Term: Short palpebral fissure
Accession: HP:0012745
browse the term
Definition: Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures.
Synonyms: exact_synonym: Decreased height of palpebral fissure; Short opening between the eyelids; Short palpebral fissures
xref: SNOMEDCT_US:246802000; UMLS:C0423112
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ADNP
activity dependent neuroprotector homeobox
IAGP
HPO
OMIM:615873
NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437
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AFF3
ALF transcription elongation factor 3
IAGP
HPO
OMIM:619297
NCBI chr 2:99,545,419...100,142,590
Ensembl chr 2:99,545,419...100,192,428
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ALDH1A3
aldehyde dehydrogenase 1 family member A3
IAGP
HPO
OMIM:615113
NCBI chr15:100,879,831...100,916,626
Ensembl chr15:100,877,714...100,916,626
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ALX4
ALX homeobox 4
IAGP
HPO
OMIM:613451
NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139
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AUTS2
activator of transcription and developmental regulator AUTS2
IAGP
HPO
OMIM:615834 ORPHA:352490
NCBI chr 7:69,598,475...70,793,506
Ensembl chr 7:69,598,296...70,793,506
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B3GLCT
beta 3-glucosyltransferase
IAGP
HPO
ORPHA:709
NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276
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BCL11B
BCL11 transcription factor B
IAGP
HPO
OMIM:617237 OMIM:618092
NCBI chr14:99,169,287...99,272,197
Ensembl chr14:99,169,287...99,272,197
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BPTF
bromodomain PHD finger transcription factor
IAGP
HPO
OMIM:617755
NCBI chr17:67,825,503...67,984,378
Ensembl chr17:67,825,503...67,984,378
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BRCA1
BRCA1 DNA repair associated
IAGP
HPO
ORPHA:84
NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245
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BRCA2
BRCA2 DNA repair associated
IAGP
HPO
ORPHA:84
NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
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BRIP1
BRCA1 interacting helicase 1
IAGP
HPO
ORPHA:84
NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559
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CDK13
cyclin dependent kinase 13
IAGP
HPO
OMIM:617360
NCBI chr 7:39,950,256...40,099,580
Ensembl chr 7:39,950,121...40,099,580
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CEP57
centrosomal protein 57
IAGP
HPO
OMIM:614114
NCBI chr11:95,790,498...95,832,693
Ensembl chr11:95,789,965...95,832,693
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CHD4
chromodomain helicase DNA binding protein 4
IAGP
HPO
OMIM:617159
NCBI chr12:6,570,082...6,607,379
Ensembl chr12:6,570,082...6,614,524
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CHN1
chimerin 1
IAGP
HPO
ORPHA:233
NCBI chr 2:174,798,809...175,005,381
Ensembl chr 2:174,798,809...175,005,381
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CLTCL1
clathrin heavy chain like 1
IAGP
HPO
ORPHA:453510
NCBI chr22:19,179,473...19,291,719
Ensembl chr22:19,179,473...19,291,719
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COG7
component of oligomeric golgi complex 7
IAGP
HPO
OMIM:608779
NCBI chr16:23,388,493...23,453,189
Ensembl chr16:23,388,493...23,453,189
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CREBBP
CREB binding protein
IAGP
HPO
OMIM:618332
NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
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DCHS1
dachsous cadherin-related 1
IAGP
HPO
OMIM:601390
NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809
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DDB1
damage specific DNA binding protein 1
IAGP
HPO
OMIM:619426
NCBI chr11:61,299,451...61,333,105
Ensembl chr11:61,299,451...61,342,596
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DDX3X
DEAD-box helicase 3 X-linked
IAGP
HPO
ORPHA:3338
NCBI chr X:41,333,308...41,364,472
Ensembl chr X:41,333,348...41,364,472
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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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DONSON
DNA replication fork stabilization factor DONSON
IAGP
HPO
OMIM:251230
NCBI chr21:33,577,551...33,588,684
Ensembl chr21:33,559,542...33,588,706
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EP300
E1A binding protein p300
IAGP
HPO
OMIM:618333
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
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ERCC4
ERCC excision repair 4, endonuclease catalytic subunit
IAGP
HPO
ORPHA:84
NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
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ERMARD
ER membrane associated RNA degradation
IAGP
HPO
ORPHA:75857
NCBI chr 6:169,751,306...169,781,600
Ensembl chr 6:169,751,622...169,781,600
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EXOSC2
exosome component 2
IAGP
HPO
OMIM:617763
NCBI chr 9:130,693,760...130,704,894
Ensembl chr 9:130,693,721...130,707,288
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FANCA
FA complementation group A
IAGP
HPO
ORPHA:84
NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
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FANCB
FA complementation group B
IAGP
HPO
ORPHA:84
NCBI chr X:14,689,524...14,873,069
Ensembl chr X:14,690,388...14,873,255
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FANCC
FA complementation group C
IAGP
HPO
ORPHA:84
NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796
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FANCD2
FA complementation group D2
IAGP
HPO
ORPHA:84
NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
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FANCE
FA complementation group E
IAGP
HPO
ORPHA:84
NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104
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FANCF
FA complementation group F
IAGP
HPO
ORPHA:84
NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823
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FANCG
FA complementation group G
IAGP
HPO
ORPHA:84
NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004
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FANCI
FA complementation group I
IAGP
HPO
ORPHA:84
NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261
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FANCL
FA complementation group L
IAGP
HPO
ORPHA:84
NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410
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FANCM
FA complementation group M
IAGP
HPO
ORPHA:84
NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890
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FAT4
FAT atypical cadherin 4
IAGP
HPO
OMIM:615546
NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932
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FBXO28
F-box protein 28
IAGP
HPO
OMIM:619777
NCBI chr 1:224,114,111...224,162,047
Ensembl chr 1:224,114,111...224,162,047
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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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GJA1
gap junction protein alpha 1
IAGP
HPO
OMIM:164200 OMIM:257850
NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
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GJA5
gap junction protein alpha 5
IAGP
HPO
OMIM:612474
NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362
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GJA8
gap junction protein alpha 8
IAGP
HPO
OMIM:612474
NCBI chr 1:147,902,795...147,914,486
Ensembl chr 1:147,902,795...147,909,269
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GLI3
GLI family zinc finger 3
IAGP
ClinVar Annotator: match by term: Short opening between the eyelids
ClinVar
PMID:28492532
NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100
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H4C5
H4 clustered histone 5
IAGP
HPO
OMIM:619950
NCBI chr 6:26,204,610...26,205,021
Ensembl chr 6:26,204,610...26,205,021
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HNRNPH2
heterogeneous nuclear ribonucleoprotein H2
IAGP
HPO
OMIM:300986
NCBI chr X:101,408,222...101,414,133
Ensembl chr X:101,408,222...101,414,133
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HNRNPR
heterogeneous nuclear ribonucleoprotein R
IAGP
HPO
OMIM:620073
NCBI chr 1:23,304,688...23,344,284
Ensembl chr 1:23,303,771...23,344,336
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HUWE1
HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1
IAGP
HPO
OMIM:309590
NCBI chr X:53,532,096...53,686,719
Ensembl chr X:53,532,096...53,686,752
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KANSL1
KAT8 regulatory NSL complex subunit 1
IAGP
HPO
ORPHA:363958 ORPHA:363965
NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389
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KAT6B
lysine acetyltransferase 6B
IAGP
HPO
ORPHA:3047
NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624
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KCNJ2
potassium inwardly rectifying channel subfamily J member 2
IAGP
HPO
OMIM:170390 ORPHA:37553
NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044
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KCNJ5
potassium inwardly rectifying channel subfamily J member 5
IAGP
HPO
ORPHA:37553
NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163
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KIF15
kinesin family member 15
IAGP
HPO
ORPHA:261323
NCBI chr 3:44,761,794...44,868,687
Ensembl chr 3:44,761,721...44,873,376
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KMT2A
lysine methyltransferase 2A
IAGP
HPO
OMIM:605130 ORPHA:319182
NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832
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KRAS
KRAS proto-oncogene, GTPase
IAGP
HPO
ORPHA:3339
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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LARP7
La ribonucleoprotein 7, transcriptional regulator
IAGP
HPO
OMIM:615071 ORPHA:319671
NCBI chr 4:112,637,143...112,657,586
Ensembl chr 4:112,637,077...112,657,696
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LIFR
LIF receptor subunit alpha
IAGP
HPO
OMIM:601559
NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354
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LMNA
lamin A/C
IAGP
HPO
ORPHA:1662
NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081
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MAD2L2
mitotic arrest deficient 2 like 2
IAGP
HPO
ORPHA:84
NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,658,918...11,691,811
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MADD
MAP kinase activating death domain
IAGP
HPO
OMIM:619004 OMIM:619005
NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031
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MAFB
MAF bZIP transcription factor B
IAGP
HPO
ORPHA:233
NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236
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MAGEL2
MAGE family member L2
IAGP
HPO
OMIM:615547
NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867
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MAPRE2
microtubule associated protein RP/EB family member 2
IAGP
HPO
OMIM:616734
NCBI chr18:34,977,027...35,143,470
Ensembl chr18:34,976,928...35,143,470
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MEG3
maternally expressed 3
IAGP
HPO
ORPHA:96334
NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031
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MOGS
mannosyl-oligosaccharide glucosidase
IAGP
HPO
OMIM:606056 ORPHA:79330
NCBI chr 2:74,461,057...74,465,382
Ensembl chr 2:74,461,057...74,465,410
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MUSK
muscle associated receptor tyrosine kinase
IAGP
HPO
OMIM:208150
NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558
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MYCN
MYCN proto-oncogene, bHLH transcription factor
IAGP
HPO
OMIM:164280 ORPHA:391641
NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
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NUAK2
NUAK family kinase 2
IAGP
HPO
OMIM:619452
NCBI chr 1:205,302,063...205,321,745
Ensembl chr 1:205,302,063...205,321,745
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ORC1
origin recognition complex subunit 1
IAGP
HPO
OMIM:224690
NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423
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PALB2
partner and localizer of BRCA2
IAGP
HPO
ORPHA:84
NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321
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PIEZO2
piezo type mechanosensitive ion channel component 2
IAGP
HPO
ORPHA:2461
NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569
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POLA1
DNA polymerase alpha 1, catalytic subunit
IAGP
HPO
OMIM:301030
NCBI chr X:24,693,918...24,996,986
Ensembl chr X:24,693,873...24,996,986
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POLR1A
RNA polymerase I subunit A
IAGP
HPO
ORPHA:1200
NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155
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PPP1R12A
protein phosphatase 1 regulatory subunit 12A
IAGP
HPO
OMIM:618820
NCBI chr12:79,773,563...79,935,460
Ensembl chr12:79,773,563...79,935,460
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PRKAR1B
protein kinase cAMP-dependent type I regulatory subunit beta
IAGP
HPO
OMIM:619680
NCBI chr 7:549,197...728,934
Ensembl chr 7:549,197...727,650
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PRMT7
protein arginine methyltransferase 7
IAGP
HPO
OMIM:617157
NCBI chr16:68,311,019...68,360,870
Ensembl chr16:68,310,951...68,360,852
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PUF60
poly(U) binding splicing factor 60
IAGP
HPO
ORPHA:508498
NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709
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RAD51
RAD51 recombinase
IAGP
HPO
ORPHA:84
NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340
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RAD51C
RAD51 paralog C
IAGP
HPO
ORPHA:84
NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611
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RAP1B
RAP1B, member of RAS oncogene family
IAGP
HPO
OMIM:620654
NCBI chr12:68,610,899...68,671,901
Ensembl chr12:68,610,855...68,671,901
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RBM10
RNA binding motif protein 10
IAGP
HPO
OMIM:311900 ORPHA:2886
NCBI chr X:47,145,221...47,186,813
Ensembl chr X:47,145,221...47,186,813
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RBPJ
recombination signal binding protein for immunoglobulin kappa J region
IAGP
HPO
OMIM:614814
NCBI chr 4:26,105,449...26,435,131
Ensembl chr 4:26,163,455...26,435,131
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RFWD3
ring finger and WD repeat domain 3
IAGP
HPO
ORPHA:84
NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877
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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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SALL4
spalt like transcription factor 4
IAGP
HPO
ORPHA:233 ORPHA:959
NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
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SEPTIN9
septin 9
IAGP
HPO
ORPHA:2901
NCBI chr17:77,281,499...77,500,596
Ensembl chr17:77,280,569...77,500,596
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SETBP1
SET binding protein 1
IAGP
HPO
OMIM:616078
NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510
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SETD2
SET domain containing 2, histone lysine methyltransferase
IAGP
HPO
OMIM:620155 OMIM:620157
NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113
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SIN3A
SIN3 transcription regulator family member A
IAGP
HPO
OMIM:613406
NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842
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SLC25A24
solute carrier family 25 member 24
IAGP
HPO
OMIM:612289
NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849
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SLC2A10
solute carrier family 2 member 10
IAGP
HPO
OMIM:208050 ORPHA:3342
NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347
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SLX4
SLX4 structure-specific endonuclease subunit
IAGP
HPO
OMIM:613951 ORPHA:84
NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606
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SMAD4
SMAD family member 4
IAGP
DNA:missense mutations:exon:p.I500T (c.1498A>G), p.I500V, p.I500M
HPO RGD
PMID:22158539
ORPHA:2588 , RGD:12880042
NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
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SMARCA2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
IAGP
HPO
ORPHA:3051
NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624
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SMC5
structural maintenance of chromosomes 5
IAGP
HPO
OMIM:620185
NCBI chr 9:70,258,978...70,354,873
Ensembl chr 9:70,258,978...70,354,873
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SMOC1
SPARC related modular calcium binding 1
IAGP
HPO
OMIM:206920
NCBI chr14:69,879,416...70,032,366
Ensembl chr14:69,854,131...70,032,366
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SMPD4
sphingomyelin phosphodiesterase 4
IAGP
HPO
OMIM:618622
NCBI chr 2:130,151,392...130,181,757
Ensembl chr 2:130,151,392...130,182,750
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SNX14
sorting nexin 14
IAGP
HPO
OMIM:616354 ORPHA:397709
NCBI chr 6:85,505,496...85,593,858
Ensembl chr 6:85,504,776...85,594,156
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SOX11
SRY-box transcription factor 11
IAGP
HPO
OMIM:615866
NCBI chr 2:5,692,384...5,701,385
Ensembl chr 2:5,692,384...5,701,385
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SOX6
SRY-box transcription factor 6
IAGP
HPO
OMIM:618971
NCBI chr11:15,966,449...16,738,477
Ensembl chr11:15,966,449...16,739,591
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SOX9
SRY-box transcription factor 9
IAGP
HPO
OMIM:114290
NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
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STAC3
SH3 and cysteine rich domain 3
IAGP
HPO
OMIM:255995
NCBI chr12:57,243,458...57,251,187
Ensembl chr12:57,243,453...57,251,188
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STT3A
STT3 oligosaccharyltransferase complex catalytic subunit A
IAGP
HPO
OMIM:619714
NCBI chr11:125,591,769...125,623,091
Ensembl chr11:125,591,712...125,625,215
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TAF4
TATA-box binding protein associated factor 4
IAGP
HPO
OMIM:620450
NCBI chr20:61,974,798...62,065,881
Ensembl chr20:61,953,469...62,065,881
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TBX1
T-box transcription factor 1
IAGP
HPO
OMIM:188400
NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
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TBX15
T-box transcription factor 15
IAGP
HPO
OMIM:260660
NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556
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THOC6
THO complex subunit 6
IAGP
HPO
OMIM:613680
NCBI chr16:3,024,035...3,027,750
Ensembl chr16:3,024,027...3,027,755
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TMEM107
transmembrane protein 107
IAGP
HPO
OMIM:617563
NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399
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TUBB
tubulin beta class I
IAGP
HPO
OMIM:156610
NCBI chr 6:30,720,352...30,725,422
Ensembl chr 6:30,717,435...30,725,538
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TXNL4A
thioredoxin like 4A
IAGP
HPO
OMIM:608572 ORPHA:1200
NCBI chr18:79,970,813...80,033,936
Ensembl chr18:79,970,813...80,033,949
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UBE2T
ubiquitin conjugating enzyme E2 T
IAGP
HPO
ORPHA:84
NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984
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UBE3B
ubiquitin protein ligase E3B
IAGP
HPO
ORPHA:2707
NCBI chr12:109,477,634...109,547,829
Ensembl chr12:109,477,402...109,536,705
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UGDH
UDP-glucose 6-dehydrogenase
IAGP
HPO
OMIM:618792
NCBI chr 4:39,498,755...39,527,439
Ensembl chr 4:39,498,755...39,528,311
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USP9X
ubiquitin specific peptidase 9 X-linked
IAGP
HPO
OMIM:300968 ORPHA:480880
NCBI chr X:41,085,445...41,236,579
Ensembl chr X:41,085,445...41,236,579
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WAC
WW domain containing adaptor with coiled-coil
IAGP
HPO
ORPHA:284169
NCBI chr10:28,532,779...28,623,112
Ensembl chr10:28,532,493...28,623,112
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XRCC2
X-ray repair cross complementing 2
IAGP
HPO
ORPHA:84
NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193
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ZBTB18
zinc finger and BTB domain containing 18
IAGP
HPO
OMIM:612337
NCBI chr 1:244,048,491...244,057,476
Ensembl chr 1:244,048,547...244,057,476
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ZMPSTE24
zinc metallopeptidase STE24
IAGP
HPO
OMIM:275210 ORPHA:1662
NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
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ZNF148
zinc finger protein 148
IAGP
HPO
OMIM:617260
NCBI chr 3:125,225,669...125,375,354
Ensembl chr 3:125,225,669...125,375,325
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