainstem
 xref: UMLS:C4024904


show annotations for term's descendants           Sort by:
Hypoplasia of the brainstem term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCY5 adenylate cyclase 5 IAGP HPO PMID:33704598 MIM:619651 NCBI chr 3:123,282,296...123,449,090
Ensembl chr 3:123,282,296...123,449,090 		JBrowse link
G ADGRG1 adhesion G protein-coupled receptor G1 IAGP HPO MIM:606854 ORPHA:101070 NCBI chr16:57,619,738...57,665,567
Ensembl chr16:57,610,652...57,665,580 		JBrowse link
G APC2 APC regulator of WNT signaling pathway 2 IAGP HPO PMID:31585108 MIM:618677 NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244 		JBrowse link
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 ASXL1 ASXL transcriptional regulator 1 IAGP HPO MIM:605039 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 IAGP HPO PMID:23453667 MIM:615181 NCBI chr 1:235,439,796...235,504,452
Ensembl chr 1:235,447,190...235,504,452 		JBrowse link
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...66,347,629 		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 BRF1 BRF1 general transcription factor IIIB subunit IAGP HPO ORPHA:444072 NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589 		JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase IAGP HPO PMID:19165920 MIM:300749 NCBI chr  X:41,514,934...41,923,554
Ensembl chr  X:41,514,934...41,923,554 		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 CEP55 centrosomal protein 55 IAGP HPO PMID:28264986 MIM:236500 NCBI chr10:93,496,612...93,529,092
Ensembl chr10:93,496,612...93,529,092 		JBrowse link
G CHMP1A charged multivesicular body protein 1A IAGP HPO PMID:23023333 MIM:614961 NCBI chr16:89,644,435...89,657,708
Ensembl chr16:89,640,816...89,657,738 		JBrowse link
G CIT citron rho-interacting serine/threonine kinase IAGP HPO PMID:27453578 MIM:617090 NCBI chr12:119,685,791...119,877,320
Ensembl chr12:119,685,791...119,877,320 		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 COL3A1 collagen type III alpha 1 chain IAGP HPO MIM:618343 NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP HPO PMID:22522420 MIM:614643 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504 		JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO MIM:615636 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778 		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 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 IAGP HPO PMID:23603762 MIM:614563 NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443 		JBrowse link
G DYNC1I2 dynein cytoplasmic 1 intermediate chain 2 IAGP HPO MIM:618492 NCBI chr 2:171,687,469...171,750,158
Ensembl chr 2:171,687,409...171,750,158 		JBrowse link
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A IAGP HPO ORPHA:268261 NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358 		JBrowse link
G EN1 engrailed homeobox 1 IAGP HPO PMID:33568816 MIM:619218 NCBI chr 2:118,842,171...118,847,648
Ensembl chr 2:118,842,171...118,847,648 		JBrowse link
G EXOC2 exocyst complex component 2 IAGP HPO PMID:32639540 MIM:619306 NCBI chr 6:485,154...693,139
Ensembl chr 6:485,154...693,139 		JBrowse link
G EXOC7 exocyst complex component 7 IAGP HPO PMID:32103185 MIM:619072 NCBI chr17:76,081,016...76,103,787
Ensembl chr17:76,081,016...76,121,576 		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 FKRP fukutin related protein IAGP HPO PMID:15037715 PMID:15121789 MIM:236670 MIM:613153 ORPHA:370959 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FKTN fukutin IAGP HPO PMID:15037715 MIM:236670 MIM:253800 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 PMID:20206334 MIM:225790 NCBI chr14:75,578,620...75,648,167
Ensembl chr14:75,578,620...75,663,214 		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...49,723,973 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP HPO MIM:213300 NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845 		JBrowse link
G KIAA0586 KIAA0586 IAGP HPO PMID:26166481 MIM:616546 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G KIFBP kinesin family binding protein IAGP HPO MIM:609460 NCBI chr10:68,988,803...69,016,982
Ensembl chr10:68,988,803...69,043,544 		JBrowse link
G KPNA3 karyopherin subunit alpha 3 IAGP HPO PMID:34564892 MIM:620106 NCBI chr13:49,699,320...49,792,682
Ensembl chr13:49,699,320...49,792,682 		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 7:107,923,799...108,003,213 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO PMID:15037715 MIM:236670 MIM:608840 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G MACF1 microtubule actin crosslinking factor 1 IAGP HPO PMID:30471716 MIM:618325 NCBI chr 1:39,084,167...39,487,138
Ensembl chr 1:39,081,316...39,487,177 		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 MED17 mediator complex subunit 17 IAGP HPO PMID:20950787 MIM:613668 NCBI chr11:93,784,282...93,814,963
Ensembl chr11:93,784,227...93,814,963 		JBrowse link
G MFSD2A MFSD2 lysolipid transporter A, lysophospholipid IAGP HPO MIM:616486 NCBI chr 1:39,955,145...39,969,956
Ensembl chr 1:39,955,112...39,969,968 		JBrowse link
G MINPP1 multiple inositol-polyphosphate phosphatase 1 IAGP HPO ORPHA:284339 NCBI chr10:87,504,893...87,553,461
Ensembl chr10:87,504,875...87,553,461 		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 MYH3 myosin heavy chain 3 IAGP HPO MIM:193700 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G MYMK myomaker, myoblast fusion factor IAGP HPO MIM:254940 NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612 		JBrowse link
G NDE1 nudE neurodevelopment protein 1 IAGP HPO PMID:22526350 MIM:605013 NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691 		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 NSRP1 nuclear speckle splicing regulatory protein 1 IAGP HPO PMID:34385670 MIM:620001 NCBI chr17:30,116,816...30,186,475
Ensembl chr17:30,115,521...30,186,475 		JBrowse link
G PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 IAGP HPO MIM:607432 NCBI chr17:2,593,183...2,685,615
Ensembl chr17:2,593,183...2,685,615 		JBrowse link
G PCLO piccolo presynaptic cytomatrix protein IAGP HPO MIM:608027 NCBI chr 7:82,754,012...83,162,884
Ensembl chr 7:82,754,012...83,162,930 		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...58,433,857 		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...97,676,434 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO MIM:248700 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G POGZ pogo transposable element derived with ZNF domain IAGP HPO PMID:28480548 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 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP HPO MIM:253280 ORPHA:370959 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305 		JBrowse link
G POMK protein O-mannose kinase IAGP HPO MIM:615249 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 PMID:15037715 PMID:16575835 MIM:236670 MIM:613155 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 PMID:15037715 MIM:236670 MIM:613150 ORPHA:370959 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		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 6:36,854,827...36,874,803 		JBrowse link
G PPP1R15B protein phosphatase 1 regulatory subunit 15B IAGP HPO MIM:616817 ORPHA:391408 NCBI chr 1:204,395,826...204,411,817
Ensembl chr 1:204,396,492...204,411,887 		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...134,226,073 		JBrowse link
G PRDM13 PR/SET domain 13 IAGP HPO PMID:35390279 MIM:619909 NCBI chr 6:99,606,833...99,615,562
Ensembl chr 6:99,606,774...99,615,578 		JBrowse link
G PTCH1 patched 1 IAGP HPO PMID:17001668 MIM:610828 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:101070 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 IAGP HPO PMID:25865492 MIM:616420 ORPHA:481152 NCBI chr 1:225,919,878...225,924,250
Ensembl chr 1:225,919,877...225,924,340 		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...8,404,434 		JBrowse link
G RAC1 Rac family small GTPase 1 IAGP HPO PMID:28886345 MIM:617751 ORPHA:500159 NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP HPO MIM:611560 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		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 SMPD4 sphingomyelin phosphodiesterase 4 IAGP HPO PMID:31495489 MIM:618622 NCBI chr 2:130,151,392...130,181,757
Ensembl chr 2:130,151,392...130,182,750 		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 TMEM237 transmembrane protein 237 IAGP HPO PMID:22152675 MIM:614424 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:17160906 MIM:610688 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		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 chr12:88,142,296...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 chr11:57,712,580...57,742,987 		JBrowse link
G TOE1 target of EGR1, exonuclease IAGP HPO PMID:28092684 MIM:614969 ORPHA:284339 NCBI chr 1:45,340,170...45,343,973
Ensembl chr 1:45,340,052...45,343,973 		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 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 PMID:23562994 MIM:612389 ORPHA:2524 NCBI chr 3:12,480,231...12,539,624
Ensembl chr 3:12,484,421...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 chr19:54,189,938...54,194,536 		JBrowse link
G TSEN54 tRNA splicing endonuclease subunit 54 IAGP HPO MIM:225753 ORPHA:166063 ORPHA:2524 NCBI chr17:75,516,528...75,524,735
Ensembl chr17:75,515,944...75,524,735 		JBrowse link
G TUBA1A tubulin alpha 1a IAGP HPO PMID:17584854 MIM:611603 ORPHA:171680 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,324 		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 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 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 PMID:19465910 MIM:610031 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 PMID:20829227 MIM:614039 ORPHA:300570 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761 		JBrowse link
G USH2A usherin IAGP ClinVar Annotator: match by term: Hypoplasia of the brainstem ClinVar PMID:16963483 PMID:24033266 PMID:25741868 PMID:28041643 PMID:28492532 More... NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448 		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:41,085,445...41,236,579 		JBrowse link
G VLDLR very low density lipoprotein receptor IAGP HPO MIM:224050 NCBI chr 9:2,621,787...2,660,056
Ensembl chr 9:2,621,182...2,660,056 		JBrowse link
G WARS2 tryptophanyl tRNA synthetase 2, mitochondrial IAGP HPO ORPHA:572798 NCBI chr 1:119,031,216...119,140,672
Ensembl chr 1:119,031,216...119,140,654 		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
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 98827
    Phenotypic abnormality 98430
      Abnormality of the nervous system 34759
        Abnormal nervous system morphology 9756
          Morphological central nervous system abnormality 9638
            Aplasia/Hypoplasia involving the central nervous system 2134
              Aplasia/Hypoplasia of the brainstem 91
                Hypoplasia of the brainstem 91
Path 2
Term Annotations click to browse term
  Human phenotype 98827
    Phenotypic abnormality 98430
      Abnormality of the nervous system 34759
        Abnormal nervous system morphology 9756
          Morphological central nervous system abnormality 9638
            Abnormal brain morphology 4362
              Abnormal brainstem morphology 292
                Aplasia/Hypoplasia of the brainstem 91
                  Hypoplasia of the brainstem 91
paths to the root