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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:Decreased facial expression
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Accession:HP:0004673 term browser browse the term
Definition:A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions.
Synonyms:xref: UMLS:C1862474


show annotations for term's descendants           Sort by:
Decreased facial expression term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASXL3 ASXL transcriptional regulator 3 IAGP HPO ORPHA:352577 NCBI chr18:33,578,219...33,751,195
Ensembl chr18:33,578,219...33,751,195 		JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP HPO ORPHA:254531 NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224 		JBrowse link
G DNA2 DNA replication helicase/nuclease 2 IAGP HPO MIM:615156 ORPHA:352470 NCBI chr10:68,414,064...68,472,521
Ensembl chr10:68,414,064...68,472,121 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta IAGP HPO ORPHA:269 NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359 		JBrowse link
G DUX4 double homeobox 4 IAGP HPO ORPHA:269 NCBI chr 4:190,173,774...190,185,911
Ensembl chr 4:190,173,774...190,185,942 		JBrowse link
G DUX4L1 double homeobox 4 like 1 (pseudogene) IAGP HPO ORPHA:269 NCBI chr 4:190,084,412...190,085,696
Ensembl chr 4:190,084,412...190,085,686 		JBrowse link
G FRG1 FSHD region gene 1 IAGP HPO ORPHA:269 NCBI chr 4:189,940,872...189,963,192
Ensembl chr 4:189,940,855...189,963,202 		JBrowse link
G MEG3 maternally expressed 3 IAGP HPO ORPHA:254531 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO MIM:108145 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO MIM:300868 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554 		JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP HPO ORPHA:254531 NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722 		JBrowse link
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 IAGP HPO ORPHA:269 NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017 		JBrowse link
Fixed facial expression term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAPT microtubule associated protein tau IAGP HPO ORPHA:240094 NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334 		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
Hypomimic face term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATCAY ATCAY kinesin light chain interacting caytaxin IAGP HPO MIM:601238 NCBI chr19:3,880,685...3,928,082
Ensembl chr19:3,879,864...3,928,082 		JBrowse link
G ATP13A2 ATPase cation transporting 13A2 IAGP HPO ORPHA:306674 NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP HPO MIM:128235 ORPHA:71517 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497 		JBrowse link
G ATP6AP2 ATPase H+ transporting accessory protein 2 IAGP HPO MIM:300423 MIM:300911 ORPHA:93952 NCBI chr  X:40,580,970...40,606,848
Ensembl chr  X:40,579,372...40,606,848 		JBrowse link
G CC2D1A coiled-coil and C2 domain containing 1A IAGP HPO MIM:608443 NCBI chr19:13,906,201...13,930,879
Ensembl chr19:13,906,201...13,930,879 		JBrowse link
G CLTC clathrin heavy chain IAGP HPO MIM:617854 NCBI chr17:59,619,895...59,696,956
Ensembl chr17:59,619,680...59,696,956 		JBrowse link
G CNTNAP1 contactin associated protein 1 IAGP HPO MIM:618186 NCBI chr17:42,682,531...42,699,993
Ensembl chr17:42,682,531...42,699,993 		JBrowse link
G DDHD2 DDHD domain containing 2 IAGP HPO MIM:615033 NCBI chr 8:38,231,585...38,273,647
Ensembl chr 8:38,225,218...38,275,558 		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 MIM:615528 ORPHA:391411 NCBI chr 1:65,264,749...65,415,871
Ensembl chr 1:65,248,219...65,415,871 		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 FBXO7 F-box protein 7 IAGP HPO MIM:260300 ORPHA:171695 NCBI chr22:32,474,811...32,498,829
Ensembl chr22:32,474,676...32,498,829 		JBrowse link
G FTL ferritin light chain IAGP HPO MIM:606159 ORPHA:157846 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,966,879 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP ClinVar Annotator: match by term: Hypomimic face HPO
ClinVar		 PMID:1899336 PMID:1972019 PMID:2309702 PMID:2378352 PMID:2464926 More... 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 JAM2 junctional adhesion molecule 2 IAGP HPO MIM:618824 NCBI chr21:25,639,258...25,717,562
Ensembl chr21:25,639,258...25,717,562 		JBrowse link
G KCNK9 potassium two pore domain channel subfamily K member 9 IAGP HPO ORPHA:166108 NCBI chr 8:139,600,838...139,703,123
Ensembl chr 8:139,600,838...139,704,109 		JBrowse link
G LOC106627981 GBA recombination region IAGP ClinVar Annotator: match by term: Hypomimic face ClinVar PMID:1899336 PMID:1972019 PMID:2309702 PMID:2378352 PMID:2464926 More... NCBI chr 1:155,233,639...155,240,092 JBrowse link
G LRRK2 leucine rich repeat kinase 2 IAGP HPO ORPHA:411602 NCBI chr12:40,224,997...40,369,285
Ensembl chr12:40,196,744...40,369,285 		JBrowse link
G MYMX myomixer, myoblast fusion factor IAGP HPO MIM:619941 NCBI chr 6:44,192,721...44,218,234
Ensembl chr 6:44,216,926...44,218,234 		JBrowse link
G OGDHL oxoglutarate dehydrogenase L IAGP HPO MIM:619701 NCBI chr10:49,734,641...49,762,379
Ensembl chr10:49,734,641...49,762,379 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP ClinVar Annotator: match by term: Hypomimic face ClinVar PMID:12036970 PMID:19303950 PMID:20157015 PMID:22857269 PMID:23388408 More... NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811 		JBrowse link
G PLA2G6 phospholipase A2 group VI IAGP HPO MIM:612953 ORPHA:199351 NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778 		JBrowse link
G PLAA phospholipase A2 activating protein IAGP HPO MIM:617527 NCBI chr 9:26,903,372...26,947,242
Ensembl chr 9:26,903,372...26,947,242 		JBrowse link
G PODXL podocalyxin like IAGP HPO ORPHA:391411 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 ORPHA:254892 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit IAGP HPO ORPHA:254892 NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054 		JBrowse link
G PRDX3 peroxiredoxin 3 IAGP HPO MIM:619862 NCBI chr10:119,167,720...119,178,812
Ensembl chr10:119,167,720...119,178,812 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP HPO ORPHA:254892 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961 		JBrowse link
G SLC18A2 solute carrier family 18 member A2 IAGP HPO MIM:618049 ORPHA:352649 NCBI chr10:117,241,114...117,279,430
Ensembl chr10:117,241,093...117,279,430 		JBrowse link
G SLC25A4 solute carrier family 25 member 4 IAGP HPO ORPHA:254892 NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382 		JBrowse link
G SLC30A10 solute carrier family 30 member 10 IAGP HPO ORPHA:309854 NCBI chr 1:219,910,445...219,959,098
Ensembl chr 1:219,685,427...219,959,018 		JBrowse link
G SLC39A14 solute carrier family 39 member 14 IAGP HPO MIM:617013 ORPHA:521406 NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129 		JBrowse link
G SLC6A3 solute carrier family 6 member 3 IAGP HPO MIM:613135 ORPHA:238455 NCBI chr 5:1,392,794...1,445,440
Ensembl chr 5:1,392,794...1,445,440 		JBrowse link
G SNCA synuclein alpha IAGP HPO ORPHA:171695 ORPHA:411602 NCBI chr 4:89,724,099...89,838,304
Ensembl chr 4:89,700,345...89,838,315 		JBrowse link
G SPR sepiapterin reductase IAGP HPO ORPHA:70594 NCBI chr 2:72,887,408...72,892,158
Ensembl chr 2:72,887,382...72,892,158 		JBrowse link
G SYNJ1 synaptojanin 1 IAGP HPO ORPHA:391411 NCBI chr21:32,628,759...32,728,394
Ensembl chr21:32,628,759...32,728,040 		JBrowse link
G TECPR2 tectonin beta-propeller repeat containing 2 IAGP HPO MIM:615031 ORPHA:320385 NCBI chr14:102,362,941...102,502,477
Ensembl chr14:102,362,941...102,502,477 		JBrowse link
G TWNK twinkle mtDNA helicase IAGP HPO ORPHA:254892 NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403 		JBrowse link
G TXNL4A thioredoxin like 4A IAGP HPO MIM:608572 NCBI chr18:79,970,813...80,033,936
Ensembl chr18:79,970,813...80,033,949 		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
Loss of facial expression term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP HPO MIM:123400 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G PRNP prion protein (Kanno blood group) IAGP HPO MIM:123400 ORPHA:282166 NCBI chr20:4,686,456...4,701,588
Ensembl chr20:4,686,350...4,701,590 		JBrowse link
Mask-like facies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO MIM:161800 MIM:620278 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ADH1C alcohol dehydrogenase 1C (class I), gamma polypeptide IAGP HPO MIM:168600 NCBI chr 4:99,336,497...99,352,746
Ensembl chr 4:99,336,497...99,352,746 		JBrowse link
G ATP13A2 ATPase cation transporting 13A2 IAGP HPO MIM:606693 NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928 		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 ATP6V1A ATPase H+ transporting V1 subunit A IAGP HPO MIM:617403 NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056 		JBrowse link
G ATP7A ATPase copper transporting alpha IAGP HPO ORPHA:565 NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395 		JBrowse link
G ATXN2 ataxin 2 IAGP HPO MIM:168600 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:168600 NCBI chr14:92,044,775...92,106,582
Ensembl chr14:92,044,496...92,106,621 		JBrowse link
G ATXN8OS ATXN8 opposite strand lncRNA IAGP HPO MIM:168600 NCBI chr13:70,107,421...70,171,738
Ensembl chr13:70,107,213...70,171,738 		JBrowse link
G DCTN1 dynactin subunit 1 IAGP HPO MIM:168605 NCBI chr 2:74,361,155...74,391,866
Ensembl chr 2:74,361,154...74,392,087 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta IAGP HPO ORPHA:269 NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359 		JBrowse link
G DUX4 double homeobox 4 IAGP HPO ORPHA:269 NCBI chr 4:190,173,774...190,185,911
Ensembl chr 4:190,173,774...190,185,942 		JBrowse link
G DUX4L1 double homeobox 4 like 1 (pseudogene) IAGP HPO ORPHA:269 NCBI chr 4:190,084,412...190,085,696
Ensembl chr 4:190,084,412...190,085,686 		JBrowse link
G EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2 IAGP HPO MIM:618877 NCBI chr 2:37,099,210...37,156,980
Ensembl chr 2:37,099,210...37,157,522 		JBrowse link
G FA2H fatty acid 2-hydroxylase IAGP HPO ORPHA:171629 NCBI chr16:74,712,969...74,774,820
Ensembl chr16:74,712,955...74,774,831 		JBrowse link
G FKRP fukutin related protein IAGP HPO MIM:236670 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 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G FMR1 fragile X messenger ribonucleoprotein 1 IAGP HPO MIM:300623 NCBI chr  X:147,911,919...147,951,125
Ensembl chr  X:147,911,919...147,951,125 		JBrowse link
G FRG1 FSHD region gene 1 IAGP HPO ORPHA:269 NCBI chr 4:189,940,872...189,963,192
Ensembl chr 4:189,940,855...189,963,202 		JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP ClinVar Annotator: match by term: Expressionless face HPO
ClinVar		 PMID:1899336 PMID:1972019 PMID:2309702 PMID:2378352 PMID:2464926 More... MIM:168600 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO MIM:255800 ORPHA:800 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G ITPR1 inositol 1,4,5-trisphosphate receptor type 1 IAGP HPO ORPHA:1065 NCBI chr 3:4,493,348...4,847,506
Ensembl chr 3:4,493,345...4,847,506 		JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP DNA:mutations:cds:multiple RGD PMID:22077973 RGD:9588484 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624 		JBrowse link
G KCNJ6 potassium inwardly rectifying channel subfamily J member 6 IAGP HPO ORPHA:435628 NCBI chr21:37,607,373...37,916,457
Ensembl chr21:37,607,373...38,121,345 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO MIM:236670 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G LOC106627981 GBA recombination region IAGP ClinVar Annotator: match by term: Expressionless face ClinVar PMID:1899336 PMID:1972019 PMID:2309702 PMID:2378352 PMID:2464926 More... NCBI chr 1:155,233,639...155,240,092 JBrowse link
G MAPT microtubule associated protein tau IAGP HPO MIM:168600 NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334 		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...94,493,885 		JBrowse link
G MT-TT mitochondrially encoded tRNA-Thr (ACN) IAGP HPO MIM:168600 NCBI chr MT:15,888...15,953
Ensembl chr MT:15,888...15,953 		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 NEUROG1 neurogenin 1 IAGP HPO MIM:620469 NCBI chr 5:135,534,282...135,535,964
Ensembl chr 5:135,534,282...135,535,964 		JBrowse link
G NR4A2 nuclear receptor subfamily 4 group A member 2 IAGP HPO MIM:168600 NCBI chr 2:156,324,437...156,332,721
Ensembl chr 2:156,324,437...156,342,348 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP ClinVar Annotator: match by term: Expressionless face ClinVar PMID:12036970 PMID:19303950 PMID:20157015 PMID:22857269 PMID:23388408 More... NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811 		JBrowse link
G PABPN1 poly(A) binding protein nuclear 1 IAGP HPO MIM:164300 ORPHA:270 NCBI chr14:23,321,457...23,326,163
Ensembl chr14:23,321,457...23,326,163 		JBrowse link
G PANK2 pantothenate kinase 2 IAGP HPO ORPHA:216866 NCBI chr20:3,888,781...3,929,887
Ensembl chr20:3,888,839...3,929,887 		JBrowse link
G PAX6 paired box 6 IAGP HPO ORPHA:1065 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961 		JBrowse link
G PDGFB platelet derived growth factor subunit B IAGP HPO MIM:213600 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 HPO MIM:213600 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		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 PLXND1 plexin D1 IAGP HPO ORPHA:570 NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO ORPHA:254886 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO MIM:236670 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 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G PRNP prion protein (Kanno blood group) IAGP HPO ORPHA:157941 NCBI chr20:4,686,456...4,701,588
Ensembl chr20:4,686,350...4,701,590 		JBrowse link
G PTRHD1 peptidyl-tRNA hydrolase domain containing 1 IAGP HPO MIM:620747 NCBI chr 2:24,789,728...24,793,391
Ensembl chr 2:24,789,728...24,793,391 		JBrowse link
G REV3L REV3 like, DNA directed polymerase zeta catalytic subunit IAGP HPO ORPHA:570 NCBI chr 6:111,299,033...111,483,711
Ensembl chr 6:111,299,028...111,483,715 		JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 IAGP HPO MIM:263650 NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089 		JBrowse link
G SLC20A2 solute carrier family 20 member 2 IAGP HPO MIM:213600 NCBI chr 8:42,416,475...42,541,954
Ensembl chr 8:42,416,475...42,541,926 		JBrowse link
G SLC6A8 solute carrier family 6 member 8 IAGP HPO ORPHA:52503 NCBI chr  X:153,687,926...153,696,593
Ensembl chr  X:153,687,926...153,696,588 		JBrowse link
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 IAGP HPO ORPHA:269 NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017 		JBrowse link
G SNCAIP synuclein alpha interacting protein IAGP HPO MIM:168600 NCBI chr 5:122,311,353...122,464,219
Ensembl chr 5:122,311,354...122,464,219 		JBrowse link
G TBP TATA-box binding protein IAGP HPO MIM:168600 NCBI chr 6:170,554,369...170,572,859
Ensembl chr 6:170,554,302...170,572,870 		JBrowse link
G TH tyrosine hydroxylase IAGP HPO MIM:605407 NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815 		JBrowse link
G TK2 thymidine kinase 2 IAGP HPO ORPHA:254886 NCBI chr16:66,508,003...66,550,291
Ensembl chr16:66,508,003...66,552,544 		JBrowse link
G TRIM32 tripartite motif containing 32 IAGP HPO ORPHA:1878 NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300 		JBrowse link
G UBA5 ubiquitin like modifier activating enzyme 5 IAGP HPO MIM:617132 NCBI chr 3:132,654,430...132,679,794
Ensembl chr 3:132,654,446...132,679,794 		JBrowse link
G UBE3A ubiquitin protein ligase E3A IAGP HPO ORPHA:238446 NCBI chr15:25,333,728...25,439,056
Ensembl chr15:25,333,728...25,439,051 		JBrowse link
G UFC1 ubiquitin-fold modifier conjugating enzyme 1 IAGP HPO MIM:618076 NCBI chr 1:161,153,978...161,158,856
Ensembl chr 1:161,152,776...161,158,856 		JBrowse link
G WRN WRN RecQ like helicase IAGP ClinVar Annotator: match by term: Mask-like facies ClinVar PMID:20443122 PMID:25741868 PMID:28492532 NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138 		JBrowse link
Myopathic facies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO MIM:161800 ORPHA:171433 ORPHA:2020 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G BCL11B BCL11 transcription factor B IAGP HPO MIM:617237 MIM:618092 NCBI chr14:99,169,287...99,272,197
Ensembl chr14:99,169,287...99,272,197 		JBrowse link
G CCDC174 coiled-coil domain containing 174 IAGP HPO MIM:616816 NCBI chr 3:14,651,762...14,672,655
Ensembl chr 3:14,651,762...14,672,659 		JBrowse link
G CERT1 ceramide transporter 1 IAGP HPO MIM:616351 NCBI chr 5:75,368,486...75,511,981
Ensembl chr 5:75,356,345...75,512,138 		JBrowse link
G COL25A1 collagen type XXV alpha 1 chain IAGP HPO ORPHA:1143 NCBI chr 4:108,808,725...109,302,658
Ensembl chr 4:108,808,725...109,302,752 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP ClinVar Annotator: match by term: Myopathic facial appearance
ClinVar Annotator: match by term: Myopathic facies		 ClinVar PMID:10090476 PMID:10607472 PMID:11257506 PMID:12673791 PMID:12707442 More... NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197 		JBrowse link
G CRELD1 cysteine rich with EGF like domains 1 IAGP HPO MIM:620771 NCBI chr 3:9,933,834...9,945,406
Ensembl chr 3:9,933,793...9,945,413 		JBrowse link
G DMXL2 Dmx like 2 IAGP HPO MIM:618663 NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833 		JBrowse link
G DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory IAGP HPO MIM:615042 ORPHA:329178 NCBI chr 9:127,935,099...127,937,854
Ensembl chr 9:127,935,099...127,937,854 		JBrowse link
G EBF3 EBF transcription factor 3 IAGP HPO MIM:617330 NCBI chr10:129,835,233...129,964,274
Ensembl chr10:129,835,233...129,973,053 		JBrowse link
G ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 IAGP HPO ORPHA:1143 NCBI chr 5:172,834,251...172,952,683
Ensembl chr 5:172,834,251...172,952,792 		JBrowse link
G GFM2 GTP dependent ribosome recycling factor mitochondrial 2 IAGP HPO MIM:618397 ORPHA:565624 NCBI chr 5:74,721,206...74,767,117
Ensembl chr 5:74,721,206...74,767,147 		JBrowse link
G GIPC1 GIPC PDZ domain containing family member 1 IAGP HPO ORPHA:98897 NCBI chr19:14,477,762...14,496,127
Ensembl chr19:14,477,760...14,496,149 		JBrowse link
G GLE1 GLE1 RNA export mediator IAGP HPO MIM:611890 NCBI chr 9:128,504,692...128,542,288
Ensembl chr 9:128,504,655...128,543,874 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP HPO MIM:615351 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973 		JBrowse link
G GOSR2 golgi SNAP receptor complex member 2 IAGP HPO MIM:620166 NCBI chr17:46,923,160...46,975,890
Ensembl chr17:46,923,075...46,975,524 		JBrowse link
G HACD1 3-hydroxyacyl-CoA dehydratase 1 IAGP HPO ORPHA:2020 NCBI chr10:17,589,032...17,617,374
Ensembl chr10:17,589,032...17,617,374 		JBrowse link
G HOXB1 homeobox B1 IAGP HPO MIM:614744 NCBI chr17:48,528,526...48,531,011
Ensembl chr17:48,528,526...48,531,011 		JBrowse link
G ITGA7 integrin subunit alpha 7 IAGP HPO ORPHA:2020 NCBI chr12:55,684,568...55,716,400
Ensembl chr12:55,684,568...55,716,404 		JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 IAGP HPO MIM:611816 ORPHA:420561 NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165 		JBrowse link
G KLHL41 kelch like family member 41 IAGP HPO ORPHA:171433 NCBI chr 2:169,509,702...169,526,258
Ensembl chr 2:169,509,702...169,526,258 		JBrowse link
G KNSTRN kinetochore localized astrin (SPAG5) binding protein IAGP HPO ORPHA:221139 NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,288 		JBrowse link
G LAMA2 laminin subunit alpha 2 IAGP HPO ORPHA:258 NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566 		JBrowse link
G LRP12 LDL receptor related protein 12 IAGP HPO MIM:164310 ORPHA:98897 NCBI chr 8:104,489,236...104,589,258
Ensembl chr 8:104,489,231...104,589,258 		JBrowse link
G MAP3K20 mitogen-activated protein kinase kinase kinase 20 IAGP HPO ORPHA:2020 NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,435...173,268,015 		JBrowse link
G MSTO1 misato mitochondrial distribution and morphology regulator 1 IAGP HPO MIM:617675 NCBI chr 1:155,563,246...155,614,967
Ensembl chr 1:155,563,235...155,614,951 		JBrowse link
G MYH2 myosin heavy chain 2 IAGP HPO MIM:605637 NCBI chr17:10,521,148...10,549,658
Ensembl chr17:10,521,148...10,549,700 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP HPO MIM:255160 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G MYL1 myosin light chain 1 IAGP HPO MIM:618414 NCBI chr 2:210,290,150...210,315,174
Ensembl chr 2:210,290,150...210,315,174 		JBrowse link
G MYL2 myosin light chain 2 IAGP HPO ORPHA:2020 NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,909,996...111,052,434 		JBrowse link
G NEB nebulin IAGP HPO MIM:256030 ORPHA:171433 NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487 		JBrowse link
G NOTCH2NLC notch 2 N-terminal like C IAGP HPO ORPHA:98897 NCBI chr 1:149,390,621...149,471,833
Ensembl chr 1:149,390,621...149,471,833 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO MIM:617146 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IAGP HPO ORPHA:221139 NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114 		JBrowse link
G PTRH2 peptidyl-tRNA hydrolase 2 IAGP HPO MIM:616263 NCBI chr17:59,697,308...59,707,430
Ensembl chr17:59,674,636...59,707,626 		JBrowse link
G PURA purine rich element binding protein A IAGP HPO MIM:616158 ORPHA:438216 NCBI chr 5:140,114,109...140,125,619
Ensembl chr 5:140,107,777...140,125,619 		JBrowse link
G PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 IAGP HPO MIM:617258 NCBI chr12:21,437,655...21,471,250
Ensembl chr12:21,437,615...21,471,250 		JBrowse link
G RILPL1 Rab interacting lysosomal protein like 1 IAGP HPO ORPHA:98897 NCBI chr12:123,470,054...123,533,719
Ensembl chr12:123,470,054...123,533,719 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP HPO MIM:255320 MIM:619542 ORPHA:324581 ORPHA:424107 ORPHA:98905 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G SCYL2 SCY1 like pseudokinase 2 IAGP HPO ORPHA:1143 NCBI chr12:100,267,177...100,341,715
Ensembl chr12:100,267,140...100,341,715 		JBrowse link
G SELENON selenoprotein N IAGP HPO ORPHA:2020 NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221 		JBrowse link
G SGCB sarcoglycan beta IAGP HPO ORPHA:119 NCBI chr 4:52,020,706...52,038,299
Ensembl chr 4:52,020,706...52,038,299 		JBrowse link
G SLC16A2 solute carrier family 16 member 2 IAGP HPO ORPHA:59 NCBI chr  X:74,421,493...74,533,916
Ensembl chr  X:74,421,493...74,533,917 		JBrowse link
G SLC52A3 solute carrier family 52 member 3 IAGP HPO MIM:211530 NCBI chr20:760,080...780,033
Ensembl chr20:760,080...776,015 		JBrowse link
G SLC6A8 solute carrier family 6 member 8 IAGP HPO MIM:300352 NCBI chr  X:153,687,926...153,696,593
Ensembl chr  X:153,687,926...153,696,588 		JBrowse link
G SLC6A9 solute carrier family 6 member 9 IAGP HPO MIM:617301 NCBI chr 1:43,996,483...44,031,462
Ensembl chr 1:43,991,500...44,031,467 		JBrowse link
G SLC9A7 solute carrier family 9 member A7 IAGP HPO MIM:301024 NCBI chr  X:46,599,251...46,759,118
Ensembl chr  X:46,599,251...46,759,118 		JBrowse link
G SPTBN4 spectrin beta, non-erythrocytic 4 IAGP HPO MIM:617519 NCBI chr19:40,467,001...40,576,464
Ensembl chr19:40,466,241...40,576,464 		JBrowse link
G STAC3 SH3 and cysteine rich domain 3 IAGP HPO MIM:255995 ORPHA:168572 NCBI chr12:57,243,458...57,251,187
Ensembl chr12:57,243,453...57,251,188 		JBrowse link
G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase IAGP HPO MIM:302060 NCBI chr  X:154,411,539...154,421,726
Ensembl chr  X:154,411,524...154,421,726 		JBrowse link
G TANGO2 transport and golgi organization 2 homolog IAGP HPO MIM:616878 NCBI chr22:20,017,023...20,067,164
Ensembl chr22:20,017,014...20,067,164 		JBrowse link
G TGM6 transglutaminase 6 IAGP ClinVar Annotator: match by term: Myopathic facial appearance ClinVar PMID:25741868 NCBI chr20:2,380,901...2,432,753
Ensembl chr20:2,380,901...2,432,753 		JBrowse link
G TNNT1 troponin T1, slow skeletal type IAGP HPO MIM:620389 NCBI chr19:55,132,698...55,149,206
Ensembl chr19:55,132,698...55,149,206 		JBrowse link
G TNPO2 transportin 2 IAGP HPO MIM:619556 NCBI chr19:12,699,201...12,723,932
Ensembl chr19:12,699,201...12,724,011 		JBrowse link
G TPM2 tropomyosin 2 IAGP HPO MIM:609285 ORPHA:2020 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G TPM3 tropomyosin 3 IAGP HPO ORPHA:171433 ORPHA:2020 NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648 		JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 IAGP HPO MIM:301830 ORPHA:1145 NCBI chr  X:47,190,847...47,215,128
Ensembl chr  X:47,190,861...47,215,128 		JBrowse link
G VAMP1 vesicle associated membrane protein 1 IAGP HPO MIM:618323 NCBI chr12:6,462,237...6,470,677
Ensembl chr12:6,462,237...6,470,677 		JBrowse link
G VPS41 VPS41 subunit of HOPS complex IAGP HPO MIM:619389 NCBI chr 7:38,722,974...38,909,191
Ensembl chr 7:38,722,974...38,932,394 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 74025
    Phenotypic abnormality 73720
      Abnormality of head or neck 5201
        Abnormality of the head 5172
          Abnormality of the face 4722
            Abnormal facial expression 191
              Decreased facial expression 157
                Fixed facial expression 2
                Hypomimic face 41
                Loss of facial expression 2
                Mask-like facies 59
                Myopathic facies 59
paths to the root