Term: Abnormality of the voice
Accession: HP:0001608
browse the term
Definition: Any abnormality of the voice.
Comment: This term describes any abnormality of the voice, i.e., of the sounds produced by humans by the passage of air through the larynx and over the vocal cords, and then modified by the resonance organs, the nasopharynx, and the mouth.
Synonyms: exact_synonym: Voice abnormality
xref: UMLS:C4021776
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ANOS1
anosmin 1
IAGP
HPO
ORPHA:478
NCBI chr X:8,528,874...8,732,137
Ensembl chr X:8,528,874...8,732,137
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B3GALNT2
beta-1,3-N-acetylgalactosaminyltransferase 2
IAGP
HPO
ORPHA:588
NCBI chr 1:235,439,796...235,504,452
Ensembl chr 1:235,447,190...235,504,452
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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
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BRAF
B-Raf proto-oncogene, serine/threonine kinase
IAGP
HPO
ORPHA:500
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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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
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CCDC141
coiled-coil domain containing 141
IAGP
HPO
ORPHA:478
NCBI chr 2:178,814,978...179,050,137
Ensembl chr 2:178,829,757...179,050,137
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CHD7
chromodomain helicase DNA binding protein 7
IAGP
HPO
ORPHA:432 ORPHA:478
NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
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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
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CRPPA
CDP-L-ribitol pyrophosphorylase A
IAGP
HPO
ORPHA:588
NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504
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CRTAP
cartilage associated protein
IAGP
HPO
ORPHA:2050
NCBI chr 3:33,114,014...33,147,773
Ensembl chr 3:33,114,014...33,147,773
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CTNND2
catenin delta 2
IAGP
HPO
ORPHA:281
NCBI chr 5:10,971,836...11,904,446
Ensembl chr 5:10,971,836...11,904,446
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DCC
DCC netrin 1 receptor
IAGP
HPO
ORPHA:478
NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,899
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DLEC1
DLEC1 cilia and flagella associated protein
IAGP
HPO
ORPHA:99977
NCBI chr 3:38,039,208...38,124,025
Ensembl chr 3:38,039,205...38,124,025
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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
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DUSP6
dual specificity phosphatase 6
IAGP
HPO
ORPHA:432 ORPHA:478
NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501
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EIF2AK2
eukaryotic translation initiation factor 2 alpha kinase 2
IAGP
HPO
ORPHA:256
NCBI chr 2:37,099,210...37,156,980
Ensembl chr 2:37,099,210...37,157,522
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EIF4A3
eukaryotic translation initiation factor 4A3
IAGP
HPO
MIM:268305
NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151
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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
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ELN
elastin
IAGP
HPO
ORPHA:904
NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
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FEZF1
FEZ family zinc finger 1
IAGP
HPO
ORPHA:478
NCBI chr 7:122,301,303...122,310,723
Ensembl chr 7:122,301,303...122,310,691
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FGF17
fibroblast growth factor 17
IAGP
HPO
ORPHA:432 ORPHA:478
NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809
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FGF8
fibroblast growth factor 8
IAGP
HPO
ORPHA:432 ORPHA:478
NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371
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FGFR1
fibroblast growth factor receptor 1
IAGP
HPO
ORPHA:432 ORPHA:478
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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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
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FKRP
fukutin related protein
IAGP
HPO
ORPHA:588
NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988
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FKTN
fukutin
IAGP
HPO
ORPHA:588
NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820
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FLRT3
fibronectin leucine rich transmembrane protein 3
IAGP
HPO
ORPHA:478
NCBI chr20:14,322,985...14,337,612
Ensembl chr20:14,322,985...14,337,614
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GMPPB
GDP-mannose pyrophosphorylase B
IAGP
HPO
ORPHA:588
NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973
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GNRH1
gonadotropin releasing hormone 1
IAGP
HPO
ORPHA:432
NCBI chr 8:25,419,258...25,425,040
Ensembl chr 8:25,419,258...25,424,654
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GNRHR
gonadotropin releasing hormone receptor
IAGP
HPO
ORPHA:432
NCBI chr 4:67,737,118...67,754,388
Ensembl chr 4:67,737,118...67,754,388
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GPC3
glypican 3
IAGP
HPO
ORPHA:373
NCBI chr X:133,535,745...133,985,594
Ensembl chr X:133,535,745...133,987,100
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GPC4
glypican 4
IAGP
HPO
ORPHA:373
NCBI chr X:133,300,103...133,415,489
Ensembl chr X:133,300,103...133,415,489
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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
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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
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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
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HESX1
HESX homeobox 1
IAGP
HPO
ORPHA:478
NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606
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HS6ST1
heparan sulfate 6-O-sulfotransferase 1
IAGP
HPO
ORPHA:432 ORPHA:478
NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868
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IL17RD
interleukin 17 receptor D
IAGP
HPO
ORPHA:478
NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306
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KISS1
KiSS-1 metastasis suppressor
IAGP
HPO
ORPHA:432
NCBI chr 1:204,190,341...204,196,491
Ensembl chr 1:204,190,341...204,196,491
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KISS1R
KISS1 receptor
IAGP
HPO
ORPHA:432
NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005
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LARGE1
LARGE xylosyl- and glucuronyltransferase 1
IAGP
HPO
ORPHA:588
NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841
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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
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LMNA
lamin A/C
IAGP
HPO
ORPHA:79474
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
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MED12
mediator complex subunit 12
IAGP
HPO
ORPHA:776
NCBI chr X:71,118,596...71,142,450
Ensembl chr X:71,118,543...71,144,103
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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
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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
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NDNF
neuron derived neurotrophic factor
IAGP
HPO
ORPHA:478
NCBI chr 4:121,035,613...121,072,535
Ensembl chr 4:121,035,613...121,073,021
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NHLH2
nescient helix-loop-helix 2
IAGP
HPO
ORPHA:432
NCBI chr 1:115,831,344...115,841,126
Ensembl chr 1:115,836,377...115,843,917
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NLRP3
NLR family pyrin domain containing 3
IAGP
HPO
ORPHA:575
NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108
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NOTCH2
notch receptor 2
IAGP
HPO
ORPHA:955
NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779
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NSMF
NMDA receptor synaptonuclear signaling and neuronal migration factor
IAGP
HPO
ORPHA:432
NCBI chr 9:137,447,570...137,459,334
Ensembl chr 9:137,447,570...137,459,334
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OCRL
OCRL inositol polyphosphate-5-phosphatase
IAGP
HPO
ORPHA:534
NCBI chr X:129,540,259...129,592,556
Ensembl chr X:129,539,849...129,592,561
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P4HB
prolyl 4-hydroxylase subunit beta
IAGP
HPO
ORPHA:2050
NCBI chr17:81,843,166...81,860,535
Ensembl chr17:81,843,159...81,860,856
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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
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PMP22
peripheral myelin protein 22
IAGP
HPO
ORPHA:640
NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292
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POMGNT1
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
IAGP
HPO
ORPHA:588
NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305
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POMT1
protein O-mannosyltransferase 1
IAGP
HPO
ORPHA:588
NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806
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POMT2
protein O-mannosyltransferase 2
IAGP
HPO
ORPHA:588
NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883
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PROK2
prokineticin 2
IAGP
HPO
ORPHA:432 ORPHA:478
NCBI chr 3:71,771,655...71,785,148
Ensembl chr 3:71,771,655...71,785,206
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PROKR2
prokineticin receptor 2
IAGP
HPO
ORPHA:432 ORPHA:478
NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954
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PTPN11
protein tyrosine phosphatase non-receptor type 11
IAGP
HPO
ORPHA:500
NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
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RAF1
Raf-1 proto-oncogene, serine/threonine kinase
IAGP
HPO
ORPHA:500
NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201
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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
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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
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RNF6
ring finger protein 6
IAGP
HPO
ORPHA:99977
NCBI chr13:26,132,115...26,223,085
Ensembl chr13:26,132,115...26,222,314
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SCN4A
sodium voltage-gated channel alpha subunit 4
IAGP
HPO
ORPHA:99735
NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918
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SEC24D
SEC24 homolog D, COPII coat complex component
IAGP
HPO
ORPHA:2050
NCBI chr 4:118,722,823...118,836,126
Ensembl chr 4:118,722,823...118,838,683
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SEMA3A
semaphorin 3A
IAGP
HPO
ORPHA:478
NCBI chr 7:83,955,777...84,492,725
Ensembl chr 7:83,955,777...84,492,724
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SEMA5A
semaphorin 5A
IAGP
HPO
ORPHA:281
NCBI chr 5:9,035,033...9,546,075
Ensembl chr 5:9,035,033...9,546,075
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SH3BP2
SH3 domain binding protein 2
IAGP
HPO
ORPHA:184
NCBI chr 4:2,793,085...2,841,096
Ensembl chr 4:2,793,023...2,841,291
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SHQ1
SHQ1, H/ACA ribonucleoprotein assembly factor
IAGP
HPO
ORPHA:256
NCBI chr 3:72,725,272...72,848,445
Ensembl chr 3:72,749,277...72,861,914
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SMAD4
SMAD family member 4
IAGP
HPO
MIM:139210
NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
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SOX10
SRY-box transcription factor 10
IAGP
HPO
ORPHA:478
NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422
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SPRY4
sprouty RTK signaling antagonist 4
IAGP
HPO
ORPHA:432 ORPHA:478
NCBI chr 5:142,310,430...142,325,021
Ensembl chr 5:142,310,427...142,326,455
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SRD5A2
steroid 5 alpha-reductase 2
IAGP
HPO
MIM:264600
NCBI chr 2:31,522,480...31,663,009
Ensembl chr 2:31,522,480...31,580,938
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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
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TAC3
tachykinin precursor 3
IAGP
HPO
ORPHA:432
NCBI chr12:57,010,000...57,016,529
Ensembl chr12:57,010,000...57,028,883
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TACR3
tachykinin receptor 3
IAGP
HPO
ORPHA:432 ORPHA:478
NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985
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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
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TGFBR2
transforming growth factor beta receptor 2
IAGP
HPO
ORPHA:99977
NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249
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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
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TOR1A
torsin family 1 member A
IAGP
HPO
ORPHA:256
NCBI chr 9:129,812,942...129,824,136
Ensembl chr 9:129,812,942...129,824,244
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TSPYL1
TSPY like 1
IAGP
HPO
MIM:608800 ORPHA:168593
NCBI chr 6:116,274,858...116,279,930
Ensembl chr 6:116,267,760...116,279,930
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UPF3B
UPF3B regulator of nonsense mediated mRNA decay
IAGP
HPO
ORPHA:776
NCBI chr X:119,805,311...119,852,963
Ensembl chr X:119,834,022...119,852,998
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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
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WDR11
WD repeat domain 11
IAGP
HPO
ORPHA:432 ORPHA:478
NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524
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WRN
WRN RecQ like helicase
IAGP
HPO
ORPHA:902
NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138
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WWOX
WW domain containing oxidoreductase
IAGP
HPO
ORPHA:99977
NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667
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ZDHHC9
zinc finger DHHC-type palmitoyltransferase 9
IAGP
HPO
ORPHA:776
NCBI chr X:129,803,288...129,843,886
Ensembl chr X:129,803,288...129,843,909
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TSHR
thyroid stimulating hormone receptor
IAGP
HPO
ORPHA:90673
NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306
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ZNF699
zinc finger protein 699
IAGP
HPO
MIM:619488
NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838
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DST
dystonin
IAGP
HPO
MIM:614653
NCBI chr 6:56,457,996...56,954,830
Ensembl chr 6:56,457,987...56,954,830
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CTNND2
catenin delta 2
IAGP
HPO
ORPHA:281
NCBI chr 5:10,971,836...11,904,446
Ensembl chr 5:10,971,836...11,904,446
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SEMA5A
semaphorin 5A
IAGP
HPO
ORPHA:281
NCBI chr 5:9,035,033...9,546,075
Ensembl chr 5:9,035,033...9,546,075
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VPS13B
vacuolar protein sorting 13 homolog B
IAGP
HPO
ORPHA:193
NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580
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AARS1
alanyl-tRNA synthetase 1
IAGP
HPO
ORPHA:33364
NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707
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ABCB7
ATP binding cassette subfamily B member 7
IAGP
HPO
MIM:301310
NCBI chr X:75,051,048...75,156,283
Ensembl chr X:75,051,048...75,156,732
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AGRN
agrin
IAGP
HPO
ORPHA:98914
NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,119
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ANG
angiogenin
IAGP
HPO
ORPHA:803
NCBI chr14:20,684,177...20,694,186
Ensembl chr14:20,684,177...20,698,971
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ANXA11
annexin A11
IAGP
HPO
ORPHA:803
NCBI chr10:80,150,889...80,205,808
Ensembl chr10:80,150,889...80,205,572
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AR
androgen receptor
IAGP
HPO
ORPHA:481
NCBI chr X:67,544,021...67,730,619
Ensembl chr X:67,544,021...67,730,619
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ASAH1
N-acylsphingosine amidohydrolase 1
IAGP
HPO
ORPHA:333
NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998
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ATXN2
ataxin 2
IAGP
HPO
ORPHA:803
NCBI chr12:111,452,214...111,599,673
Ensembl chr12:111,443,485...111,599,676
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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
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BIN1
bridging integrator 1
IAGP
HPO
MIM:255200 ORPHA:169186
NCBI chr 2:127,048,023...127,107,154
Ensembl chr 2:127,048,027...127,107,288
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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
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CAPN15
calpain 15
IAGP
HPO
MIM:619318
NCBI chr16:527,712...554,636
Ensembl chr16:527,712...554,636
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CARS1
cysteinyl-tRNA synthetase 1
IAGP
HPO
ORPHA:33364
NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613
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CCNF
cyclin F
IAGP
HPO
ORPHA:803
NCBI chr16:2,429,447...2,458,854
Ensembl chr16:2,429,394...2,458,854
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CFAP410
cilia and flagella associated protein 410
IAGP
HPO
ORPHA:803
NCBI chr21:44,328,944...44,339,390
Ensembl chr21:44,328,944...44,339,402
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CHAT
choline O-acetyltransferase
IAGP
HPO
ORPHA:98914
NCBI chr10:49,609,095...49,667,942
Ensembl chr10:49,609,095...49,667,942
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CHCHD10
coiled-coil-helix-coiled-coil-helix domain containing 10
IAGP
HPO
ORPHA:803
NCBI chr22:23,765,834...23,767,972
Ensembl chr22:23,765,834...23,767,972
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CHMP2B
charged multivesicular body protein 2B
IAGP
HPO
ORPHA:803
NCBI chr 3:87,227,309...87,255,556
Ensembl chr 3:87,227,271...87,255,556
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CIZ1
CDKN1A interacting zinc finger protein 1
IAGP
HPO
ORPHA:420492
NCBI chr 9:128,166,065...128,204,222
Ensembl chr 9:128,161,251...128,204,383
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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
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COL13A1
collagen type XIII alpha 1 chain
IAGP
HPO
ORPHA:98914
NCBI chr10:69,801,906...69,959,144
Ensembl chr10:69,801,880...69,964,275
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COQ2
coenzyme Q2, polyprenyltransferase
IAGP
HPO
ORPHA:227510
NCBI chr 4:83,263,824...83,285,134
Ensembl chr 4:83,261,536...83,284,914
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CRYAB
crystallin alpha B
IAGP
HPO
ORPHA:399058
NCBI chr11:111,908,564...111,923,740
Ensembl chr11:111,908,564...111,923,722
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DAO
D-amino acid oxidase
IAGP
HPO
ORPHA:803
NCBI chr12:108,880,092...108,901,043
Ensembl chr12:108,858,932...108,901,043
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DCTN1
dynactin subunit 1
IAGP
HPO
ORPHA:803
NCBI chr 2:74,361,155...74,391,866
Ensembl chr 2:74,361,154...74,392,087
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DGUOK
deoxyguanosine kinase
IAGP
HPO
MIM:617070 ORPHA:329314
NCBI chr 2:73,926,880...73,958,946
Ensembl chr 2:73,926,826...73,958,961
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DLST
dihydrolipoamide S-succinyltransferase
IAGP
HPO
ORPHA:29072
NCBI chr14:74,881,916...74,903,743
Ensembl chr14:74,881,891...74,903,743
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DNAJB2
DnaJ heat shock protein family (Hsp40) member B2
IAGP
HPO
MIM:614881
NCBI chr 2:219,279,366...219,286,895
Ensembl chr 2:219,279,342...219,286,898
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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
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DNMT3A
DNA methyltransferase 3 alpha
IAGP
HPO
ORPHA:276621
NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590
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EDA
ectodysplasin A
IAGP
HPO
MIM:305100
NCBI chr X:69,616,113...70,039,472
Ensembl chr X:69,616,067...70,039,472
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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
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ELN
elastin
IAGP
HPO
ORPHA:904
NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
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EPAS1
endothelial PAS domain protein 1
IAGP
HPO
ORPHA:276621
NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697
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ERBB4
erb-b2 receptor tyrosine kinase 4
IAGP
HPO
ORPHA:803
NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841
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ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit
IAGP
HPO
ORPHA:33364
NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
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ERCC3
ERCC excision repair 3, TFIIH core complex helicase subunit
IAGP
HPO
ORPHA:33364
NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166
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FH
fumarate hydratase
IAGP
HPO
ORPHA:29072
NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799
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FIG4
FIG4 phosphoinositide 5-phosphatase
IAGP
HPO
ORPHA:803
NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098
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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
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FTL
ferritin light chain
IAGP
HPO
MIM:606159 ORPHA:157846
NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,967,896
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FUS
FUS RNA binding protein
IAGP
HPO
ORPHA:803
NCBI chr16:31,180,110...31,194,871
Ensembl chr16:31,180,138...31,196,963
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FXN
frataxin
IAGP
HPO
ORPHA:95
NCBI chr 9:69,035,752...69,079,076
Ensembl chr 9:69,035,751...69,079,076
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GFAP
glial fibrillary acidic protein
IAGP
HPO
ORPHA:363722
NCBI chr17:44,903,159...44,915,500
Ensembl chr17:44,903,159...44,916,937
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GLE1
GLE1 RNA export mediator
IAGP
HPO
ORPHA:803
NCBI chr 9:128,504,692...128,542,288
Ensembl chr 9:128,504,655...128,543,874
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GLT8D1
glycosyltransferase 8 domain containing 1
IAGP
HPO
ORPHA:803
NCBI chr 3:52,694,486...52,705,791
Ensembl chr 3:52,694,486...52,706,032
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GNAL
G protein subunit alpha L
IAGP
HPO
MIM:615073
NCBI chr18:11,689,264...11,885,685
Ensembl chr18:11,689,264...11,885,685
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GTF2E2
general transcription factor IIE subunit 2
IAGP
HPO
ORPHA:33364
NCBI chr 8:30,578,318...30,658,236
Ensembl chr 8:30,578,318...30,658,236
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GTF2H5
general transcription factor IIH subunit 5
IAGP
HPO
ORPHA:33364
NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344
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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
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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
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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
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HK1
hexokinase 1
IAGP
HPO
MIM:605285
NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884
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HNRNPA1
heterogeneous nuclear ribonucleoprotein A1
IAGP
HPO
ORPHA:803
NCBI chr12:54,280,726...54,287,087
Ensembl chr12:54,280,193...54,287,088
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HNRNPA2B1
heterogeneous nuclear ribonucleoprotein A2/B1
IAGP
HPO
MIM:620460
NCBI chr 7:26,189,927...26,200,746
Ensembl chr 7:26,171,151...26,201,529
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HSPG2
heparan sulfate proteoglycan 2
IAGP
HPO
ORPHA:800
NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
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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
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KCTD17
potassium channel tetramerization domain containing 17
IAGP
HPO
MIM:616398
NCBI chr22:37,051,742...37,063,390
Ensembl chr22:37,051,739...37,063,390
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KIF1B
kinesin family member 1B
IAGP
HPO
ORPHA:29072
NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603
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KMT2B
lysine methyltransferase 2B
IAGP
HPO
MIM:617284 ORPHA:589618
NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880
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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
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LRP12
LDL receptor related protein 12
IAGP
HPO
MIM:164310
NCBI chr 8:104,489,236...104,589,258
Ensembl chr 8:104,489,231...104,589,258
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MATR3
matrin 3
IAGP
HPO
ORPHA:803
NCBI chr 5:139,274,101...139,331,677
Ensembl chr 5:139,273,752...139,331,671 Ensembl chr 5:139,273,752...139,331,671
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MAX
MYC associated factor X
IAGP
HPO
ORPHA:29072
NCBI chr14:65,006,101...65,102,695
Ensembl chr14:65,006,174...65,102,695
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MDH2
malate dehydrogenase 2
IAGP
HPO
ORPHA:29072
NCBI chr 7:76,048,106...76,067,508
Ensembl chr 7:76,048,051...76,067,508
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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
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MFN2
mitofusin 2
IAGP
HPO
ORPHA:99947
NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211
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MGME1
mitochondrial genome maintenance exonuclease 1
IAGP
HPO
MIM:615084 ORPHA:352447
NCBI chr20:17,968,590...17,991,122
Ensembl chr20:17,969,018...17,991,122
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MPLKIP
M-phase specific PLK1 interacting protein
IAGP
HPO
ORPHA:33364
NCBI chr 7:40,126,027...40,134,622
Ensembl chr 7:40,126,027...40,134,622
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MYO9A
myosin IXA
IAGP
HPO
ORPHA:98914
NCBI chr15:71,822,291...72,118,600
Ensembl chr15:71,822,291...72,118,577
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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
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NEFH
neurofilament heavy chain
IAGP
HPO
ORPHA:803
NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390
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NEK1
NIMA related kinase 1
IAGP
HPO
ORPHA:803
NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632
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NEU1
neuraminidase 1
IAGP
HPO
ORPHA:93399
NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,063...31,862,905
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NF1
neurofibromin 1
IAGP
HPO
ORPHA:29072
NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
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NKX2-5
NK2 homeobox 5
IAGP
HPO
ORPHA:95712
NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311
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OPTN
optineurin
IAGP
HPO
ORPHA:803
NCBI chr10:13,100,082...13,138,308
Ensembl chr10:13,099,449...13,138,308
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PABPN1
poly(A) binding protein nuclear 1
IAGP
HPO
ORPHA:270
NCBI chr14:23,321,457...23,326,163
Ensembl chr14:23,321,457...23,326,163
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PANK2
pantothenate kinase 2
IAGP
HPO
MIM:234200
NCBI chr20:3,888,781...3,929,887
Ensembl chr20:3,888,839...3,929,887
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PAX8
paired box 8
IAGP
HPO
ORPHA:95712
NCBI chr 2:113,215,997...113,278,921
Ensembl chr 2:113,215,997...113,278,921
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PFN1
profilin 1
IAGP
HPO
ORPHA:803
NCBI chr17:4,945,652...4,948,530
Ensembl chr17:4,945,652...4,949,061
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PLIN4
perilipin 4
IAGP
HPO
MIM:601846
NCBI chr19:4,502,192...4,518,486
Ensembl chr19:4,502,192...4,518,486
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POLG
DNA polymerase gamma, catalytic subunit
IAGP
HPO
MIM:258450
NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
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PON1
paraoxonase 1
IAGP
HPO
ORPHA:803
NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
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PON2
paraoxonase 2
IAGP
HPO
ORPHA:803
NCBI chr 7:95,404,862...95,435,028
Ensembl chr 7:95,404,862...95,435,329
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PON3
paraoxonase 3
IAGP
HPO
ORPHA:803
NCBI chr 7:95,359,872...95,396,375
Ensembl chr 7:95,359,872...95,396,375
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PPARGC1A
PPARG coactivator 1 alpha
IAGP
HPO
ORPHA:803
NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089
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PRKRA
protein activator of interferon induced protein kinase EIF2AK2
IAGP
HPO
MIM:612067 ORPHA:210571
NCBI chr 2:178,431,414...178,451,175
Ensembl chr 2:178,431,292...178,451,512
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PRPH
peripherin
IAGP
HPO
ORPHA:803
NCBI chr12:49,295,147...49,298,686
Ensembl chr12:49,295,147...49,298,686
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RET
ret proto-oncogene
IAGP
HPO
ORPHA:276621 ORPHA:29072
NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
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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
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RNASEH1
ribonuclease H1
IAGP
HPO
MIM:616479
NCBI chr 2:3,531,813...3,558,333
Ensembl chr 2:3,541,430...3,558,333
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RNF113A
ring finger protein 113A
IAGP
HPO
ORPHA:33364
NCBI chr X:119,870,475...119,871,733
Ensembl chr X:119,870,475...119,871,733
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RRM2B
ribonucleotide reductase regulatory TP53 inducible subunit M2B
IAGP
HPO
MIM:613077
NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961
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RYR1
ryanodine receptor 1
IAGP
HPO
ORPHA:169186
NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
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SBF2
SET binding factor 2
IAGP
HPO
ORPHA:99956
NCBI chr11:9,778,668...10,304,841
Ensembl chr11:9,776,776...10,304,877
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SDHA
succinate dehydrogenase complex flavoprotein subunit A
IAGP
HPO
ORPHA:29072
NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082
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SDHAF2
succinate dehydrogenase complex assembly factor 2
IAGP
HPO
ORPHA:29072
NCBI chr11:61,430,124...61,446,733
Ensembl chr11:61,430,042...61,446,839
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SDHB
succinate dehydrogenase complex iron sulfur subunit B
IAGP
HPO
ORPHA:276621 ORPHA:29072
NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151
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SDHC
succinate dehydrogenase complex subunit C
IAGP
HPO
ORPHA:29072
NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206
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SDHD
succinate dehydrogenase complex subunit D
IAGP
HPO
ORPHA:276621 ORPHA:29072
NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016
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SIL1
SIL1 nucleotide exchange factor
IAGP
HPO
ORPHA:559
NCBI chr 5:138,946,724...139,198,368
Ensembl chr 5:138,946,724...139,293,557
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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
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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
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SLC25A11
solute carrier family 25 member 11
IAGP
HPO
ORPHA:29072
NCBI chr17:4,937,130...4,940,046
Ensembl chr17:4,937,130...4,940,053
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SLC5A7
solute carrier family 5 member 7
IAGP
HPO
MIM:617143 ORPHA:98914
NCBI chr 2:107,986,524...108,013,994
Ensembl chr 2:107,986,523...108,013,994
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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
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SOD1
superoxide dismutase 1
IAGP
HPO
ORPHA:803
NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
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SPEG
striated muscle enriched protein kinase
IAGP
HPO
ORPHA:169186
NCBI chr 2:219,434,843...219,493,629
Ensembl chr 2:219,434,843...219,493,629
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SQSTM1
sequestosome 1
IAGP
HPO
ORPHA:803
NCBI chr 5:179,806,393...179,838,078
Ensembl chr 5:179,806,398...179,838,078
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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
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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
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TAF15
TATA-box binding protein associated factor 15
IAGP
HPO
ORPHA:803
NCBI chr17:35,809,484...35,847,242
Ensembl chr17:35,809,482...35,864,615
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TARDBP
TAR DNA binding protein
IAGP
HPO
ORPHA:803
NCBI chr 1:11,012,654...11,030,528
Ensembl chr 1:11,012,344...11,030,528
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TARS1
threonyl-tRNA synthetase 1
IAGP
HPO
ORPHA:33364
NCBI chr 5:33,440,696...33,468,091
Ensembl chr 5:33,440,696...33,468,091
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TBK1
TANK binding kinase 1
IAGP
HPO
ORPHA:803
NCBI chr12:64,452,120...64,502,114
Ensembl chr12:64,452,090...64,502,114
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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
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THAP1
THAP domain containing 1
IAGP
HPO
MIM:602629
NCBI chr 8:42,836,674...42,843,325
Ensembl chr 8:42,836,674...42,843,325
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TMEM127
transmembrane protein 127
IAGP
HPO
ORPHA:29072
NCBI chr 2:96,248,514...96,265,997
Ensembl chr 2:96,248,500...96,266,047
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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
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TPK1
thiamin pyrophosphokinase 1
IAGP
HPO
MIM:614458
NCBI chr 7:144,451,941...144,836,437
Ensembl chr 7:144,451,941...144,836,395
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TREM2
triggering receptor expressed on myeloid cells 2
IAGP
HPO
ORPHA:803
NCBI chr 6:41,158,508...41,163,116
Ensembl chr 6:41,158,506...41,163,186
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TTC19
tetratricopeptide repeat domain 19
IAGP
HPO
MIM:615157
NCBI chr17:15,999,824...16,045,015
Ensembl chr17:15,999,784...16,045,015
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TTN
titin
IAGP
HPO
ORPHA:169186
NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
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TUBB4A
tubulin beta 4A class IVa
IAGP
HPO
MIM:128101 ORPHA:98805
NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848
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TWNK
twinkle mtDNA helicase
IAGP
ClinVar Annotator: match by term: Dysphonia
HPO ClinVar
PMID:11431692 PMID:16639411 PMID:17272269 PMID:17620490 PMID:18279890 PMID:18971204 PMID:19513767 PMID:20479361 PMID:20659899 PMID:20880070 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28812649 PMID:32161153 PMID:35289132 More...
MIM:609286
NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403
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UBQLN2
ubiquilin 2
IAGP
HPO
ORPHA:803
NCBI chr X:56,563,627...56,567,868
Ensembl chr X:56,563,627...56,567,868
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UNC13A
unc-13 homolog A
IAGP
HPO
ORPHA:803
NCBI chr19:17,601,336...17,688,354
Ensembl chr19:17,601,336...17,688,365
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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
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VAPB
VAMP associated protein B and C
IAGP
HPO
ORPHA:803
NCBI chr20:58,389,229...58,451,101
Ensembl chr20:58,389,229...58,451,101
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VCP
valosin containing protein
IAGP
HPO
ORPHA:803
NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668
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VHL
von Hippel-Lindau tumor suppressor
IAGP
HPO
ORPHA:276621 ORPHA:29072
NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676
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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
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ABAT
4-aminobutyrate aminotransferase
IAGP
HPO
MIM:613163
NCBI chr16:8,674,617...8,784,570
Ensembl chr16:8,674,596...8,784,575
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ALPL
alkaline phosphatase, biomineralization associated
IAGP
HPO
MIM:241500
NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410
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ATP1A3
ATPase Na+/K+ transporting subunit alpha 3
IAGP
HPO
MIM:619606
NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497
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ATP5F1A
ATP synthase F1 subunit alpha
IAGP
HPO
MIM:615228
NCBI chr18:46,080,248...46,104,227
Ensembl chr18:46,080,248...46,104,334
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FIG4
FIG4 phosphoinositide 5-phosphatase
IAGP
HPO
MIM:216340
NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098
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MECP2
methyl-CpG binding protein 2
IAGP
HPO
ORPHA:778
NCBI chr X:154,021,573...154,097,717
Ensembl chr X:154,021,573...154,137,103
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PNPO
pyridoxamine 5'-phosphate oxidase
IAGP
HPO
ORPHA:79096
NCBI chr17:47,941,571...47,949,308
Ensembl chr17:47,941,506...47,949,308
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ASAH1
N-acylsphingosine amidohydrolase 1
IAGP
HPO
MIM:228000 ORPHA:333
NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998
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DLK1
delta like non-canonical Notch ligand 1
IAGP
HPO
ORPHA:96334
NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224
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DUOX2
dual oxidase 2
IAGP
HPO
ORPHA:226316
NCBI chr15:45,092,650...45,114,172
Ensembl chr15:45,092,650...45,114,172
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EZH2
enhancer of zeste 2 polycomb repressive complex 2 subunit
IAGP
HPO
MIM:277590
NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321
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FOXE1
forkhead box E1
IAGP
HPO
ORPHA:95713
NCBI chr 9:97,853,226...97,856,717
Ensembl chr 9:97,853,226...97,856,717
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KRT14
keratin 14
IAGP
HPO
MIM:131760
NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
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KRT5
keratin 5
IAGP
HPO
MIM:131760
NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
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LAMA3
laminin subunit alpha 3
IAGP
HPO
MIM:245660 ORPHA:79404
NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222
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LAMB3
laminin subunit beta 3
IAGP
HPO
ORPHA:79404
NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425
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LAMC2
laminin subunit gamma 2
IAGP
HPO
ORPHA:79404
NCBI chr 1:183,186,264...183,258,968
Ensembl chr 1:183,186,238...183,245,127
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LTBP4
latent transforming growth factor beta binding protein 4
IAGP
HPO
MIM:613177
NCBI chr19:40,593,166...40,629,820
Ensembl chr19:40,592,883...40,629,818
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MEG3
maternally expressed 3
IAGP
HPO
ORPHA:96334
NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,206...100,861,031
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NKX2-1
NK2 homeobox 1
IAGP
HPO
ORPHA:95713
NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149
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NKX2-5
NK2 homeobox 5
IAGP
HPO
ORPHA:95713
NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311
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PAX8
paired box 8
IAGP
HPO
MIM:218700 ORPHA:95713
NCBI chr 2:113,215,997...113,278,921
Ensembl chr 2:113,215,997...113,278,921
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PIGN
phosphatidylinositol glycan anchor biosynthesis class N
IAGP
HPO
ORPHA:280633
NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118
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RTL1
retrotransposon Gag like 1
IAGP
HPO
ORPHA:96334
NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722
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SLC26A4
solute carrier family 26 member 4
IAGP
HPO
ORPHA:95713
NCBI chr 7:107,660,828...107,717,809
Ensembl chr 7:107,660,828...107,717,809
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TSHB
thyroid stimulating hormone subunit beta
IAGP
HPO
MIM:275100 ORPHA:90674
NCBI chr 1:115,029,826...115,034,309
Ensembl chr 1:115,029,826...115,034,302
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TSHR
thyroid stimulating hormone receptor
IAGP
HPO
ORPHA:95713
NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306
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ACAN
aggrecan
IAGP
HPO
MIM:612813 ORPHA:171866
NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353
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ACTA1
actin alpha 1, skeletal muscle
IAGP
HPO
ORPHA:2020
NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104
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ADAR
adenosine deaminase RNA specific
IAGP
HPO
ORPHA:51
NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013
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AFF2
ALF transcription elongation factor 2
IAGP
HPO
MIM:309548 ORPHA:100973
NCBI chr X:148,500,617...149,000,663
Ensembl chr X:148,500,617...149,000,663
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AGA
aspartylglucosaminidase
IAGP
HPO
MIM:208400
NCBI chr 4:177,430,774...177,442,437
Ensembl chr 4:177,430,774...177,442,437
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AIP
aryl hydrocarbon receptor interacting protein
IAGP
HPO
ORPHA:963
NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154
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APOA1
apolipoprotein A1
IAGP
HPO
MIM:620657
NCBI chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622
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ARID1B
AT-rich interaction domain 1B
IAGP
HPO
MIM:135900
NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
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ASAH1
N-acylsphingosine amidohydrolase 1
IAGP
HPO
MIM:228000 ORPHA:2590 ORPHA:333
NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998
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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
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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
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C1R
complement C1r
IAGP
HPO
MIM:130080
NCBI chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540
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CDC73
cell division cycle 73
IAGP
HPO
ORPHA:143
NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,983...193,254,815
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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
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DDRGK1
DDRGK domain containing 1
IAGP
HPO
MIM:602557 ORPHA:93352
NCBI chr20:3,190,350...3,204,682
Ensembl chr20:3,190,350...3,204,685
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DEAF1
DEAF1 transcription factor
IAGP
HPO
ORPHA:819
NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118
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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
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ECM1
extracellular matrix protein 1
IAGP
HPO
MIM:247100 ORPHA:530
NCBI chr 1:150,508,109...150,513,789
Ensembl chr 1:150,508,062...150,513,789
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EDA
ectodysplasin A
IAGP
HPO
MIM:305100
NCBI chr X:69,616,113...70,039,472
Ensembl chr X:69,616,067...70,039,472
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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
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ELN
elastin
IAGP
HPO
MIM:194050 ORPHA:904
NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
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EZH2
enhancer of zeste 2 polycomb repressive complex 2 subunit
IAGP
HPO
ORPHA:3447
NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321
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FBN1
fibrillin 1
IAGP
HPO
MIM:102370 ORPHA:969
NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
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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
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FLII
FLII actin remodeling protein
IAGP
HPO
ORPHA:819
NCBI chr17:18,244,815...18,259,022
Ensembl chr17:18,244,815...18,258,738
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FLNA
filamin A
IAGP
HPO
MIM:309350
NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634
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GDAP1
ganglioside induced differentiation associated protein 1
IAGP
HPO
MIM:607706 ORPHA:101097 ORPHA:99948
NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007
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GNE
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
IAGP
HPO
ORPHA:3166
NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042
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GNPTAB
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
IAGP
HPO
MIM:252500 ORPHA:423461 ORPHA:576
NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959
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GPC3
glypican 3
IAGP
HPO
ORPHA:373
NCBI chr X:133,535,745...133,985,594
Ensembl chr X:133,535,745...133,987,100
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GPC4
glypican 4
IAGP
HPO
ORPHA:2662 ORPHA:373
NCBI chr X:133,300,103...133,415,489
Ensembl chr X:133,300,103...133,415,489
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GPR101
G protein-coupled receptor 101
IAGP
HPO
ORPHA:963
NCBI chr X:137,023,929...137,033,995
Ensembl chr X:137,023,929...137,033,995
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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
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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
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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
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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
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HRAS
HRas proto-oncogene, GTPase
IAGP
HPO
MIM:218040
NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
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IDS
iduronate 2-sulfatase
IAGP
HPO
MIM:309900 ORPHA:217085 ORPHA:217093
NCBI chr X:149,476,988...149,505,306
Ensembl chr X:149,476,988...149,521,096
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IFIH1
interferon induced with helicase C domain 1
IAGP
HPO
ORPHA:51
NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
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IQSEC2
IQ motif and Sec7 domain ArfGEF 2
IAGP
HPO
ORPHA:217377 ORPHA:819
NCBI chr X:53,225,813...53,321,350
Ensembl chr X:53,225,828...53,321,350
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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
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KRT14
keratin 14
IAGP
HPO
MIM:131760 ORPHA:79396
NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
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KRT16
keratin 16
IAGP
HPO
ORPHA:2309
NCBI chr17:41,609,778...41,612,767
Ensembl chr17:41,609,778...41,615,899
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KRT17
keratin 17
IAGP
HPO
MIM:167210 ORPHA:2309
NCBI chr17:41,619,442...41,624,575
Ensembl chr17:41,619,442...41,624,842
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KRT5
keratin 5
IAGP
HPO
MIM:131760 ORPHA:79396
NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
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KRT6A
keratin 6A
IAGP
HPO
ORPHA:2309
NCBI chr12:52,487,176...52,493,257
Ensembl chr12:52,487,176...52,493,257
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KRT6B
keratin 6B
IAGP
HPO
ORPHA:2309
NCBI chr12:52,446,651...52,452,146
Ensembl chr12:52,446,651...52,452,146
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LAMA3
laminin subunit alpha 3
IAGP
HPO
ORPHA:79404
NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222
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LAMB3
laminin subunit beta 3
IAGP
HPO
ORPHA:79404
NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425
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LAMC2
laminin subunit gamma 2
IAGP
HPO
ORPHA:79404
NCBI chr 1:183,186,264...183,258,968
Ensembl chr 1:183,186,238...183,245,127
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LEMD3
LEM domain containing 3
IAGP
HPO
MIM:166700
NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355
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LIFR
LIF receptor subunit alpha
IAGP
HPO
MIM:601559
NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354
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LIG4
DNA ligase 4
IAGP
HPO
ORPHA:235
NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368
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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
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LSM11
LSM11, U7 small nuclear RNA associated
IAGP
HPO
ORPHA:51
NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709
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LTBP3
latent transforming growth factor beta binding protein 3
IAGP
HPO
MIM:617809 ORPHA:969
NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930
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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
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MAPK1
mitogen-activated protein kinase 1
IAGP
HPO
MIM:619087
NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
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MATR3
matrin 3
IAGP
HPO
MIM:606070 ORPHA:600
NCBI chr 5:139,274,101...139,331,677
Ensembl chr 5:139,273,752...139,331,671 Ensembl chr 5:139,273,752...139,331,671
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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
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MFN2
mitofusin 2
IAGP
HPO
ORPHA:99947
NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211
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MID1
midline 1
IAGP
HPO
MIM:300000
NCBI chr X:10,445,310...10,833,683
Ensembl chr X:10,445,310...10,833,654
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MLXIPL
MLX interacting protein like
IAGP
HPO
MIM:194050
NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543
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MYH14
myosin heavy chain 14
IAGP
HPO
MIM:614369 ORPHA:397744
NCBI chr19:50,203,622...50,310,540
Ensembl chr19:50,188,186...50,310,542
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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
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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
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NFE2L2
NFE2 like bZIP transcription factor 2
IAGP
HPO
MIM:617744
NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756
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NKX2-5
NK2 homeobox 5
IAGP
HPO
ORPHA:95712
NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311
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NLRP1
NLR family pyrin domain containing 1
IAGP
HPO
MIM:618803
NCBI chr17:5,501,396...5,584,509
Ensembl chr17:5,499,415...5,619,424
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NSD1
nuclear receptor binding SET domain protein 1
IAGP
HPO
ORPHA:3447
NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
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NSUN2
NOP2/Sun RNA methyltransferase 2
IAGP
HPO
ORPHA:235
NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291
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PAX8
paired box 8
IAGP
HPO
ORPHA:95712
NCBI chr 2:113,215,997...113,278,921
Ensembl chr 2:113,215,997...113,278,921
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POU1F1
POU class 1 homeobox 1
IAGP
HPO
MIM:613038
NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584
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PPP3CA
protein phosphatase 3 catalytic subunit alpha
IAGP
HPO
MIM:617711
NCBI chr 4:101,023,418...101,347,526
Ensembl chr 4:101,023,409...101,348,278
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RAI1
retinoic acid induced 1
IAGP
HPO
MIM:182290 ORPHA:819
NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453
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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
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RNASEH2A
ribonuclease H2 subunit A
IAGP
HPO
ORPHA:51
NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640
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RNASEH2B
ribonuclease H2 subunit B
IAGP
HPO
ORPHA:51
NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120
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RNASEH2C
ribonuclease H2 subunit C
IAGP
HPO
ORPHA:51
NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818
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RNU7-1
RNA, U7 small nuclear 1
IAGP
HPO
ORPHA:51
NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878
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SAMHD1
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
IAGP
HPO
ORPHA:51
NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893
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SDHAF2
succinate dehydrogenase complex assembly factor 2
IAGP
HPO
MIM:601650
NCBI chr11:61,430,124...61,446,733
Ensembl chr11:61,430,042...61,446,839
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SDHC
succinate dehydrogenase complex subunit C
IAGP
HPO
MIM:605373
NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206
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SDHD
succinate dehydrogenase complex subunit D
IAGP
HPO
MIM:168000
NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016
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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
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SERPING1
serpin family G member 1
IAGP
HPO
ORPHA:100050
NCBI chr11:57,597,685...57,614,848
Ensembl chr11:57,597,387...57,619,171
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SHOC2
SHOC2 leucine rich repeat scaffold protein
IAGP
HPO
MIM:607721
NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,919,367...111,017,307
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SLC19A2
solute carrier family 19 member 2
IAGP
HPO
MIM:249270
NCBI chr 1:169,463,909...169,485,970
Ensembl chr 1:169,463,909...169,485,944
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SLC26A2
solute carrier family 26 member 2
IAGP
associated with Diastrophic Dysplasia;DNA:mutations:css:p.R279W, p.R178X, p.N425D,c.727-1G>C (human)
HPO RGD
PMID:21155763
MIM:222600 , RGD:11072411
NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
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SMS
spermine synthase
IAGP
HPO
MIM:309583
NCBI chr X:21,940,709...21,994,837
Ensembl chr X:21,940,709...21,994,837
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SPART
spartin
IAGP
HPO
ORPHA:101000
NCBI chr13:36,301,638...36,370,180
Ensembl chr13:36,301,638...36,370,180
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SPTBN1
spectrin beta, non-erythrocytic 1
IAGP
HPO
MIM:619475
NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446
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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
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SUZ12
SUZ12 polycomb repressive complex 2 subunit
IAGP
HPO
ORPHA:3447
NCBI chr17:31,937,007...32,001,038
Ensembl chr17:31,937,007...32,001,045
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TBC1D2B
TBC1 domain family member 2B
IAGP
HPO
ORPHA:397973
NCBI chr15:77,994,985...78,077,711
Ensembl chr15:77,984,036...78,077,724
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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
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THRA
thyroid hormone receptor alpha
IAGP
HPO
MIM:614450
NCBI chr17:40,062,193...40,093,867
Ensembl chr17:40,058,290...40,093,867
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TLK2
tousled like kinase 2
IAGP
HPO
MIM:618050
NCBI chr17:62,470,914...62,615,481
Ensembl chr17:62,458,658...62,615,481
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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
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TPM2
tropomyosin 2
IAGP
HPO
ORPHA:2020
NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056
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TPM3
tropomyosin 3
IAGP
HPO
ORPHA:2020
NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648
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TREX1
three prime repair exonuclease 1
IAGP
HPO
ORPHA:51
NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
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TRH
thyrotropin releasing hormone
IAGP
HPO
MIM:275120
NCBI chr 3:129,974,720...129,977,935
Ensembl chr 3:129,974,688...129,977,935
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TRHR
thyrotropin releasing hormone receptor
IAGP
HPO
ORPHA:99832
NCBI chr 8:109,086,585...109,121,565
Ensembl chr 8:109,086,585...109,121,565
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TRPV4
transient receptor potential cation channel subfamily V member 4
IAGP
HPO
MIM:181405
NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
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TSHB
thyroid stimulating hormone subunit beta
IAGP
HPO
ORPHA:90674
NCBI chr 1:115,029,826...115,034,309
Ensembl chr 1:115,029,826...115,034,302
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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
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AAAS
aladin WD repeat nucleoporin
IAGP
HPO
ORPHA:869
NCBI chr12:53,307,460...53,321,610
Ensembl chr12:53,307,456...53,324,864
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AGRN
agrin
IAGP
HPO
ORPHA:98914
NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,119
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AMER1
APC membrane recruitment protein 1
IAGP
HPO
MIM:300373
NCBI chr X:64,185,117...64,205,708
Ensembl chr X:64,185,117...64,205,708
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ARHGAP29
Rho GTPase activating protein 29
IAGP
HPO
ORPHA:199306
NCBI chr 1:94,168,905...94,314,592
Ensembl chr 1:94,148,988...94,275,068
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ARHGEF38
Rho guanine nucleotide exchange factor 38
IAGP
HPO
ORPHA:199306
NCBI chr 4:105,552,620...105,682,566
Ensembl chr 4:105,552,620...105,708,093
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ARVCF
ARVCF delta catenin family member
IAGP
HPO
ORPHA:567
NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823
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ATG7
autophagy related 7
IAGP
HPO
MIM:619422
NCBI chr 3:11,272,397...11,576,353
Ensembl chr 3:11,272,309...11,557,665
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ATP6V0A2
ATPase H+ transporting V0 subunit a2
IAGP
HPO
MIM:278250 ORPHA:2834
NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,353...123,761,755
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BAG3
BAG cochaperone 3
IAGP
HPO
MIM:612954
NCBI chr10:119,651,380...119,677,819
Ensembl chr10:119,651,380...119,677,819
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BMP4
bone morphogenetic protein 4
IAGP
HPO
ORPHA:199306
NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
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CADM3
cell adhesion molecule 3
IAGP
HPO
MIM:619519
NCBI chr 1:159,171,615...159,203,313
Ensembl chr 1:159,171,609...159,203,313
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CAMKMT
calmodulin-lysine N-methyltransferase
IAGP
HPO
ORPHA:163693
NCBI chr 2:44,361,947...44,772,592
Ensembl chr 2:44,361,947...44,772,592
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CAMTA1
calmodulin binding transcription activator 1
IAGP
HPO
MIM:614756
NCBI chr 1:6,785,454...7,769,706
Ensembl chr 1:6,785,454...7,769,706
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CDH1
cadherin 1
IAGP
HPO
ORPHA:199306
NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
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CEP104
centrosomal protein 104
IAGP
HPO
MIM:619988
NCBI chr 1:3,812,086...3,857,211
Ensembl chr 1:3,812,086...3,857,396
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CHAT
choline O-acetyltransferase
IAGP
HPO
ORPHA:98914
NCBI chr10:49,609,095...49,667,942
Ensembl chr10:49,609,095...49,667,942
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CNOT2
CCR4-NOT transcription complex subunit 2
IAGP
HPO
MIM:618608
NCBI chr12:70,243,018...70,354,993
Ensembl chr12:70,243,002...70,354,993
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COBLL1
cordon-bleu WH2 repeat protein like 1
IAGP
HPO
ORPHA:199306
NCBI chr 2:164,657,931...164,842,076
Ensembl chr 2:164,653,624...164,843,679
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COL13A1
collagen type XIII alpha 1 chain
IAGP
HPO
ORPHA:98914
NCBI chr10:69,801,906...69,959,144
Ensembl chr10:69,801,880...69,964,275
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COL9A1
collagen type IX alpha 1 chain
IAGP
HPO
MIM:614134
NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084
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COMT
catechol-O-methyltransferase
IAGP
HPO
ORPHA:567
NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
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CRLF1
cytokine receptor like factor 1
IAGP
HPO
MIM:272430
NCBI chr19:18,593,237...18,606,799
Ensembl chr19:18,572,220...18,607,741
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DGCR2
DiGeorge syndrome critical region gene 2
IAGP
HPO
MIM:192430
NCBI chr22:19,036,286...19,122,412
Ensembl chr22:19,036,282...19,122,454
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DGCR6
DiGeorge syndrome critical region gene 6
IAGP
HPO
MIM:192430
NCBI chr22:18,906,223...18,912,088
Ensembl chr22:18,906,028...18,914,238
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DGCR8
DGCR8 microprocessor complex subunit
IAGP
HPO
MIM:192430
NCBI chr22:20,080,241...20,111,872
Ensembl chr22:20,080,221...20,111,877
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DLG1
discs large MAGUK scaffold protein 1
IAGP
HPO
ORPHA:199306
NCBI chr 3:197,042,560...197,299,321
Ensembl chr 3:197,042,560...197,299,330
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DLX4
distal-less homeobox 4
IAGP
HPO
ORPHA:199306
NCBI chr17:49,968,572...49,974,959
Ensembl chr17:49,968,588...49,974,959
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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
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ERI1
exoribonuclease 1
IAGP
HPO
MIM:620663
NCBI chr 8:9,002,897...9,100,104
Ensembl chr 8:9,002,147...9,116,746
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ESS2
ess-2 splicing factor homolog
IAGP
HPO
MIM:192430
NCBI chr22:19,130,279...19,144,651
Ensembl chr22:19,130,279...19,144,684
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FOXP2
forkhead box P2
IAGP
HPO
ORPHA:251061
NCBI chr 7:114,086,327...114,693,765
Ensembl chr 7:114,086,327...114,693,772
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GMPPA
GDP-mannose pyrophosphorylase A
IAGP
HPO
MIM:615510 ORPHA:869
NCBI chr 2:219,498,891...219,506,989
Ensembl chr 2:219,498,865...219,513,898
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GP1BB
glycoprotein Ib platelet subunit beta
IAGP
HPO
ORPHA:567
NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
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GRHL3
grainyhead like transcription factor 3
IAGP
HPO
ORPHA:155878 ORPHA:99772
NCBI chr 1:24,319,357...24,364,482
Ensembl chr 1:24,199,558...24,364,482
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GRIN2A
glutamate ionotropic receptor NMDA type subunit 2A
IAGP
HPO
ORPHA:163721
NCBI chr16:9,753,404...10,182,908
Ensembl chr16:9,753,404...10,183,337
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HERC2
HECT and RLD domain containing E3 ubiquitin protein ligase 2
IAGP
HPO
MIM:176270
NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179
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HIRA
histone cell cycle regulator
IAGP
HPO
ORPHA:567
NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450
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IL1RAPL1
interleukin 1 receptor accessory protein like 1
IAGP
HPO
MIM:300143
NCBI chr X:28,587,446...29,956,718
Ensembl chr X:28,587,446...29,956,718
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IPW
imprinted in Prader-Willi syndrome
IAGP
HPO
MIM:176270
NCBI chr15:25,116,545...25,122,476
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IQSEC2
IQ motif and Sec7 domain ArfGEF 2
IAGP
HPO
ORPHA:217377
NCBI chr X:53,225,813...53,321,350
Ensembl chr X:53,225,828...53,321,350
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IRF6
interferon regulatory factor 6
IAGP
HPO
ORPHA:141291 ORPHA:199306
NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
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JMJD1C
jumonji domain containing 1C
IAGP
HPO
ORPHA:567
NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850
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KANSL1
KAT8 regulatory NSL complex subunit 1
IAGP
HPO
MIM:610443
NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389
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LIFR
LIF receptor subunit alpha
IAGP
HPO
MIM:601559
NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354
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LRP12
LDL receptor related protein 12
IAGP
HPO
MIM:164310
NCBI chr 8:104,489,236...104,589,258
Ensembl chr 8:104,489,231...104,589,258
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MAGEL2
MAGE family member L2
IAGP
HPO
MIM:176270
NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867
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MATR3
matrin 3
IAGP
HPO
ORPHA:600
NCBI chr 5:139,274,101...139,331,677
Ensembl chr 5:139,273,752...139,331,671 Ensembl chr 5:139,273,752...139,331,671
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MED12
mediator complex subunit 12
IAGP
HPO
MIM:309520 ORPHA:776
NCBI chr X:71,118,596...71,142,450
Ensembl chr X:71,118,543...71,144,103
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MEGF10
multiple EGF like domains 10
IAGP
HPO
MIM:614399 MIM:620249
NCBI chr 5:127,229,300...127,461,222
Ensembl chr 5:127,290,796...127,465,737
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MGME1
mitochondrial genome maintenance exonuclease 1
IAGP
HPO
MIM:615084 ORPHA:352447
NCBI chr20:17,968,590...17,991,122
Ensembl chr20:17,969,018...17,991,122
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MGP
matrix Gla protein
IAGP
HPO
MIM:245150
NCBI chr12:14,880,864...14,885,854
Ensembl chr12:14,880,864...14,885,857
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MKRN3
makorin ring finger protein 3
IAGP
HPO
MIM:176270
NCBI chr15:23,565,674...23,568,044
Ensembl chr15:23,565,674...23,630,075
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MKRN3-AS1
MKRN3 antisense RNA 1
IAGP
HPO
MIM:176270
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MSX1
msh homeobox 1
IAGP
HPO
ORPHA:141291 ORPHA:199306
NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
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MUSK
muscle associated receptor tyrosine kinase
IAGP
HPO
MIM:616325
NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558
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MYH3
myosin heavy chain 3
IAGP
HPO
MIM:193700 ORPHA:2053
NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309
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MYMX
myomixer, myoblast fusion factor
IAGP
HPO
MIM:619941
NCBI chr 6:44,192,721...44,218,234
Ensembl chr 6:44,216,926...44,218,236
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MYO9A
myosin IXA
IAGP
HPO
ORPHA:98914
NCBI chr15:71,822,291...72,118,600
Ensembl chr15:71,822,291...72,118,577
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MYOT
myotilin
IAGP
HPO
ORPHA:98911
NCBI chr 5:137,867,860...137,887,851
Ensembl chr 5:137,867,858...137,887,851
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MYPN
myopalladin
IAGP
HPO
ORPHA:171881
NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017
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NALCN
sodium leak channel, non-selective
IAGP
HPO
ORPHA:2053
NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508
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NECTIN1
nectin cell adhesion molecule 1
IAGP
HPO
ORPHA:141291 ORPHA:199306
NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
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NONO
non-POU domain containing octamer binding
IAGP
HPO
MIM:300967 ORPHA:466791
NCBI chr X:71,283,635...71,301,168
Ensembl chr X:71,254,814...71,301,522
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NOTCH3
notch receptor 3
IAGP
HPO
MIM:130720
NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
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NPAP1
nuclear pore associated protein 1
IAGP
HPO
MIM:176270
NCBI chr15:24,675,775...24,683,393
Ensembl chr15:24,675,775...24,683,393
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PABPN1
poly(A) binding protein nuclear 1
IAGP
HPO
MIM:164300
NCBI chr14:23,321,457...23,326,163
Ensembl chr14:23,321,457...23,326,163
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PCNT
pericentrin
IAGP
HPO
ORPHA:2637
NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769
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PDGFRA
platelet derived growth factor receptor alpha
IAGP
HPO
ORPHA:199306
NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
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PHF8
PHD finger protein 8
IAGP
HPO
MIM:300263
NCBI chr X:53,936,680...54,048,936
Ensembl chr X:53,936,676...54,048,958
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PLEC
plectin
IAGP
HPO
ORPHA:254361
NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
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POLG
DNA polymerase gamma, catalytic subunit
IAGP
HPO
MIM:607459
NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
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PPM1B
protein phosphatase, Mg2+/Mn2+ dependent 1B
IAGP
HPO
ORPHA:163693
NCBI chr 2:44,168,875...44,246,928
Ensembl chr 2:44,167,969...44,244,384
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PQBP1
polyglutamine binding protein 1
IAGP
HPO
MIM:309500
NCBI chr X:48,897,930...48,903,143
Ensembl chr X:48,890,197...48,903,402
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PREPL
prolyl endopeptidase like
IAGP
HPO
ORPHA:163690 ORPHA:163693
NCBI chr 2:44,317,607...44,361,862
Ensembl chr 2:44,316,281...44,361,862
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PWAR1
Prader Willi/Angelman region RNA 1
IAGP
HPO
MIM:176270
NCBI chr15:25,135,642...25,138,053
Ensembl chr15:25,135,642...25,138,055
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PWRN1
Prader-Willi region non-protein coding RNA 1
IAGP
HPO
MIM:176270
NCBI chr15:24,558,157...24,587,780
Ensembl chr15:24,101,827...24,823,365
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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
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RIC1
RIC1 homolog, RAB6A GEF complex partner 1
IAGP
HPO
ORPHA:199306
NCBI chr 9:5,629,107...5,778,633
Ensembl chr 9:5,629,025...5,776,557
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RILPL1
Rab interacting lysosomal protein like 1
IAGP
HPO
MIM:619790
NCBI chr12:123,470,054...123,533,719
Ensembl chr12:123,470,054...123,533,719
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RREB1
ras responsive element binding protein 1
IAGP
HPO
ORPHA:567
NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980
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SCN4A
sodium voltage-gated channel alpha subunit 4
IAGP
HPO
MIM:620351
NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918
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SEC24C
SEC24 homolog C, COPII coat complex component
IAGP
HPO
ORPHA:567
NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161
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SELENON
selenoprotein N
IAGP
HPO
MIM:602771
NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221
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SET
SET nuclear proto-oncogene
IAGP
HPO
MIM:618106
NCBI chr 9:128,683,424...128,696,396
Ensembl chr 9:128,683,424...128,696,400
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SHOC2
SHOC2 leucine rich repeat scaffold protein
IAGP
HPO
MIM:607721
NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,919,367...111,017,307
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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
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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
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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
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SLC3A1
solute carrier family 3 member 1
IAGP
HPO
ORPHA:163690 ORPHA:163693
NCBI chr 2:44,275,480...44,322,437
Ensembl chr 2:44,275,458...44,321,494
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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
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SMS
spermine synthase
IAGP
HPO
MIM:309583 ORPHA:3063
NCBI chr X:21,940,709...21,994,837
Ensembl chr X:21,940,709...21,994,837
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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
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SNORD115-1
small nucleolar RNA, C/D box 115-1
IAGP
HPO
MIM:176270
NCBI chr15:25,170,723...25,170,804
Ensembl chr15:25,170,723...25,170,804
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SNORD116-1
small nucleolar RNA, C/D box 116-1
IAGP
HPO
MIM:176270
NCBI chr15:25,051,476...25,051,572
Ensembl chr15:25,051,477...25,051,571
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SNRPB
small nuclear ribonucleoprotein polypeptides B and B1
IAGP
HPO
MIM:117650
NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853
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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
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SPG7
SPG7 matrix AAA peptidase subunit, paraplegin
IAGP
HPO
ORPHA:99013
NCBI chr16:89,508,388...89,557,768
Ensembl chr16:89,490,719...89,557,766
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SRCAP
Snf2 related CREBBP activator protein
IAGP
HPO
ORPHA:2044
NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409
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SRPX2
sushi repeat containing protein X-linked 2
IAGP
HPO
ORPHA:163721
NCBI chr X:100,644,199...100,675,788
Ensembl chr X:100,644,195...100,675,788
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SYT2
synaptotagmin 2
IAGP
HPO
MIM:619461 ORPHA:98914
NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,454
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TBX1
T-box transcription factor 1
IAGP
HPO
MIM:188400 MIM:192430 ORPHA:1727 ORPHA:567
NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
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TFAP2A
transcription factor AP-2 alpha
IAGP
HPO
MIM:113620 ORPHA:1297
NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659
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TP63
tumor protein p63
IAGP
HPO
ORPHA:141291 ORPHA:199306
NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
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TPM2
tropomyosin 2
IAGP
HPO
ORPHA:171881
NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056
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TPM3
tropomyosin 3
IAGP
HPO
ORPHA:171881
NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648
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TRAPPC11
trafficking protein particle complex subunit 11
IAGP
HPO
ORPHA:869
NCBI chr 4:183,659,293...183,713,589
Ensembl chr 4:183,659,267...183,713,594
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TUBB6
tubulin beta 6 class V
IAGP
HPO
MIM:617732
NCBI chr18:12,307,669...12,329,826
Ensembl chr18:12,307,669...12,344,320
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TWNK
twinkle mtDNA helicase
IAGP
HPO
MIM:607459
NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403
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UBB
ubiquitin B
IAGP
HPO
ORPHA:155878 ORPHA:99772
NCBI chr17:16,380,779...16,382,745
Ensembl chr17:16,380,798...16,382,745
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UFD1
ubiquitin recognition factor in ER associated degradation 1
IAGP
HPO
ORPHA:567
NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202
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UNC45B
unc-45 myosin chaperone B
IAGP
HPO
MIM:619178
NCBI chr17:35,147,817...35,189,345
Ensembl chr17:35,147,817...35,189,345
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UPF3B
UPF3B regulator of nonsense mediated mRNA decay
IAGP
HPO
MIM:300676 ORPHA:776
NCBI chr X:119,805,311...119,852,963
Ensembl chr X:119,834,022...119,852,998
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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
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ZBTB18
zinc finger and BTB domain containing 18
IAGP
HPO
MIM:612337
NCBI chr 1:244,048,491...244,057,476
Ensembl chr 1:244,048,547...244,057,476
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ZDHHC9
zinc finger DHHC-type palmitoyltransferase 9
IAGP
HPO
ORPHA:776
NCBI chr X:129,803,288...129,843,886
Ensembl chr X:129,803,288...129,843,909
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DLX4
distal-less homeobox 4
IAGP
HPO
MIM:616788
NCBI chr17:49,968,572...49,974,959
Ensembl chr17:49,968,588...49,974,959
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TBC1D2B
TBC1 domain family member 2B
IAGP
HPO
ORPHA:397973
NCBI chr15:77,994,985...78,077,711
Ensembl chr15:77,984,036...78,077,724
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MATR3
matrin 3
IAGP
HPO
ORPHA:600
NCBI chr 5:139,274,101...139,331,677
Ensembl chr 5:139,273,752...139,331,671 Ensembl chr 5:139,273,752...139,331,671
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ATP5MC3
ATP synthase membrane subunit c locus 3
IAGP
HPO
MIM:619681
NCBI chr 2:175,176,258...175,181,710
Ensembl chr 2:175,176,258...175,181,710
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COL6A3
collagen type VI alpha 3 chain
IAGP
HPO
MIM:616411 ORPHA:464440
NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328
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FTL
ferritin light chain
IAGP
HPO
MIM:606159
NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,967,896
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GNAL
G protein subunit alpha L
IAGP
HPO
MIM:615073 ORPHA:329466
NCBI chr18:11,689,264...11,885,685
Ensembl chr18:11,689,264...11,885,685
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GNAS
GNAS complex locus
IAGP
HPO
ORPHA:79443 ORPHA:79444 ORPHA:94089
NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
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KCTD17
potassium channel tetramerization domain containing 17
IAGP
HPO
MIM:616398
NCBI chr22:37,051,742...37,063,390
Ensembl chr22:37,051,739...37,063,390
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KMT2B
lysine methyltransferase 2B
IAGP
HPO
MIM:617284
NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880
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POLR1A
RNA polymerase I subunit A
IAGP
HPO
MIM:616462
NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155
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PRKRA
protein activator of interferon induced protein kinase EIF2AK2
IAGP
HPO
MIM:612067
NCBI chr 2:178,431,414...178,451,175
Ensembl chr 2:178,431,292...178,451,512
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STX16
syntaxin 16
IAGP
HPO
ORPHA:94089
NCBI chr20:58,651,283...58,679,526
Ensembl chr20:58,651,272...58,679,526
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THAP1
THAP domain containing 1
IAGP
HPO
MIM:602629 ORPHA:98806
NCBI chr 8:42,836,674...42,843,325
Ensembl chr 8:42,836,674...42,843,325
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TSPOAP1
TSPO associated protein 1
IAGP
HPO
MIM:620453
NCBI chr17:58,301,231...58,328,795
Ensembl chr17:58,301,228...58,328,795
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TUBB4A
tubulin beta 4A class IVa
IAGP
HPO
ORPHA:98805
NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848
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VPS11
VPS11 core subunit of CORVET and HOPS complexes
IAGP
HPO
MIM:619637
NCBI chr11:119,067,818...119,081,972
Ensembl chr11:119,067,818...119,081,972
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VPS13A
vacuolar protein sorting 13 homolog A
IAGP
HPO
ORPHA:2388
NCBI chr 9:77,177,534...77,421,537
Ensembl chr 9:77,177,445...77,421,537
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ASAH1
N-acylsphingosine amidohydrolase 1
IAGP
HPO
ORPHA:333
NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998
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FTL
ferritin light chain
IAGP
HPO
ORPHA:157846
NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,967,896
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SDHA
succinate dehydrogenase complex flavoprotein subunit A
IAGP
HPO
MIM:619259
NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082
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SDHAF2
succinate dehydrogenase complex assembly factor 2
IAGP
HPO
MIM:601650
NCBI chr11:61,430,124...61,446,733
Ensembl chr11:61,430,042...61,446,839
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SDHC
succinate dehydrogenase complex subunit C
IAGP
HPO
MIM:605373
NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206
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SDHD
succinate dehydrogenase complex subunit D
IAGP
HPO
MIM:168000
NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016
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ACTB
actin beta
IAGP
HPO
MIM:607371
NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902
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ADGRG1
adhesion G protein-coupled receptor G1
IAGP
HPO
ORPHA:98889
NCBI chr16:57,619,738...57,665,567
Ensembl chr16:57,610,652...57,665,580
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ALDH18A1
aldehyde dehydrogenase 18 family member A1
IAGP
HPO
MIM:616586
NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711
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ALS2
alsin Rho guanine nucleotide exchange factor ALS2
IAGP
HPO
MIM:606353
NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112
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B4GALNT1
beta-1,4-N-acetyl-galactosaminyltransferase 1
IAGP
HPO
ORPHA:101006
NCBI chr12:57,623,409...57,633,201
Ensembl chr12:57,623,409...57,633,239
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CYP27A1
cytochrome P450 family 27 subfamily A member 1
IAGP
HPO
MIM:213700
NCBI chr 2:218,782,147...218,815,293
Ensembl chr 2:218,781,749...218,815,293
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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
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FIG4
FIG4 phosphoinositide 5-phosphatase
IAGP
HPO
ORPHA:208441
NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098
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HMBS
hydroxymethylbilane synthase
IAGP
HPO
ORPHA:79276
NCBI chr11:119,084,881...119,093,549
Ensembl chr11:119,084,866...119,093,834
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HTRA1
HtrA serine peptidase 1
IAGP
HPO
ORPHA:199354
NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907
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LMNB1
lamin B1
IAGP
HPO
MIM:169500
NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020
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NEFH
neurofilament heavy chain
IAGP
HPO
MIM:105400
NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390
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NONO
non-POU domain containing octamer binding
IAGP
HPO
ORPHA:466791
NCBI chr X:71,283,635...71,301,168
Ensembl chr X:71,254,814...71,301,522
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NOTCH3
notch receptor 3
IAGP
HPO
MIM:125310
NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
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NUS1
NUS1 dehydrodolichyl diphosphate synthase subunit
IAGP
HPO
MIM:617082
NCBI chr 6:117,675,469...117,710,727
Ensembl chr 6:117,675,469...117,710,727
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PI4KA
phosphatidylinositol 4-kinase alpha
IAGP
HPO
ORPHA:98889
NCBI chr22:20,707,691...20,858,811
Ensembl chr22:20,707,691...20,859,417
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PRPH
peripherin
IAGP
HPO
MIM:105400
NCBI chr12:49,295,147...49,298,686
Ensembl chr12:49,295,147...49,298,686
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RARS1
arginyl-tRNA synthetase 1
IAGP
HPO
MIM:616140 ORPHA:438114
NCBI chr 5:168,486,471...168,519,301
Ensembl chr 5:168,486,451...168,519,301
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SEC31A
SEC31 homolog A, COPII coat complex component
IAGP
HPO
MIM:618651
NCBI chr 4:82,818,509...82,900,569
Ensembl chr 4:82,818,509...82,901,166
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SOD1
superoxide dismutase 1
IAGP
HPO
MIM:105400
NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
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SRPX2
sushi repeat containing protein X-linked 2
IAGP
HPO
ORPHA:98889
NCBI chr X:100,644,199...100,675,788
Ensembl chr X:100,644,195...100,675,788
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TGM6
transglutaminase 6
IAGP
HPO
MIM:613908 ORPHA:276193
NCBI chr20:2,380,901...2,432,753
Ensembl chr20:2,380,901...2,432,753
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ZFYVE26
zinc finger FYVE-type containing 26
IAGP
HPO
ORPHA:100996
NCBI chr14:67,728,892...67,816,590
Ensembl chr14:67,727,374...67,816,590
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ALDH4A1
aldehyde dehydrogenase 4 family member A1
IAGP
HPO
ORPHA:79101
NCBI chr 1:18,871,430...18,902,555
Ensembl chr 1:18,871,430...18,902,724
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ARHGAP29
Rho GTPase activating protein 29
IAGP
HPO
ORPHA:199306
NCBI chr 1:94,168,905...94,314,592
Ensembl chr 1:94,148,988...94,275,068
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ARHGEF38
Rho guanine nucleotide exchange factor 38
IAGP
HPO
ORPHA:199306
NCBI chr 4:105,552,620...105,682,566
Ensembl chr 4:105,552,620...105,708,093
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BMP4
bone morphogenetic protein 4
IAGP
HPO
ORPHA:199306
NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
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CDH1
cadherin 1
IAGP
HPO
ORPHA:199306
NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
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COBLL1
cordon-bleu WH2 repeat protein like 1
IAGP
HPO
ORPHA:199306
NCBI chr 2:164,657,931...164,842,076
Ensembl chr 2:164,653,624...164,843,679
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DLG1
discs large MAGUK scaffold protein 1
IAGP
HPO
ORPHA:199306
NCBI chr 3:197,042,560...197,299,321
Ensembl chr 3:197,042,560...197,299,330
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DLX4
distal-less homeobox 4
IAGP
HPO
ORPHA:199306
NCBI chr17:49,968,572...49,974,959
Ensembl chr17:49,968,588...49,974,959
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FOXP1
forkhead box P1
IAGP
HPO
ORPHA:391372
NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978
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FRRS1L
ferric chelate reductase 1 like
IAGP
HPO
ORPHA:725
NCBI chr 9:109,130,293...109,167,249
Ensembl chr 9:109,130,293...109,167,249
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GABRG2
gamma-aminobutyric acid type A receptor subunit gamma2
IAGP
HPO
ORPHA:1945
NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977
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GALT
galactose-1-phosphate uridylyltransferase
IAGP
HPO
ORPHA:79239
NCBI chr 9:34,646,675...34,651,035
Ensembl chr 9:34,638,133...34,651,035
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GNAI3
G protein subunit alpha i3
IAGP
HPO
MIM:602483
NCBI chr 1:109,548,615...109,600,195
Ensembl chr 1:109,548,615...109,600,195
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GRHL3
grainyhead like transcription factor 3
IAGP
HPO
ORPHA:99772
NCBI chr 1:24,319,357...24,364,482
Ensembl chr 1:24,199,558...24,364,482
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GRIN2A
glutamate ionotropic receptor NMDA type subunit 2A
IAGP
HPO
ORPHA:1945 ORPHA:725 ORPHA:98818
NCBI chr16:9,753,404...10,182,908
Ensembl chr16:9,753,404...10,183,337
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HTT
huntingtin
IAGP
HPO
ORPHA:399
NCBI chr 4:3,074,681...3,243,960
Ensembl chr 4:3,041,363...3,243,957
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IRF6
interferon regulatory factor 6
IAGP
HPO
ORPHA:141291 ORPHA:199302 ORPHA:199306
NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
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MAGEL2
MAGE family member L2
IAGP
HPO
ORPHA:177901 ORPHA:177904
NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867
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MAPT
microtubule associated protein tau
IAGP
HPO
ORPHA:240103 ORPHA:240112
NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334
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MSX1
msh homeobox 1
IAGP
HPO
ORPHA:141291 ORPHA:199302 ORPHA:199306
NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
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NDN
necdin, MAGE family member
IAGP
HPO
ORPHA:177901 ORPHA:177904
NCBI chr15:23,685,400...23,687,305
Ensembl chr15:23,685,400...23,687,305
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NECTIN1
nectin cell adhesion molecule 1
IAGP
HPO
ORPHA:141291 ORPHA:199302 ORPHA:199306
NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
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NF1
neurofibromin 1
IAGP
HPO
ORPHA:363700
NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
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NONO
non-POU domain containing octamer binding
IAGP
DNA:nonsense mutation, silent mutation, frameshift mutation:CDS:p.R365*, p.A377A, p.N466Kfs*13
RGD
PMID:26571461
RGD:11058183
NCBI chr X:71,283,635...71,301,168
Ensembl chr X:71,254,814...71,301,522
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OCA2
OCA2 melanosomal transmembrane protein
IAGP
HPO
ORPHA:177901 ORPHA:177904
NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315
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PDGFRA
platelet derived growth factor receptor alpha
IAGP
HPO
ORPHA:199306
NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
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PLCB4
phospholipase C beta 4
IAGP
HPO
MIM:614669
NCBI chr20:9,068,678...9,480,808
Ensembl chr20:9,067,825...9,504,593
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RIC1
RIC1 homolog, RAB6A GEF complex partner 1
IAGP
HPO
ORPHA:199306
NCBI chr 9:5,629,107...5,778,633
Ensembl chr 9:5,629,025...5,776,557
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SH2B1
SH2B adaptor protein 1
IAGP
HPO
ORPHA:261197
NCBI chr16:28,846,606...28,874,205
Ensembl chr16:28,846,600...28,874,212
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SLC2A3
solute carrier family 2 member 3
IAGP
HPO
ORPHA:399
NCBI chr12:7,919,230...7,936,187
Ensembl chr12:7,919,230...8,019,007
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SMAD4
SMAD family member 4
IAGP
HPO
MIM:139210
NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
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SNRPN
small nuclear ribonucleoprotein polypeptide N
IAGP
HPO
ORPHA:177901 ORPHA:177904
NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723
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SRPX2
sushi repeat containing protein X-linked 2
IAGP
HPO
ORPHA:1945
NCBI chr X:100,644,199...100,675,788
Ensembl chr X:100,644,195...100,675,788
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STAG2
STAG2 cohesin complex component
IAGP
HPO
ORPHA:521258
NCBI chr X:123,960,560...124,102,656
Ensembl chr X:123,960,212...124,422,664
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TP63
tumor protein p63
IAGP
HPO
ORPHA:141291 ORPHA:199302 ORPHA:199306
NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
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UBB
ubiquitin B
IAGP
HPO
ORPHA:99772
NCBI chr17:16,380,779...16,382,745
Ensembl chr17:16,380,798...16,382,745
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TSPYL1
TSPY like 1
IAGP
HPO
MIM:608800
NCBI chr 6:116,274,858...116,279,930
Ensembl chr 6:116,267,760...116,279,930
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POLA1
DNA polymerase alpha 1, catalytic subunit
IAGP
HPO
MIM:301030
NCBI chr X:24,693,918...24,996,986
Ensembl chr X:24,693,873...24,996,986
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HAAO
3-hydroxyanthranilate 3,4-dioxygenase
IAGP
HPO
MIM:617660
NCBI chr 2:42,767,089...42,792,583
Ensembl chr 2:42,767,089...42,792,593
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ADCY6
adenylate cyclase 6
IAGP
HPO
MIM:616287
NCBI chr12:48,766,194...48,789,974
Ensembl chr12:48,766,194...48,789,089
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ATXN3
ataxin 3
IAGP
HPO
ORPHA:276238 ORPHA:276241 ORPHA:276244
NCBI chr14:92,044,775...92,106,582
Ensembl chr14:92,044,496...92,106,621
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CAMK2B
calcium/calmodulin dependent protein kinase II beta
IAGP
HPO
MIM:617799
NCBI chr 7:44,217,154...44,326,013
Ensembl chr 7:44,210,019...44,334,577
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DCTN1
dynactin subunit 1
IAGP
HPO
MIM:607641
NCBI chr 2:74,361,155...74,391,866
Ensembl chr 2:74,361,154...74,392,087
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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
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DLST
dihydrolipoamide S-succinyltransferase
IAGP
HPO
ORPHA:29072
NCBI chr14:74,881,916...74,903,743
Ensembl chr14:74,881,891...74,903,743
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DNMT3A
DNA methyltransferase 3 alpha
IAGP
HPO
ORPHA:276621
NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590
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ELN
elastin
IAGP
HPO
MIM:194050
NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
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EMD
emerin
IAGP
HPO
ORPHA:98863
NCBI chr X:154,379,295...154,381,523
Ensembl chr X:154,379,273...154,381,574
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EPAS1
endothelial PAS domain protein 1
IAGP
HPO
ORPHA:276621
NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697
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FH
fumarate hydratase
IAGP
HPO
ORPHA:29072
NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799
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FHL1
four and a half LIM domains 1
IAGP
HPO
ORPHA:98863
NCBI chr X:136,146,702...136,211,359
Ensembl chr X:136,146,702...136,211,359
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KIF1B
kinesin family member 1B
IAGP
HPO
ORPHA:29072
NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603
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LMNA
lamin A/C
IAGP
HPO
ORPHA:98853
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
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MAX
MYC associated factor X
IAGP
HPO
ORPHA:29072
NCBI chr14:65,006,101...65,102,695
Ensembl chr14:65,006,174...65,102,695
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MDH2
malate dehydrogenase 2
IAGP
HPO
ORPHA:29072
NCBI chr 7:76,048,106...76,067,508
Ensembl chr 7:76,048,051...76,067,508
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MFN2
mitofusin 2
IAGP
HPO
ORPHA:99947
NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211
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MLXIPL
MLX interacting protein like
IAGP
HPO
MIM:194050
NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543
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MYCN
MYCN proto-oncogene, bHLH transcription factor
IAGP
HPO
MIM:164280
NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
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MYH14
myosin heavy chain 14
IAGP
HPO
ORPHA:397744
NCBI chr19:50,203,622...50,310,540
Ensembl chr19:50,188,186...50,310,542
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NF1
neurofibromin 1
IAGP
HPO
ORPHA:29072
NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
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PMP22
peripheral myelin protein 22
IAGP
HPO
MIM:162500 ORPHA:640
NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292
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POLR1A
RNA polymerase I subunit A
IAGP
HPO
MIM:616462
NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155
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RET
ret proto-oncogene
IAGP
HPO
ORPHA:276621 ORPHA:29072
NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
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SBF2
SET binding factor 2
IAGP
HPO
ORPHA:99956
NCBI chr11:9,778,668...10,304,841
Ensembl chr11:9,776,776...10,304,877
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SCO2
synthesis of cytochrome C oxidase 2
IAGP
HPO
MIM:604377
NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461
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SDHA
succinate dehydrogenase complex flavoprotein subunit A
IAGP
HPO
ORPHA:29072
NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082
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SDHAF2
succinate dehydrogenase complex assembly factor 2
IAGP
HPO
MIM:601650 ORPHA:29072
NCBI chr11:61,430,124...61,446,733
Ensembl chr11:61,430,042...61,446,839
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SDHB
succinate dehydrogenase complex iron sulfur subunit B
IAGP
HPO
ORPHA:276621 ORPHA:29072
NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151
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SDHC
succinate dehydrogenase complex subunit C
IAGP
HPO
MIM:605373 ORPHA:29072
NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206
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SDHD
succinate dehydrogenase complex subunit D
IAGP
HPO
MIM:168000 ORPHA:276621 ORPHA:29072
NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016
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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
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SLC25A11
solute carrier family 25 member 11
IAGP
HPO
ORPHA:29072
NCBI chr17:4,937,130...4,940,046
Ensembl chr17:4,937,130...4,940,053
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SLC52A3
solute carrier family 52 member 3
IAGP
HPO
MIM:211530
NCBI chr20:760,080...780,033
Ensembl chr20:760,080...776,015
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SLC5A7
solute carrier family 5 member 7
IAGP
HPO
MIM:158580
NCBI chr 2:107,986,524...108,013,994
Ensembl chr 2:107,986,523...108,013,994
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SYNE1
spectrin repeat containing nuclear envelope protein 1
IAGP
HPO
ORPHA:98853
NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801
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SYNE2
spectrin repeat containing nuclear envelope protein 2
IAGP
HPO
ORPHA:98853
NCBI chr14:63,761,596...64,226,449
Ensembl chr14:63,761,899...64,226,433
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TMEM127
transmembrane protein 127
IAGP
HPO
ORPHA:29072
NCBI chr 2:96,248,514...96,265,997
Ensembl chr 2:96,248,500...96,266,047
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TMEM43
transmembrane protein 43
IAGP
HPO
ORPHA:98853
NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680
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TNNC2
troponin C2, fast skeletal type
IAGP
HPO
MIM:620161
NCBI chr20:45,823,214...45,833,306
Ensembl chr20:45,823,214...45,833,745
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TRAPPC12
trafficking protein particle complex subunit 12
IAGP
HPO
ORPHA:500144
NCBI chr 2:3,379,694...3,479,565
Ensembl chr 2:3,379,675...3,485,094
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TRIM2
tripartite motif containing 2
IAGP
HPO
MIM:615490
NCBI chr 4:153,152,163...153,339,317
Ensembl chr 4:153,152,163...153,339,319
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VHL
von Hippel-Lindau tumor suppressor
IAGP
HPO
ORPHA:276621 ORPHA:29072
NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676
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ZNF699
zinc finger protein 699
IAGP
HPO
MIM:619488
NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838
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GDAP1
ganglioside induced differentiation associated protein 1
IAGP
HPO
MIM:607706 ORPHA:101097 ORPHA:99948
NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007
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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
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JAG1
jagged canonical Notch ligand 1
IAGP
HPO
MIM:619574
NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999
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LONP1
lon peptidase 1, mitochondrial
IAGP
HPO
MIM:600373
NCBI chr19:5,691,834...5,720,452
Ensembl chr19:5,691,834...5,720,572
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LRP12
LDL receptor related protein 12
IAGP
HPO
ORPHA:98897
NCBI chr 8:104,489,236...104,589,258
Ensembl chr 8:104,489,231...104,589,258
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MATR3
matrin 3
IAGP
HPO
ORPHA:600
NCBI chr 5:139,274,101...139,331,677
Ensembl chr 5:139,273,752...139,331,671 Ensembl chr 5:139,273,752...139,331,671
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MFN2
mitofusin 2
IAGP
HPO
MIM:601152
NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211
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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
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PRX
periaxin
IAGP
HPO
MIM:614895
NCBI chr19:40,393,764...40,414,789
Ensembl chr19:40,393,766...40,414,793
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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
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SH3TC2
SH3 domain and tetratricopeptide repeats 2
IAGP
HPO
ORPHA:99949
NCBI chr 5:148,982,150...149,063,062
Ensembl chr 5:148,923,639...149,063,163
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SLC5A7
solute carrier family 5 member 7
IAGP
HPO
MIM:158580
NCBI chr 2:107,986,524...108,013,994
Ensembl chr 2:107,986,523...108,013,994
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TRPV4
transient receptor potential cation channel subfamily V member 4
IAGP
HPO
MIM:606071
NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
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AGRN
agrin
IAGP
HPO
ORPHA:98914
NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,119
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ASAH1
N-acylsphingosine amidohydrolase 1
IAGP
HPO
ORPHA:333
NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998
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ASPA
aspartoacylase
IAGP
HPO
ORPHA:314911
NCBI chr17:3,474,110...3,503,405
Ensembl chr17:3,472,374...3,503,405
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ATRX
ATRX chromatin remodeler
IAGP
HPO
MIM:301040
NCBI chr X:77,504,880...77,786,216
Ensembl chr X:77,504,880...77,786,233
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CHAT
choline O-acetyltransferase
IAGP
HPO
MIM:254210 ORPHA:98914
NCBI chr10:49,609,095...49,667,942
Ensembl chr10:49,609,095...49,667,942
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CHRNA1
cholinergic receptor nicotinic alpha 1 subunit
IAGP
HPO
MIM:608930
NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935
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CHRND
cholinergic receptor nicotinic delta subunit
IAGP
HPO
MIM:616322
NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667
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CHRNE
cholinergic receptor nicotinic epsilon subunit
IAGP
HPO
MIM:605809 MIM:608931
NCBI chr17:4,897,771...4,908,677
Ensembl chr17:4,897,771...4,934,438
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COL13A1
collagen type XIII alpha 1 chain
IAGP
HPO
ORPHA:98914
NCBI chr10:69,801,906...69,959,144
Ensembl chr10:69,801,880...69,964,275
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COLQ
collagen like tail subunit of asymmetric acetylcholinesterase
IAGP
HPO
MIM:603034 ORPHA:98915
NCBI chr 3:15,450,133...15,521,706
Ensembl chr 3:15,450,133...15,521,751
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COQ9
coenzyme Q9
IAGP
HPO
MIM:614654
NCBI chr16:57,447,479...57,461,270
Ensembl chr16:57,447,425...57,461,270
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CRYAB
crystallin alpha B
IAGP
HPO
MIM:613869
NCBI chr11:111,908,564...111,923,740
Ensembl chr11:111,908,564...111,923,722
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EXOSC9
exosome component 9
IAGP
HPO
MIM:618065
NCBI chr 4:121,801,323...121,817,021
Ensembl chr 4:121,801,318...121,817,021
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FKTN
fukutin
IAGP
HPO
ORPHA:272
NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820
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FTO
FTO alpha-ketoglutarate dependent dioxygenase
IAGP
HPO
MIM:612938
NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512
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GFPT1
glutamine--fructose-6-phosphate transaminase 1
IAGP
HPO
MIM:608931
NCBI chr 2:69,319,780...69,387,227
Ensembl chr 2:69,319,780...69,387,250
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GGPS1
geranylgeranyl diphosphate synthase 1
IAGP
HPO
MIM:619518
NCBI chr 1:235,327,216...235,344,532
Ensembl chr 1:235,327,350...235,344,532
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HACD1
3-hydroxyacyl-CoA dehydratase 1
IAGP
HPO
MIM:619967
NCBI chr10:17,589,032...17,617,374
Ensembl chr10:17,589,032...17,617,374
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IFT56
intraflagellar transport 56
IAGP
HPO
MIM:619534
NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986
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IGHMBP2
immunoglobulin mu DNA binding protein 2
IAGP
HPO
MIM:604320
NCBI chr11:68,903,891...68,940,601
Ensembl chr11:68,903,863...68,940,602
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KDM6A
lysine demethylase 6A
IAGP
HPO
MIM:147920
NCBI chr X:44,873,188...45,112,779
Ensembl chr X:44,873,188...45,112,779
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KMT2D
lysine methyltransferase 2D
IAGP
HPO
MIM:147920
NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
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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
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LAMA3
laminin subunit alpha 3
IAGP
HPO
MIM:245660
NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222
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LAMB2
laminin subunit beta 2
IAGP
HPO
ORPHA:98915
NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118
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LYRM4
LYR motif containing 4
IAGP
HPO
MIM:615595
NCBI chr 6:5,031,753...5,260,950
Ensembl chr 6:5,103,629...5,260,950
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MAGEL2
MAGE family member L2
IAGP
HPO
MIM:615547 ORPHA:398069
NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867
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MPV17
mitochondrial inner membrane protein MPV17
IAGP
HPO
MIM:256810
NCBI chr 2:27,309,492...27,323,097
Ensembl chr 2:27,309,492...27,325,680
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MYO9A
myosin IXA
IAGP
HPO
ORPHA:98914
NCBI chr15:71,822,291...72,118,600
Ensembl chr15:71,822,291...72,118,577
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NDUFS8
NADH:ubiquinone oxidoreductase core subunit S8
IAGP
HPO
MIM:618222
NCBI chr11:68,030,681...68,036,644
Ensembl chr11:68,030,617...68,036,644
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NIPBL
NIPBL cohesin loading factor
IAGP
HPO
MIM:122470
NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413
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OPA1
OPA1 mitochondrial dynamin like GTPase
IAGP
HPO
MIM:616896
NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811
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PEX19
peroxisomal biogenesis factor 19
IAGP
HPO
MIM:614886
NCBI chr 1:160,276,807...160,285,151
Ensembl chr 1:160,276,807...160,286,348
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PPP1R21
protein phosphatase 1 regulatory subunit 21
IAGP
HPO
MIM:619383
NCBI chr 2:48,440,766...48,515,386
Ensembl chr 2:48,440,598...48,515,391
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RAPSN
receptor associated protein of the synapse
IAGP
HPO
MIM:616326 MIM:618388
NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143
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RYR1
ryanodine receptor 1
IAGP
HPO
ORPHA:324581
NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273
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SCN4A
sodium voltage-gated channel alpha subunit 4
IAGP
HPO
MIM:620351 MIM:620369
NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918
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SIM1
SIM bHLH transcription factor 1
IAGP
HPO
ORPHA:398079
NCBI chr 6:100,385,009...100,464,921
Ensembl chr 6:100,385,009...100,464,921
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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
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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
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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
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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
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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
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SYT2
synaptotagmin 2
IAGP
HPO
MIM:619461 ORPHA:98914
NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,454
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TPM3
tropomyosin 3
IAGP
HPO
MIM:255310
NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648
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TRIP4
thyroid hormone receptor interactor 4
IAGP
HPO
ORPHA:486815
NCBI chr15:64,387,836...64,455,303
Ensembl chr15:64,387,748...64,455,303
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UBA1
ubiquitin like modifier activating enzyme 1
IAGP
HPO
MIM:301830
NCBI chr X:47,190,847...47,215,128
Ensembl chr X:47,190,861...47,215,128
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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
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VARS1
valyl-tRNA synthetase 1
IAGP
HPO
MIM:617802
NCBI chr 6:31,777,518...31,795,752
Ensembl chr 6:31,777,518...31,795,752
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VPS13B
vacuolar protein sorting 13 homolog B
IAGP
HPO
ORPHA:193
NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580
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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
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AOPEP
aminopeptidase O (putative)
IAGP
HPO
MIM:619565
NCBI chr 9:94,726,699...95,150,224
Ensembl chr 9:94,726,604...95,151,793
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ATP6AP2
ATPase H+ transporting accessory protein 2
IAGP
HPO
ORPHA:93952
NCBI chr X:40,580,970...40,606,848
Ensembl chr X:40,579,372...40,606,848
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ATXN2
ataxin 2
IAGP
HPO
MIM:168600
NCBI chr12:111,452,214...111,599,673
Ensembl chr12:111,443,485...111,599,676
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ATXN3
ataxin 3
IAGP
HPO
MIM:168600
NCBI chr14:92,044,775...92,106,582
Ensembl chr14:92,044,496...92,106,621
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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
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COQ6
coenzyme Q6, monooxygenase
IAGP
HPO
ORPHA:93921
NCBI chr14:73,949,918...73,963,670
Ensembl chr14:73,949,926...73,963,670
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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
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DNAJC6
DnaJ heat shock protein family (Hsp40) member C6
IAGP
HPO
ORPHA:391411
NCBI chr 1:65,264,749...65,415,871
Ensembl chr 1:65,248,219...65,415,871
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FHL1
four and a half LIM domains 1
IAGP
HPO
MIM:300280
NCBI chr X:136,146,702...136,211,359
Ensembl chr X:136,146,702...136,211,359
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FTL
ferritin light chain
IAGP
HPO
ORPHA:157846
NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,967,896
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GARS1
glycyl-tRNA synthetase 1
IAGP
HPO
MIM:619042
NCBI chr 7:30,594,735...30,634,033
Ensembl chr 7:30,580,533...30,634,033
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GBA1
glucosylceramidase beta 1
IAGP
HPO
MIM:168600
NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
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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
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LZTR1
leucine zipper like post translational regulator 1
IAGP
HPO
ORPHA:93921
NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
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MAPT
microtubule associated protein tau
IAGP
HPO
MIM:168600 ORPHA:240094
NCBI chr17:45,894,554...46,028,334
Ensembl chr17:45,894,527...46,028,334
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MATR3
matrin 3
IAGP
HPO
ORPHA:600
NCBI chr 5:139,274,101...139,331,677
Ensembl chr 5:139,273,752...139,331,671 Ensembl chr 5:139,273,752...139,331,671
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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
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NF2
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
IAGP
HPO
ORPHA:93921
NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,553...29,698,598
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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
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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
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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
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SLC52A3
solute carrier family 52 member 3
IAGP
HPO
MIM:211530
NCBI chr20:760,080...780,033
Ensembl chr20:760,080...776,015
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SMARCB1
SWI/SNF related BAF chromatin remodeling complex subunit B1
IAGP
HPO
ORPHA:93921
NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
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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
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SYNJ1
synaptojanin 1
IAGP
HPO
MIM:615530 ORPHA:391411
NCBI chr21:32,628,759...32,728,394
Ensembl chr21:32,628,759...32,728,040
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SYT2
synaptotagmin 2
IAGP
HPO
MIM:619461
NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,454
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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
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TK2
thymidine kinase 2
IAGP
HPO
ORPHA:254886
NCBI chr16:66,508,003...66,550,291
Ensembl chr16:66,508,003...66,552,544
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TONSL
tonsoku like, DNA repair protein
IAGP
HPO
ORPHA:93357
NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440
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TRIM37
tripartite motif containing 37
IAGP
HPO
MIM:253250
NCBI chr17:58,967,201...59,106,880
Ensembl chr17:58,982,638...59,106,921
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