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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 corticospinal tract morphology
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Accession:HP:0002492 term browser browse the term
Definition:Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord.
Synonyms:exact_synonym: Morphological abnormality of the corticospinal tract
 related_synonym: Abnormality of the corticospinal tract;   Involvement of the corticospinal pathways
 alt_id: HP:0006912
 xref: UMLS:C4020852;   UMLS:C4025704


show annotations for term's descendants           Sort by:
Abnormal corticospinal tract morphology term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 IAGP HPO MIM:607225 NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112 		JBrowse link
G DCC DCC netrin 1 receptor IAGP HPO ORPHA:238722 NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,899 		JBrowse link
G DNAL4 dynein axonemal light chain 4 IAGP HPO ORPHA:238722 NCBI chr22:38,778,508...38,794,143
Ensembl chr22:38,778,508...38,794,198 		JBrowse link
G GALC galactosylceramidase IAGP HPO ORPHA:206448 NCBI chr14:87,933,014...87,993,667
Ensembl chr14:87,837,820...87,993,665 		JBrowse link
G NTN1 netrin 1 IAGP HPO ORPHA:238722 NCBI chr17:9,003,087...9,244,000
Ensembl chr17:9,021,510...9,244,000 		JBrowse link
G RAD51 RAD51 recombinase IAGP HPO ORPHA:238722 NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340 		JBrowse link
Atrophy/Degeneration involving the corticospinal tracts term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCD1 ATP binding cassette subfamily D member 1 IAGP HPO ORPHA:139399 NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755 		JBrowse link
G BAZ1B bromodomain adjacent to zinc finger domain 1B IAGP HPO ORPHA:904 NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293 		JBrowse link
G BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor IAGP HPO ORPHA:904 NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212 		JBrowse link
G CLIP2 CAP-Gly domain containing linker protein 2 IAGP HPO ORPHA:904 NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935 		JBrowse link
G DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 IAGP HPO ORPHA:904 NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453 		JBrowse link
G EIF4H eukaryotic translation initiation factor 4H IAGP HPO ORPHA:904 NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122 		JBrowse link
G ELN elastin IAGP HPO ORPHA:904 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP HPO ORPHA:904 NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637 		JBrowse link
G GTF2I general transcription factor IIi IAGP HPO ORPHA:904 NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692 		JBrowse link
G GTF2IRD1 GTF2I repeat domain containing 1 IAGP HPO ORPHA:904 NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605 		JBrowse link
G GTF2IRD2 GTF2I repeat domain containing 2 IAGP HPO ORPHA:904 NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605 		JBrowse link
G LIMK1 LIM domain kinase 1 IAGP HPO ORPHA:904 NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525 		JBrowse link
G METTL27 methyltransferase like 27 IAGP HPO ORPHA:904 NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516 		JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP HPO ORPHA:904 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315 		JBrowse link
G RFC2 replication factor C subunit 2 IAGP HPO ORPHA:904 NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458 		JBrowse link
G STX1A syntaxin 1A IAGP HPO ORPHA:904 NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672 		JBrowse link
G TBL2 transducin beta like 2 IAGP HPO ORPHA:904 NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791 		JBrowse link
G TMEM270 transmembrane protein 270 IAGP HPO ORPHA:904 NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890 		JBrowse link
G VPS37D VPS37D subunit of ESCRT-I IAGP HPO ORPHA:904 NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112 		JBrowse link
Corticospinal tract atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-ATP6 mitochondrially encoded ATP synthase membrane subunit 6 IAGP HPO MIM:551500 ORPHA:644 NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207 		JBrowse link
Corticospinal tract hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G L1CAM L1 cell adhesion molecule IAGP HPO MIM:307000 NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,514...153,886,173 		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
Degeneration of the lateral corticospinal tracts term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATL1 atlastin GTPase 1 IAGP HPO MIM:182600 NCBI chr14:50,533,082...50,633,068
Ensembl chr14:50,532,509...50,634,017 		JBrowse link
G CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 IAGP HPO ORPHA:275872 NCBI chr22:23,765,834...23,767,972
Ensembl chr22:23,765,834...23,767,972 		JBrowse link
G CPT1C carnitine palmitoyltransferase 1C IAGP HPO ORPHA:444099 NCBI chr19:49,690,662...49,713,731
Ensembl chr19:49,690,898...49,713,731 		JBrowse link
G DCTN1 dynactin subunit 1 IAGP HPO MIM:105400 NCBI chr 2:74,361,155...74,391,866
Ensembl chr 2:74,361,154...74,392,087 		JBrowse link
G FUS FUS RNA binding protein IAGP HPO ORPHA:275872 NCBI chr16:31,180,110...31,194,871
Ensembl chr16:31,180,138...31,196,963 		JBrowse link
G KPNA3 karyopherin subunit alpha 3 IAGP HPO ORPHA:171612 NCBI chr13:49,699,320...49,792,682
Ensembl chr13:49,699,320...49,792,682 		JBrowse link
G NEFH neurofilament heavy chain IAGP HPO MIM:105400 NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390 		JBrowse link
G NIPA1 NIPA magnesium transporter 1 IAGP HPO MIM:600363 NCBI chr15:22,786,225...22,829,789
Ensembl chr15:22,773,063...22,829,789 		JBrowse link
G PLP1 proteolipid protein 1 IAGP HPO MIM:312920 NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619 		JBrowse link
G PRPH peripherin IAGP HPO MIM:105400 NCBI chr12:49,295,147...49,298,686
Ensembl chr12:49,295,147...49,298,686 		JBrowse link
G RTN2 reticulon 2 IAGP HPO ORPHA:100993 NCBI chr19:45,485,294...45,497,047
Ensembl chr19:45,485,294...45,497,055 		JBrowse link
G SLC33A1 solute carrier family 33 member 1 IAGP HPO ORPHA:171863 NCBI chr 3:155,821,024...155,854,427
Ensembl chr 3:155,821,024...155,854,456 		JBrowse link
G SOD1 superoxide dismutase 1 IAGP HPO MIM:105400 NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931 		JBrowse link
G SPAST spastin IAGP HPO MIM:182601 NCBI chr 2:32,063,556...32,157,637
Ensembl chr 2:32,063,556...32,157,637 		JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP HPO MIM:604360 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688 		JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin IAGP HPO MIM:607259 NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766 		JBrowse link
G SQSTM1 sequestosome 1 IAGP HPO ORPHA:275872 NCBI chr 5:179,806,393...179,838,078
Ensembl chr 5:179,806,398...179,838,078 		JBrowse link
G TARDBP TAR DNA binding protein IAGP HPO ORPHA:275872 NCBI chr 1:11,012,654...11,030,528
Ensembl chr 1:11,012,344...11,030,528 		JBrowse link
G TBK1 TANK binding kinase 1 IAGP HPO ORPHA:275872 NCBI chr12:64,452,120...64,502,114
Ensembl chr12:64,452,090...64,502,114 		JBrowse link
G UBAP1 ubiquitin associated protein 1 IAGP HPO ORPHA:100993 NCBI chr 9:34,179,005...34,252,523
Ensembl chr 9:34,179,005...34,252,523 		JBrowse link
G VCP valosin containing protein IAGP HPO ORPHA:275872 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
G WASHC5 WASH complex subunit 5 IAGP HPO MIM:603563 ORPHA:100989 NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 74032
    Phenotypic abnormality 73727
      Abnormality of the nervous system 28579
        Abnormal nervous system morphology 5275
          Morphological central nervous system abnormality 5160
            Abnormal pyramidal tract morphology 70
              Abnormal corticospinal tract morphology 50
                Aplasia/Hypoplasia involving the corticospinal tracts + 2
                Atrophy/Degeneration involving the corticospinal tracts + 42
                Corticospinal tract pallor 0
paths to the root