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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:Abnormality of binocular vision
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Accession:HP:0011514 term browser browse the term
Definition:An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth.
Synonyms:xref: UMLS:C4023320


show annotations for term's descendants           Sort by:
Abnormal stereopsis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP associated with RASopathy;DNA:missense mutations:CDS:multiple (human) RGD PMID:19568997 RGD:155630626 NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345 		JBrowse link
Diplopia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADPRS ADP-ribosylserine hydrolase IAGP HPO OMIM:618170 NCBI chr 1:36,088,892...36,093,932
Ensembl chr 1:36,088,892...36,093,932 		JBrowse link
G AGRN agrin IAGP HPO ORPHA:98913 ORPHA:98914 NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,118 		JBrowse link
G AIP aryl hydrocarbon receptor interacting protein IAGP HPO ORPHA:2965 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G AK9 adenylate kinase 9 IAGP HPO ORPHA:98913 NCBI chr 6:109,492,855...109,691,202
Ensembl chr 6:109,492,855...109,691,217 		JBrowse link
G ANO10 anoctamin 10 IAGP HPO ORPHA:284289 NCBI chr 3:43,365,848...43,691,594
Ensembl chr 3:43,354,859...43,691,594 		JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 IAGP HPO OMIM:602481 ORPHA:569 NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591 		JBrowse link
G ATXN3 ataxin 3 IAGP HPO OMIM:109150 ORPHA:276238 ORPHA:276241 ORPHA:276244 NCBI chr14:92,044,775...92,106,582
Ensembl chr14:92,044,496...92,106,621 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP HPO OMIM:108500 ORPHA:569 ORPHA:97 ORPHA:98758 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025 		JBrowse link
G CACNA1G calcium voltage-gated channel subunit alpha1 G IAGP HPO OMIM:616795 ORPHA:458803 NCBI chr17:50,560,715...50,627,474
Ensembl chr17:50,560,715...50,627,474 		JBrowse link
G CDH23 cadherin related 23 IAGP HPO ORPHA:2965 ORPHA:91347 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G CHAT choline O-acetyltransferase IAGP HPO ORPHA:98914 NCBI chr10:49,609,095...49,667,942
Ensembl chr10:49,609,095...49,667,942 		JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP HPO ORPHA:98913 NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935 		JBrowse link
G CHRNB1 cholinergic receptor nicotinic beta 1 subunit IAGP HPO ORPHA:98913 NCBI chr17:7,445,061...7,457,710
Ensembl chr17:7,445,061...7,457,710 		JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit IAGP HPO ORPHA:98913 NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667 		JBrowse link
G CHRNE cholinergic receptor nicotinic epsilon subunit IAGP HPO ORPHA:98913 NCBI chr17:4,897,771...4,908,677
Ensembl chr17:4,897,771...4,934,438 		JBrowse link
G COL13A1 collagen type XIII alpha 1 chain IAGP HPO ORPHA:98913 ORPHA:98914 NCBI chr10:69,801,906...69,959,144
Ensembl chr10:69,801,880...69,964,275 		JBrowse link
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial IAGP HPO ORPHA:137898 NCBI chr 1:173,824,673...173,858,546
Ensembl chr 1:173,824,653...173,858,808 		JBrowse link
G DKK1 dickkopf WNT signaling pathway inhibitor 1 IAGP HPO ORPHA:268882 NCBI chr10:52,314,281...52,317,657
Ensembl chr10:52,314,281...52,318,042 		JBrowse link
G DNAJC13 DnaJ heat shock protein family (Hsp40) member C13 IAGP HPO ORPHA:411602 NCBI chr 3:132,417,502...132,539,032
Ensembl chr 3:132,417,502...132,539,032 		JBrowse link
G DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 IAGP HPO ORPHA:2828 NCBI chr 1:65,264,749...65,415,871
Ensembl chr 1:65,248,219...65,415,871 		JBrowse link
G DOK7 docking protein 7 IAGP HPO ORPHA:98913 NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473 		JBrowse link
G EIF4G1 eukaryotic translation initiation factor 4 gamma 1 IAGP HPO ORPHA:411602 NCBI chr 3:184,314,606...184,335,358
Ensembl chr 3:184,314,495...184,335,358 		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 chr19:45,349,837...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 2:127,257,290...127,294,166 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO ORPHA:220295 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 FGF14 fibroblast growth factor 14 IAGP HPO OMIM:620174 NCBI chr13:101,710,804...102,402,443
Ensembl chr13:101,710,804...102,402,457 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO ORPHA:411602 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G GIGYF2 GRB10 interacting GYF protein 2 IAGP HPO ORPHA:411602 NCBI chr 2:232,697,331...232,860,605
Ensembl chr 2:232,697,299...232,860,605 		JBrowse link
G GRK1 G protein-coupled receptor kinase 1 IAGP HPO ORPHA:75382 NCBI chr13:113,648,199...113,737,736
Ensembl chr13:113,667,219...113,737,736 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP HPO ORPHA:397 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP HPO OMIM:126200 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO OMIM:126200 ORPHA:397 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848 		JBrowse link
G HTRA2 HtrA serine peptidase 2 IAGP HPO ORPHA:2828 NCBI chr 2:74,529,405...74,533,556
Ensembl chr 2:74,529,596...74,533,350 		JBrowse link
G KCNA1 potassium voltage-gated channel subfamily A member 1 IAGP HPO ORPHA:37612 NCBI chr12:4,909,905...4,918,256
Ensembl chr12:4,909,905...4,918,256 		JBrowse link
G KCND3 potassium voltage-gated channel subfamily D member 3 IAGP HPO ORPHA:98772 NCBI chr 1:111,770,662...111,989,668
Ensembl chr 1:111,770,662...111,989,668 		JBrowse link
G LRP4 LDL receptor related protein 4 IAGP HPO ORPHA:98913 NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642 		JBrowse link
G LRRK2 leucine rich repeat kinase 2 IAGP HPO ORPHA:2828 ORPHA:411602 NCBI chr12:40,224,997...40,369,285
Ensembl chr12:40,196,744...40,369,285 		JBrowse link
G MAPT microtubule associated protein tau IAGP HPO OMIM:601104 NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334 		JBrowse link
G MEN1 menin 1 IAGP HPO ORPHA:2965 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G MGME1 mitochondrial genome maintenance exonuclease 1 IAGP HPO ORPHA:352447 NCBI chr20:17,968,590...17,991,122
Ensembl chr20:17,969,018...17,991,122 		JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP HPO ORPHA:663 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G MT-TL2 mitochondrially encoded tRNA-Leu (CUN) 2 IAGP HPO ORPHA:663 NCBI chr MT:12,266...12,336
Ensembl chr MT:12,266...12,336 		JBrowse link
G MT-TN mitochondrially encoded tRNA-Asn (AAU/C) IAGP HPO ORPHA:663 NCBI chr MT:5,657...5,729
Ensembl chr MT:5,657...5,729 		JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP HPO ORPHA:663 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP HPO ORPHA:98913 NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558 		JBrowse link
G MYO5A myosin VA IAGP HPO ORPHA:79476 NCBI chr15:52,307,283...52,529,050
Ensembl chr15:52,307,281...52,529,132 		JBrowse link
G MYO9A myosin IXA IAGP HPO ORPHA:98914 NCBI chr15:71,822,291...72,118,600
Ensembl chr15:71,822,291...72,118,577 		JBrowse link
G NAB2 NGFI-A binding protein 2 IAGP HPO ORPHA:2126 NCBI chr12:57,089,114...57,095,476
Ensembl chr12:57,089,043...57,095,476 		JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP HPO ORPHA:637 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,556...29,698,598 		JBrowse link
G NFKB2 nuclear factor kappa B subunit 2 IAGP HPO ORPHA:293978 NCBI chr10:102,394,110...102,402,529
Ensembl chr10:102,394,110...102,402,524 		JBrowse link
G NOP56 NOP56 ribonucleoprotein IAGP HPO ORPHA:276198 NCBI chr20:2,652,632...2,658,393
Ensembl chr20:2,652,593...2,658,393 		JBrowse link
G NPTX1 neuronal pentraxin 1 IAGP HPO OMIM:620158 NCBI chr17:80,466,834...80,476,607
Ensembl chr17:80,466,834...80,477,843 		JBrowse link
G P4HA2 prolyl 4-hydroxylase subunit alpha 2 IAGP HPO ORPHA:397 NCBI chr 5:132,190,147...132,227,853
Ensembl chr 5:132,190,147...132,295,315 		JBrowse link
G PARK7 Parkinsonism associated deglycase IAGP HPO ORPHA:2828 NCBI chr 1:7,961,711...7,985,505
Ensembl chr 1:7,954,291...7,985,505 		JBrowse link
G PDCD1 programmed cell death 1 IAGP HPO OMIM:126200 NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894 		JBrowse link
G PINK1 PTEN induced kinase 1 IAGP HPO ORPHA:2828 NCBI chr 1:20,633,458...20,651,511
Ensembl chr 1:20,633,458...20,651,511 		JBrowse link
G PODXL podocalyxin like IAGP HPO ORPHA:2828 NCBI chr 7:131,500,271...131,556,628
Ensembl chr 7:131,500,262...131,558,217 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO OMIM:157640 OMIM:258450 OMIM:603041 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase IAGP HPO ORPHA:2828 NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775 		JBrowse link
G PRNP prion protein IAGP HPO OMIM:600072 NCBI chr20:4,686,456...4,701,588
Ensembl chr20:4,686,350...4,701,590 		JBrowse link
G PRRT2 proline rich transmembrane protein 2 IAGP HPO ORPHA:569 NCBI chr16:29,812,193...29,815,881
Ensembl chr16:29,811,382...29,815,892 		JBrowse link
G PTPN22 protein tyrosine phosphatase non-receptor type 22 IAGP HPO ORPHA:397 NCBI chr 1:113,813,811...113,871,759
Ensembl chr 1:113,813,811...113,871,753 		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 RAPSN receptor associated protein of the synapse IAGP HPO ORPHA:98913 NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143 		JBrowse link
G RILPL1 Rab interacting lysosomal protein like 1 IAGP HPO OMIM:619790 NCBI chr12:123,470,054...123,533,719
Ensembl chr12:123,470,054...123,533,719 		JBrowse link
G SAG S-antigen visual arrestin IAGP HPO ORPHA:75382 NCBI chr 2:233,307,816...233,347,055
Ensembl chr 2:233,307,816...233,347,055 		JBrowse link
G SAMD9L sterile alpha motif domain containing 9 like IAGP HPO OMIM:619806 NCBI chr 7:93,130,056...93,148,385
Ensembl chr 7:93,130,056...93,148,385 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP HPO ORPHA:569 NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO ORPHA:98913 ORPHA:99734 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A IAGP HPO OMIM:619259 NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082 		JBrowse link
G SERPINI1 serpin family I member 1 IAGP HPO OMIM:604218 NCBI chr 3:167,735,721...167,825,569
Ensembl chr 3:167,735,243...167,825,569 		JBrowse link
G SLC18A3 solute carrier family 18 member A3 IAGP HPO ORPHA:98914 NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720 		JBrowse link
G SLC1A3 solute carrier family 1 member 3 IAGP HPO OMIM:612656 ORPHA:209967 NCBI chr 5:36,606,606...36,688,334
Ensembl chr 5:36,596,588...36,688,334 		JBrowse link
G SLC25A1 solute carrier family 25 member 1 IAGP HPO ORPHA:98914 NCBI chr22:19,175,581...19,178,736
Ensembl chr22:19,175,581...19,178,739 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 IAGP HPO OMIM:601042 ORPHA:53583 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893 		JBrowse link
G SLC5A7 solute carrier family 5 member 7 IAGP HPO ORPHA:98914 NCBI chr 2:107,986,524...108,013,994
Ensembl chr 2:107,986,523...108,013,994 		JBrowse link
G SNAP25 synaptosome associated protein 25 IAGP HPO ORPHA:98914 NCBI chr20:10,218,830...10,307,418
Ensembl chr20:10,172,395...10,308,258 		JBrowse link
G SNCA synuclein alpha IAGP HPO ORPHA:2828 ORPHA:411602 NCBI chr 4:89,724,099...89,838,304
Ensembl chr 4:89,700,345...89,838,315 		JBrowse link
G SPTBN2 spectrin beta, non-erythrocytic 2 IAGP HPO ORPHA:352403 NCBI chr11:66,682,497...66,744,682
Ensembl chr11:66,682,497...66,744,670 		JBrowse link
G STAT6 signal transducer and activator of transcription 6 IAGP HPO ORPHA:2126 NCBI chr12:57,095,408...57,111,362
Ensembl chr12:57,095,408...57,132,139 		JBrowse link
G SYNJ1 synaptojanin 1 IAGP HPO ORPHA:2828 NCBI chr21:32,628,759...32,728,394
Ensembl chr21:32,628,759...32,728,040 		JBrowse link
G SYT2 synaptotagmin 2 IAGP HPO ORPHA:98914 NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,454 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP HPO OMIM:131300 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TMEM240 transmembrane protein 240 IAGP HPO ORPHA:98773 NCBI chr 1:1,534,778...1,540,624
Ensembl chr 1:1,534,778...1,540,624 		JBrowse link
G TOP3A DNA topoisomerase III alpha IAGP HPO OMIM:618098 NCBI chr17:18,271,428...18,314,994
Ensembl chr17:18,271,428...18,315,007 		JBrowse link
G TPP1 tripeptidyl peptidase 1 IAGP HPO OMIM:609270 ORPHA:284324 NCBI chr11:6,612,768...6,619,422
Ensembl chr11:6,612,768...6,619,448 		JBrowse link
G TTC19 tetratricopeptide repeat domain 19 IAGP HPO OMIM:615157 NCBI chr17:15,999,824...16,045,015
Ensembl chr17:15,999,784...16,045,015 		JBrowse link
G TTR transthyretin IAGP HPO OMIM:105210 NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833 		JBrowse link
G TYMP thymidine phosphorylase IAGP HPO OMIM:603041 NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032 		JBrowse link
G UCHL1 ubiquitin C-terminal hydrolase L1 IAGP HPO ORPHA:2828 NCBI chr 4:41,256,928...41,268,455
Ensembl chr 4:41,256,413...41,268,455 		JBrowse link
G VAMP1 vesicle associated membrane protein 1 IAGP HPO ORPHA:98914 NCBI chr12:6,462,237...6,470,677
Ensembl chr12:6,462,237...6,470,677 		JBrowse link
G VPS13C vacuolar protein sorting 13 homolog C IAGP HPO ORPHA:2828 NCBI chr15:61,852,389...62,060,447
Ensembl chr15:61,852,389...62,060,473 		JBrowse link
G VPS35 VPS35 retromer complex component IAGP HPO ORPHA:411602 NCBI chr16:46,656,132...46,689,178
Ensembl chr16:46,656,132...46,689,518 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21486
    Phenotypic abnormality 21476
      Abnormality of the eye 3464
        Abnormal eye physiology 2614
          Abnormality of vision 1375
            Abnormality of binocular vision 95
              Abnormal stereopsis 1
              Diplopia 94
paths to the root