Term: Thin upper lip vermilion
Accession: HP:0000219
browse the term
Definition: Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).
Comment: Normal values for the height of the vermilion are available [Farkas, 1981], but measurements are not commonly used. Most clinicians determine this feature subjectively or use the Likert scale for Caucasians and African Americans [Astley and Clarren, 2000]. The height of the vermilion of the upper lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thinness of the upper lip vermilion is sensitive to facial expression. On profile view, a thin vermilion is less convex than usual. A thin upper lip vermilion may be associated with a smooth philtrum and an absence of the Cupid's bow, but these should be assessed separately.
Synonyms: exact_synonym: Decreased height of upper lip vermilion; Decreased volume of upper lip; Decreased volume of upper lip vermilion; Thin upper lip; Thin vermilion border of upper lip
narrow_synonym: Thin red part of the upper lip
related_synonym: THIN UPPER LIPS
alt_id: HP:0200062; HP:0200086
xref: UMLS:C1865017
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AARS1
alanyl-tRNA synthetase 1
IAGP
HPO
OMIM:619691
NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707
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ABCC9
ATP binding cassette subfamily C member 9
IAGP
HPO
OMIM:619719
NCBI chr12:21,797,389...21,941,426
Ensembl chr12:21,797,389...21,942,543
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ACTB
actin beta
IAGP
HPO
OMIM:243310 OMIM:620475
NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902
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ACTG1
actin gamma 1
IAGP
HPO
OMIM:614583
NCBI chr17:81,509,971...81,512,799
Ensembl chr17:81,509,413...81,523,847
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ADAMTSL2
ADAMTS like 2
IAGP
HPO
OMIM:231050
NCBI chr 9:133,532,164...133,575,519
Ensembl chr 9:133,532,164...133,575,519
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ADARB1
adenosine deaminase RNA specific B1
IAGP
HPO
OMIM:618862
NCBI chr21:45,074,578...45,226,563
Ensembl chr21:45,073,853...45,226,560
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ADGRG6
adhesion G protein-coupled receptor G6
IAGP
HPO
OMIM:616503
NCBI chr 6:142,302,007...142,446,261
Ensembl chr 6:142,301,854...142,446,266
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ADNP
activity dependent neuroprotector homeobox
IAGP
HPO
OMIM:615873 ORPHA:404448
NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437
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ADSL
adenylosuccinate lyase
IAGP
HPO
OMIM:103050 ORPHA:46
NCBI chr22:40,346,500...40,387,527
Ensembl chr22:40,346,461...40,390,463
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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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AFF4
ALF transcription elongation factor 4
IAGP
HPO
ORPHA:444077
NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634
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AGL
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
IAGP
HPO
OMIM:232400
NCBI chr 1:99,849,258...99,924,023
Ensembl chr 1:99,850,361...99,924,023
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AGO1
argonaute RISC component 1
IAGP
HPO
OMIM:620292
NCBI chr 1:35,869,761...35,930,532
Ensembl chr 1:35,869,808...35,930,532
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AGO2
argonaute RISC catalytic component 2
IAGP
HPO
OMIM:619149
NCBI chr 8:140,520,156...140,642,313
Ensembl chr 8:140,520,156...140,635,633
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AGR2
anterior gradient 2, protein disulphide isomerase family member
IAGP
HPO
OMIM:620233
NCBI chr 7:16,791,811...16,804,999
Ensembl chr 7:16,791,811...16,833,433
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ALG12
ALG12 alpha-1,6-mannosyltransferase
IAGP
HPO
OMIM:607143 ORPHA:79324
NCBI chr22:49,859,311...49,918,438
Ensembl chr22:49,900,229...49,918,438
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ALG9
ALG9 alpha-1,2-mannosyltransferase
IAGP
HPO
ORPHA:79328
NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581
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AMMECR1
AMMECR nuclear protein 1
IAGP
HPO
OMIM:300990
NCBI chr X:110,194,186...110,440,233
Ensembl chr X:110,194,186...110,440,318
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ANKLE2
ankyrin repeat and LEM domain containing 2
IAGP
HPO
ORPHA:2512
NCBI chr12:132,725,503...132,761,832
Ensembl chr12:132,725,503...132,761,832
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ANKRD11
ankyrin repeat domain containing 11
IAGP
HPO
ORPHA:2332
NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,630...89,490,561
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ANKRD17
ankyrin repeat domain 17
IAGP
HPO
OMIM:619504
NCBI chr 4:73,073,376...73,258,798
Ensembl chr 4:73,073,376...73,258,798
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AP2M1
adaptor related protein complex 2 subunit mu 1
IAGP
HPO
OMIM:618587 ORPHA:1942
NCBI chr 3:184,174,855...184,184,091
Ensembl chr 3:184,174,689...184,184,214
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AP3B1
adaptor related protein complex 3 subunit beta 1
IAGP
HPO
OMIM:608233
NCBI chr 5:78,000,522...78,294,698
Ensembl chr 5:78,000,522...78,294,762
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ARHGEF2
Rho/Rac guanine nucleotide exchange factor 2
IAGP
HPO
OMIM:617523
NCBI chr 1:155,946,854...155,979,617
Ensembl chr 1:155,946,851...156,007,070
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ARID1A
AT-rich interaction domain 1A
IAGP
HPO
ORPHA:1465
NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
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ARID1B
AT-rich interaction domain 1B
IAGP
ClinVar Annotator: match by term: Thin upper lip vermilion
ClinVar HPO
PMID:24674232 PMID:25741868
OMIM:135900 ORPHA:1465
NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
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ARID2
AT-rich interaction domain 2
IAGP
HPO
ORPHA:1465
NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040
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ARX
aristaless related homeobox
IAGP
HPO
OMIM:300215
NCBI chr X:25,003,694...25,015,965
Ensembl chr X:25,003,694...25,016,420
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ASPM
assembly factor for spindle microtubules
IAGP
HPO
ORPHA:2512
NCBI chr 1:197,084,127...197,146,669
Ensembl chr 1:197,084,121...197,146,694
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ASXL2
ASXL transcriptional regulator 2
IAGP
HPO
OMIM:617190
NCBI chr 2:25,733,753...25,878,487
Ensembl chr 2:25,733,753...25,878,487
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ASXL3
ASXL transcriptional regulator 3
IAGP
HPO
OMIM:615485
NCBI chr18:33,578,219...33,751,195
Ensembl chr18:33,578,219...33,751,195
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ATIC
5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
IAGP
HPO
OMIM:608688 ORPHA:250977
NCBI chr 2:215,312,059...215,368,592
Ensembl chr 2:215,311,956...215,349,773
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ATN1
atrophin 1
IAGP
HPO
OMIM:618494
NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321
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ATP6V1B2
ATPase H+ transporting V1 subunit B2
IAGP
HPO
ORPHA:79500
NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819
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ATP9A
ATPase phospholipid transporting 9A (putative)
IAGP
HPO
OMIM:620242
NCBI chr20:51,596,514...51,768,390
Ensembl chr20:51,596,514...51,768,390
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ATRX
ATRX chromatin remodeler
IAGP
HPO
OMIM:309580
NCBI chr X:77,504,880...77,786,216
Ensembl chr X:77,504,880...77,786,233
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B3GLCT
beta 3-glucosyltransferase
IAGP
HPO
OMIM:261540 ORPHA:709
NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276
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B4GALT1
beta-1,4-galactosyltransferase 1
IAGP
HPO
ORPHA:79332
NCBI chr 9:33,104,077...33,185,089
Ensembl chr 9:33,104,082...33,167,356
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BCL11A
BCL11 transcription factor A
IAGP
HPO
OMIM:617101
NCBI chr 2:60,450,520...60,553,924
Ensembl chr 2:60,450,520...60,554,467
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BCL11B
BCL11 transcription factor B
IAGP
HPO
OMIM:618092
NCBI chr14:99,169,287...99,272,197
Ensembl chr14:99,169,287...99,272,197
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BCR
BCR activator of RhoGEF and GTPase
IAGP
HPO
ORPHA:261330
NCBI chr22:23,180,509...23,318,037
Ensembl chr22:23,179,704...23,318,037
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BMP2
bone morphogenetic protein 2
IAGP
HPO
OMIM:617877
NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246
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BPTF
bromodomain PHD finger transcription factor
IAGP
HPO
OMIM:617755 ORPHA:529962
NCBI chr17:67,825,503...67,984,378
Ensembl chr17:67,825,503...67,984,378
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BUB1
BUB1 mitotic checkpoint serine/threonine kinase
IAGP
HPO
OMIM:620183
NCBI chr 2:110,637,528...110,678,063
Ensembl chr 2:110,637,528...110,678,063
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CACNA1C
calcium voltage-gated channel subunit alpha1 C
IAGP
HPO
OMIM:601005 OMIM:620029
NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950
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CCNK
cyclin K
IAGP
HPO
OMIM:618147
NCBI chr14:99,481,409...99,512,440
Ensembl chr14:99,481,169...99,535,044
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CCNQ
cyclin Q
IAGP
HPO
OMIM:300707 ORPHA:140952
NCBI chr X:153,587,925...153,599,139
Ensembl chr X:153,587,925...153,600,045
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CDC42
cell division cycle 42
IAGP
HPO
OMIM:616737 ORPHA:487796
NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360
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CDC42BPB
CDC42 binding protein kinase beta
IAGP
HPO
OMIM:619841
NCBI chr14:102,932,380...103,057,549
Ensembl chr14:102,932,380...103,057,549
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CDH11
cadherin 11
IAGP
HPO
OMIM:211380 OMIM:619736
NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112
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CDH2
cadherin 2
IAGP
HPO
OMIM:618929
NCBI chr18:27,932,879...28,177,130
Ensembl chr18:27,932,879...28,177,946
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CDK10
cyclin dependent kinase 10
IAGP
HPO
OMIM:617694
NCBI chr16:89,686,689...89,696,354
Ensembl chr16:89,680,737...89,696,354
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CDK13
cyclin dependent kinase 13
IAGP
DNA:Mutations:cds :
HPO RGD
PMID:28807008
OMIM:617360 , RGD:155631312
NCBI chr 7:39,950,256...40,099,580
Ensembl chr 7:39,950,121...40,099,580
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CDK5RAP2
CDK5 regulatory subunit associated protein 2
IAGP
HPO
ORPHA:2512
NCBI chr 9:120,388,875...120,580,167
Ensembl chr 9:120,388,875...120,580,170
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CDK6
cyclin dependent kinase 6
IAGP
HPO
ORPHA:2512
NCBI chr 7:92,604,921...92,836,573
Ensembl chr 7:92,604,921...92,836,573
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CENPE
centromere protein E
IAGP
HPO
ORPHA:2512
NCBI chr 4:103,105,811...103,198,343
Ensembl chr 4:103,105,349...103,198,445
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CENPJ
centromere protein J
IAGP
HPO
ORPHA:2512
NCBI chr13:24,882,279...24,934,000
Ensembl chr13:24,882,279...24,922,889
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CEP135
centrosomal protein 135
IAGP
HPO
ORPHA:2512
NCBI chr 4:55,948,945...56,033,361
Ensembl chr 4:55,948,871...56,033,361
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CEP152
centrosomal protein 152
IAGP
HPO
ORPHA:2512
NCBI chr15:48,729,083...48,811,069
Ensembl chr15:48,712,928...48,811,146
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CEP63
centrosomal protein 63
IAGP
HPO
ORPHA:2512
NCBI chr 3:134,485,724...134,782,559
Ensembl chr 3:134,485,699...134,587,789
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CHAMP1
chromosome alignment maintaining phosphoprotein 1
IAGP
HPO
OMIM:616579
NCBI chr13:114,314,503...114,327,322
Ensembl chr13:114,314,482...114,337,626
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CHD2
chromodomain helicase DNA binding protein 2
IAGP
HPO
ORPHA:1942
NCBI chr15:92,900,324...93,027,996
Ensembl chr15:92,886,203...93,027,996
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CHST14
carbohydrate sulfotransferase 14
IAGP
DNA:frameshift mutations, missense mutations:CDS:multiple
HPO RGD
PMID:26373698
OMIM:601776 ORPHA:2953 , RGD:11061906
NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158
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CIT
citron rho-interacting serine/threonine kinase
IAGP
HPO
ORPHA:2512
NCBI chr12:119,685,791...119,877,320
Ensembl chr12:119,685,791...119,877,320
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CLCN3
chloride voltage-gated channel 3
IAGP
HPO
OMIM:619517
NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,633...169,723,673
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CLCN6
chloride voltage-gated channel 6
IAGP
HPO
OMIM:619173
NCBI chr 1:11,806,191...11,843,130
Ensembl chr 1:11,806,096...11,848,079
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CLP1
cleavage factor polyribonucleotide kinase subunit 1
IAGP
HPO
OMIM:615803
NCBI chr11:57,657,762...57,661,865
Ensembl chr11:57,648,188...57,661,865
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CLTC
clathrin heavy chain
IAGP
HPO
OMIM:617854
NCBI chr17:59,619,895...59,696,956
Ensembl chr17:59,619,684...59,696,956
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CNOT2
CCR4-NOT transcription complex subunit 2
IAGP
HPO
OMIM:618608
NCBI chr12:70,243,018...70,354,993
Ensembl chr12:70,243,002...70,354,993
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COG1
component of oligomeric golgi complex 1
IAGP
HPO
OMIM:611209 ORPHA:263508
NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,055...73,208,507
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COPB2
COPI coat complex subunit beta 2
IAGP
HPO
ORPHA:2512
NCBI chr 3:139,357,406...139,389,680
Ensembl chr 3:139,353,946...139,389,736
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CPLX1
complexin 1
IAGP
HPO
OMIM:617976
NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129
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CREBBP
CREB binding protein
IAGP
ClinVar Annotator: match by term: Thin upper lip vermilion
ClinVar HPO
PMID:25741868 PMID:28492532 PMID:29460469 PMID:30755392
OMIM:180849 OMIM:618332
NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
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CRKL
CRK like proto-oncogene, adaptor protein
IAGP
HPO
ORPHA:261330
NCBI chr22:20,917,407...20,953,747
Ensembl chr22:20,917,407...20,953,747
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CSNK2A1
casein kinase 2 alpha 1
IAGP
HPO
OMIM:617062
NCBI chr20:472,498...543,790
Ensembl chr20:472,498...543,835
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CSNK2B
casein kinase 2 beta
IAGP
ClinVar Annotator: match by term: Thin upper lip vermilion
ClinVar
PMID:25741868 PMID:28492532 PMID:33644862 PMID:34041744
NCBI chr 6:31,666,080...31,670,067
Ensembl chr 6:31,665,227...31,670,343
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CTCF
CCCTC-binding factor
IAGP
HPO
ORPHA:363611
NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177
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CTNNB1
catenin beta 1
IAGP
HPO
OMIM:615075 ORPHA:404473
NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
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CUX1
cut like homeobox 1
IAGP
HPO
OMIM:618330
NCBI chr 7:101,816,007...102,283,958
Ensembl chr 7:101,815,904...102,283,958
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DCPS
decapping enzyme, scavenger
IAGP
HPO
OMIM:616459
NCBI chr11:126,304,060...126,350,005
Ensembl chr11:126,304,060...126,350,005
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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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DDX59
DEAD-box helicase 59
IAGP
HPO
OMIM:174300
NCBI chr 1:200,640,805...200,669,907
Ensembl chr 1:200,623,896...200,669,907
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DEAF1
DEAF1 transcription factor
IAGP
ClinVar Annotator: match by term: Thin upper lip vermilion
ClinVar
PMID:25741868 PMID:28492532
NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118
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DHPS
deoxyhypusine synthase
IAGP
HPO
OMIM:618480
NCBI chr19:12,672,470...12,681,880
Ensembl chr19:12,675,717...12,681,880
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DPF2
double PHD fingers 2
IAGP
HPO
OMIM:618027 ORPHA:1465
NCBI chr11:65,333,852...65,354,262
Ensembl chr11:65,333,843...65,354,262
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DPM2
dolichyl-phosphate mannosyltransferase subunit 2, regulatory
IAGP
HPO
OMIM:615042 ORPHA:329178
NCBI chr 9:127,935,099...127,937,854
Ensembl chr 9:127,935,099...127,937,854
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DSE
dermatan sulfate epimerase
IAGP
HPO
ORPHA:2953
NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,254,173...116,444,861
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DVL1
dishevelled segment polarity protein 1
IAGP
HPO
OMIM:180700 OMIM:616331
NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
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DYRK1A
dual specificity tyrosine phosphorylation regulated kinase 1A
IAGP
HPO
OMIM:614104
NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358
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EBF3
EBF transcription factor 3
IAGP
HPO
OMIM:617330
NCBI chr10:129,835,233...129,964,274
Ensembl chr10:129,835,233...129,973,053
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EDEM3
ER degradation enhancing alpha-mannosidase like protein 3
IAGP
HPO
OMIM:619493
NCBI chr 1:184,690,237...184,754,858
Ensembl chr 1:184,690,237...184,754,907
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EIF5A
eukaryotic translation initiation factor 5A
IAGP
HPO
OMIM:619376
NCBI chr17:7,306,999...7,312,463
Ensembl chr17:7,306,999...7,312,463
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EP300
E1A binding protein p300
IAGP
HPO
OMIM:180849 OMIM:618333
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
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EXOC2
exocyst complex component 2
IAGP
HPO
OMIM:619306
NCBI chr 6:485,154...693,139
Ensembl chr 6:485,154...693,139
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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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EXT1
exostosin glycosyltransferase 1
IAGP
HPO
ORPHA:502
NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826
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FAR1
fatty acyl-CoA reductase 1
IAGP
HPO
OMIM:616154 ORPHA:438178
NCBI chr11:13,668,668...13,732,346
Ensembl chr11:13,668,668...13,732,346
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FBN1
fibrillin 1
IAGP
HPO
OMIM:614185
NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
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FIG4
FIG4 phosphoinositide 5-phosphatase
IAGP
HPO
OMIM:216340
NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098
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FOXG1
forkhead box G1
IAGP
HPO
OMIM:613454
NCBI chr14:28,766,787...28,770,277
Ensembl chr14:28,764,329...28,770,277
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GAD1
glutamate decarboxylase 1
IAGP
HPO
OMIM:619124
NCBI chr 2:170,813,210...170,861,151
Ensembl chr 2:170,813,213...170,861,151
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GATAD2B
GATA zinc finger domain containing 2B
IAGP
HPO
OMIM:615074 ORPHA:363686
NCBI chr 1:153,804,725...153,922,972
Ensembl chr 1:153,789,030...153,923,360
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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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GLIS3
GLIS family zinc finger 3
IAGP
HPO
OMIM:610199
NCBI chr 9:3,824,127...4,490,465
Ensembl chr 9:3,824,127...4,348,392
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GNAI1
G protein subunit alpha i1
IAGP
HPO
OMIM:619854
NCBI chr 7:80,134,831...80,226,181
Ensembl chr 7:79,768,028...80,226,181
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GNB2
G protein subunit beta 2
IAGP
HPO
OMIM:619503
NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174
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GNE
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
IAGP
HPO
OMIM:269921 ORPHA:3166
NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042
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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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HDAC8
histone deacetylase 8
IAGP
HPO
ORPHA:3459
NCBI chr X:72,329,516...72,572,843
Ensembl chr X:72,329,516...72,573,101
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HERC2
HECT and RLD domain containing E3 ubiquitin protein ligase 2
IAGP
HPO
OMIM:176270
NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179
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HIVEP2
HIVEP zinc finger 2
IAGP
HPO
OMIM:616977
NCBI chr 6:142,751,469...142,946,365
Ensembl chr 6:142,751,469...142,956,698
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HK1
hexokinase 1
IAGP
HPO
OMIM:618547
NCBI chr10:69,270,000...69,401,882
Ensembl chr10:69,269,984...69,401,884
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HNRNPC
heterogeneous nuclear ribonucleoprotein C
IAGP
HPO
OMIM:620688
NCBI chr14:21,209,147...21,269,442
Ensembl chr14:21,209,136...21,269,494
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HS2ST1
heparan sulfate 2-O-sulfotransferase 1
IAGP
HPO
OMIM:619194
NCBI chr 1:86,914,635...87,109,982
Ensembl chr 1:86,914,635...87,109,982
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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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IFIH1
interferon induced with helicase C domain 1
IAGP
HPO
OMIM:182250
NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
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IFT43
intraflagellar transport 43
IAGP
HPO
OMIM:617866
NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585
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IGF1R
insulin like growth factor 1 receptor
IAGP
HPO
OMIM:270450
NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530
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INTS11
integrator complex subunit 11
IAGP
HPO
OMIM:620428
NCBI chr 1:1,311,600...1,324,660
Ensembl chr 1:1,311,585...1,324,687
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IPW
imprinted in Prader-Willi syndrome
IAGP
HPO
OMIM:176270
NCBI chr15:25,116,545...25,122,476
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IRF6
interferon regulatory factor 6
IAGP
HPO
ORPHA:1300
NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
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IRX5
iroquois homeobox 5
IAGP
HPO
OMIM:611174
NCBI chr16:54,930,865...54,934,485
Ensembl chr16:54,930,865...54,934,485
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KAT6A
lysine acetyltransferase 6A
IAGP
HPO
OMIM:616268 ORPHA:457193
NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994
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KAT6B
lysine acetyltransferase 6B
IAGP
HPO
OMIM:603736
NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624
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KATNB1
katanin regulatory subunit B1
IAGP
HPO
OMIM:616212
NCBI chr16:57,735,770...57,757,244
Ensembl chr16:57,735,739...57,757,244
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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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KCNK4
potassium two pore domain channel subfamily K member 4
IAGP
HPO
OMIM:618381
NCBI chr11:64,291,302...64,300,031
Ensembl chr11:64,291,302...64,300,031
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KCNMA1
potassium calcium-activated channel subfamily M alpha 1
IAGP
HPO
OMIM:618729
NCBI chr10:76,869,602...77,637,808
Ensembl chr10:76,869,601...77,638,369
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KDM1A
lysine demethylase 1A
IAGP
HPO
OMIM:616728 ORPHA:477993
NCBI chr 1:23,019,468...23,083,689
Ensembl chr 1:23,019,443...23,083,689
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KDM3B
lysine demethylase 3B
IAGP
HPO
OMIM:618846
NCBI chr 5:138,352,685...138,437,027
Ensembl chr 5:138,352,685...138,437,028
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KDM5C
lysine demethylase 5C
IAGP
HPO
OMIM:300534
NCBI chr X:53,176,277...53,225,207
Ensembl chr X:53,176,283...53,225,422
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KIF11
kinesin family member 11
IAGP
HPO
OMIM:152950
NCBI chr10:92,593,130...92,655,395
Ensembl chr10:92,574,105...92,655,395
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KIF14
kinesin family member 14
IAGP
HPO
ORPHA:2512
NCBI chr 1:200,551,497...200,620,751
Ensembl chr 1:200,551,497...200,620,751
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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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KMT2D
lysine methyltransferase 2D
IAGP
HPO
OMIM:620186
NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
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KNL1
kinetochore scaffold 1
IAGP
HPO
ORPHA:2512
NCBI chr15:40,594,249...40,664,342
Ensembl chr15:40,594,020...40,664,342
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LAS1L
LAS1 like ribosome biogenesis factor
IAGP
HPO
ORPHA:3459
NCBI chr X:65,512,582...65,534,787
Ensembl chr X:65,438,549...65,534,810
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LMBRD1
LMBR1 domain containing 1
IAGP
HPO
OMIM:277380
NCBI chr 6:69,674,010...69,797,010
Ensembl chr 6:69,672,757...69,867,236
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MAF
MAF bZIP transcription factor
IAGP
HPO
OMIM:601088 ORPHA:1272
NCBI chr16:79,202,622...79,600,737
Ensembl chr16:79,585,843...79,600,737
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MAGEL2
MAGE family member L2
IAGP
HPO
OMIM:176270 ORPHA:177901 ORPHA:398069
NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867
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MAN1B1
mannosidase alpha class 1B member 1
IAGP
HPO
OMIM:614202 ORPHA:397941
NCBI chr 9:137,086,985...137,109,183
Ensembl chr 9:137,086,857...137,109,189
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MAPK1
mitogen-activated protein kinase 1
IAGP
HPO
ORPHA:261330
NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
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MAPK8IP3
mitogen-activated protein kinase 8 interacting protein 3
IAGP
HPO
OMIM:618443
NCBI chr16:1,706,195...1,770,351
Ensembl chr16:1,706,166...1,770,351
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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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MBD5
methyl-CpG binding domain protein 5
IAGP
HPO
OMIM:156200
NCBI chr 2:148,020,927...148,516,971
Ensembl chr 2:148,021,011...148,516,971
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MCM7
minichromosome maintenance complex component 7
IAGP
HPO
ORPHA:2512
NCBI chr 7:100,092,728...100,101,397
Ensembl chr 7:100,092,233...100,101,940
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MCPH1
microcephalin 1
IAGP
HPO
ORPHA:2512
NCBI chr 8:6,406,627...6,648,508
Ensembl chr 8:6,406,592...6,648,508
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MCTP2
multiple C2 and transmembrane domain containing 2
IAGP
HPO
ORPHA:1596
NCBI chr15:94,231,366...94,483,952
Ensembl chr15:94,231,538...94,483,952
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MED12
mediator complex subunit 12
IAGP
HPO
OMIM:309520
NCBI chr X:71,118,596...71,142,450
Ensembl chr X:71,118,543...71,144,103
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MED12L
mediator complex subunit 12L
IAGP
HPO
OMIM:618872
NCBI chr 3:151,085,664...151,436,653
Ensembl chr 3:151,085,286...151,437,072
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MED13
mediator complex subunit 13
IAGP
HPO
OMIM:618009
NCBI chr17:61,942,605...62,065,278
Ensembl chr17:61,942,605...62,065,278
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MEF2C
myocyte enhancer factor 2C
IAGP
HPO
OMIM:613443
NCBI chr 5:88,717,117...88,904,105
Ensembl chr 5:88,717,117...88,904,257
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MEIS2
Meis homeobox 2
IAGP
HPO
OMIM:600987
NCBI chr15:36,889,204...37,101,311
Ensembl chr15:36,889,204...37,101,299
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METTL5
methyltransferase 5, N6-adenosine
IAGP
HPO
OMIM:618665 ORPHA:2512
NCBI chr 2:169,811,757...169,824,905
Ensembl chr 2:169,810,081...169,824,931
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MFSD2A
MFSD2 lysolipid transporter A, lysophospholipid
IAGP
HPO
ORPHA:2512
NCBI chr 1:39,955,145...39,969,956
Ensembl chr 1:39,955,112...39,969,968
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MID1
midline 1
IAGP
HPO
OMIM:300000
NCBI chr X:10,445,310...10,833,683
Ensembl chr X:10,445,310...10,833,654
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MKRN3
makorin ring finger protein 3
IAGP
HPO
OMIM: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
OMIM:176270
G
MKS1
MKS transition zone complex subunit 1
IAGP
HPO
OMIM:249000
NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
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MPC1
mitochondrial pyruvate carrier 1
IAGP
HPO
OMIM:614741
NCBI chr 6:166,364,919...166,382,940
Ensembl chr 6:166,364,919...166,383,013
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MTOR
mechanistic target of rapamycin kinase
IAGP
HPO
OMIM:616638
NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
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MYMX
myomixer, myoblast fusion factor
IAGP
HPO
OMIM:619941
NCBI chr 6:44,192,721...44,218,234
Ensembl chr 6:44,216,926...44,218,234
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MYO18B
myosin XVIIIB
IAGP
HPO
OMIM:616549
NCBI chr22:25,742,188...26,063,847
Ensembl chr22:25,742,144...26,031,045
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NAA10
N-alpha-acetyltransferase 10, NatA catalytic subunit
IAGP
HPO
OMIM:300855
NCBI chr X:153,929,225...153,935,037
Ensembl chr X:153,929,225...153,935,080
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NALCN
sodium leak channel, non-selective
IAGP
HPO
OMIM:615419 ORPHA:371364
NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508
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NCAPD3
non-SMC condensin II complex subunit D3
IAGP
HPO
ORPHA:2512
NCBI chr11:134,150,113...134,225,461
Ensembl chr11:134,150,113...134,225,504
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NDN
necdin, MAGE family member
IAGP
HPO
ORPHA:177901
NCBI chr15:23,685,400...23,687,305
Ensembl chr15:23,685,400...23,687,305
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NEXMIF
neurite extension and migration factor
IAGP
HPO
ORPHA:1942
NCBI chr X:74,732,856...74,925,452
Ensembl chr X:74,732,856...74,925,472
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NFIA
nuclear factor I A
IAGP
HPO
OMIM:613735
NCBI chr 1:61,077,227...61,462,788
Ensembl chr 1:60,865,259...61,462,788
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NIPBL
NIPBL cohesin loading factor
IAGP
HPO
OMIM:122470
NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413
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NOG
noggin
IAGP
HPO
OMIM:186500
NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
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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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NPAP1
nuclear pore associated protein 1
IAGP
HPO
OMIM:176270
NCBI chr15:24,675,775...24,683,393
Ensembl chr15:24,675,775...24,683,393
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NUP37
nucleoporin 37
IAGP
HPO
ORPHA:2512
NCBI chr12:102,073,103...102,120,114
Ensembl chr12:102,073,103...102,120,120
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OCA2
OCA2 melanosomal transmembrane protein
IAGP
HPO
ORPHA:177901
NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315
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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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ODC1
ornithine decarboxylase 1
IAGP
HPO
OMIM:619075
NCBI chr 2:10,439,968...10,448,327
Ensembl chr 2:10,439,968...10,448,327
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OFD1
OFD1 centriole and centriolar satellite protein
IAGP
DNA:frameshift mutations, missense mutation, splice-site mutation:multiple
RGD
PMID:11950863
RGD:11535958
NCBI chr X:13,714,505...13,773,738
Ensembl chr X:13,734,743...13,777,955
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OGT
O-linked N-acetylglucosamine (GlcNAc) transferase
IAGP
HPO
OMIM:300997
NCBI chr X:71,533,104...71,575,892
Ensembl chr X:71,533,087...71,575,892
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OPHN1
oligophrenin 1
IAGP
HPO
OMIM:300486
NCBI chr X:68,042,344...68,433,841
Ensembl chr X:67,949,349...68,433,913
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OTUD6B
OTU deubiquitinase 6B
IAGP
HPO
OMIM:617452 ORPHA:505237
NCBI chr 8:91,070,344...91,087,093
Ensembl chr 8:91,070,196...91,087,095
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PACS1
phosphofurin acidic cluster sorting protein 1
IAGP
HPO
OMIM:615009 ORPHA:329224
NCBI chr11:66,070,272...66,244,744
Ensembl chr11:66,070,272...66,244,744
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PACS2
phosphofurin acidic cluster sorting protein 2
IAGP
HPO
OMIM:618067
NCBI chr14:105,300,774...105,398,147
Ensembl chr14:105,300,563...105,398,147
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PAK3
p21 (RAC1) activated kinase 3
IAGP
HPO
OMIM:300558
NCBI chr X:110,944,397...111,227,361
Ensembl chr X:110,944,285...111,227,361
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PBX1
PBX homeobox 1
IAGP
HPO
OMIM:617641
NCBI chr 1:164,559,184...164,886,047
Ensembl chr 1:164,555,584...164,899,296
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PCGF2
polycomb group ring finger 2
IAGP
HPO
OMIM:618371
NCBI chr17:38,733,898...38,749,792
Ensembl chr17:38,733,898...38,749,817
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PDE4D
phosphodiesterase 4D
IAGP
HPO
ORPHA:439822
NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120
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PDGFRB
platelet derived growth factor receptor beta
IAGP
HPO
OMIM:616592
NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
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PGAP3
post-GPI attachment to proteins phospholipase 3
IAGP
HPO
OMIM:615716
NCBI chr17:39,671,122...39,688,057
Ensembl chr17:39,671,122...39,696,797
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PGM2L1
phosphoglucomutase 2 like 1
IAGP
HPO
OMIM:620191
NCBI chr11:74,330,316...74,398,433
Ensembl chr11:74,330,316...74,398,433
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PHC1
polyhomeotic homolog 1
IAGP
HPO
ORPHA:2512
NCBI chr12:8,913,843...8,941,467
Ensembl chr12:8,913,896...8,941,467
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PIEZO2
piezo type mechanosensitive ion channel component 2
IAGP
HPO
OMIM:617146
NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569
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PIGG
phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)
IAGP
HPO
ORPHA:488635
NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200
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PIGK
phosphatidylinositol glycan anchor biosynthesis class K
IAGP
HPO
OMIM:618879
NCBI chr 1:77,088,989...77,219,430
Ensembl chr 1:77,088,989...77,219,430
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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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PIGQ
phosphatidylinositol glycan anchor biosynthesis class Q
IAGP
HPO
OMIM:618548
NCBI chr16:569,968...584,109
Ensembl chr16:566,995...584,109
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PIGU
phosphatidylinositol glycan anchor biosynthesis class U
IAGP
HPO
OMIM:618590
NCBI chr20:34,560,542...34,677,092
Ensembl chr20:34,560,542...34,698,790
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PIGV
phosphatidylinositol glycan anchor biosynthesis class V
IAGP
HPO
OMIM:239300
NCBI chr 1:26,787,054...26,800,659
Ensembl chr 1:26,787,054...26,800,659
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PITX2
paired like homeodomain 2
IAGP
HPO
OMIM:180500
NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123
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PLPBP
pyridoxal phosphate binding protein
IAGP
HPO
OMIM:617290
NCBI chr 8:37,762,546...37,779,768
Ensembl chr 8:37,762,595...37,779,768
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PMM2
phosphomannomutase 2
IAGP
HPO
OMIM:212065 ORPHA:79318
NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534
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POGZ
pogo transposable element derived with ZNF domain
IAGP
HPO
ORPHA:468678
NCBI chr 1:151,402,724...151,459,494
Ensembl chr 1:151,402,724...151,459,494
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POLR3A
RNA polymerase III subunit A
IAGP
HPO
ORPHA:3455
NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522
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PPM1D
protein phosphatase, Mg2+/Mn2+ dependent 1D
IAGP
HPO
OMIM:617450
NCBI chr17:60,600,193...60,666,280
Ensembl chr17:60,600,193...60,666,280
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PPP1CB
protein phosphatase 1 catalytic subunit beta
IAGP
HPO
OMIM:617506
NCBI chr 2:28,751,604...28,802,940
Ensembl chr 2:28,751,640...28,802,940
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PPP1R15B
protein phosphatase 1 regulatory subunit 15B
IAGP
HPO
ORPHA:391408
NCBI chr 1:204,395,826...204,411,817
Ensembl chr 1:204,396,492...204,411,887
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PPP2R5D
protein phosphatase 2 regulatory subunit B'delta
IAGP
HPO
ORPHA:457279
NCBI chr 6:42,984,570...43,012,342
Ensembl chr 6:42,984,553...43,012,342
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PQBP1
polyglutamine binding protein 1
IAGP
HPO
OMIM:309500
NCBI chr X:48,897,930...48,903,143
Ensembl chr X:48,890,197...48,903,402
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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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PRKDC
protein kinase, DNA-activated, catalytic subunit
IAGP
HPO
OMIM:615966
NCBI chr 8:47,773,111...47,960,136
Ensembl chr 8:47,773,111...47,960,178
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PSMD12
proteasome 26S subunit, non-ATPase 12
IAGP
HPO
ORPHA:529962
NCBI chr17:67,337,916...67,366,577
Ensembl chr17:67,337,916...67,366,605
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PTRH2
peptidyl-tRNA hydrolase 2
IAGP
HPO
OMIM:616263 ORPHA:456312
NCBI chr17:59,697,308...59,707,430
Ensembl chr17:59,674,636...59,707,626
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PUF60
poly(U) binding splicing factor 60
IAGP
HPO
OMIM:615583 ORPHA:508488 ORPHA:508498
NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709
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PURA
purine rich element binding protein A
IAGP
HPO
ORPHA:438216
NCBI chr 5:140,114,109...140,125,619
Ensembl chr 5:140,107,777...140,125,619
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PWAR1
Prader Willi/Angelman region RNA 1
IAGP
HPO
OMIM: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
OMIM:176270
NCBI chr15:24,558,157...24,587,780
Ensembl chr15:24,101,827...24,823,365
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PYCR2
pyrroline-5-carboxylate reductase 2
IAGP
HPO
ORPHA:2512
NCBI chr 1:225,919,878...225,924,250
Ensembl chr 1:225,919,877...225,924,340
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QRICH1
glutamine rich 1
IAGP
HPO
OMIM:617982
NCBI chr 3:49,029,707...49,094,373
Ensembl chr 3:49,029,707...49,094,363
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RAD21
RAD21 cohesin complex component
IAGP
HPO
OMIM:614701 ORPHA:502
NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776
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RAI1
retinoic acid induced 1
IAGP
HPO
ORPHA:477817
NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453
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RALA
RAS like proto-oncogene A
IAGP
HPO
OMIM:619311
NCBI chr 7:39,623,572...39,708,120
Ensembl chr 7:39,623,565...39,708,120
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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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RFX7
regulatory factor X7
IAGP
HPO
OMIM:620330
NCBI chr15:56,087,280...56,245,082
Ensembl chr15:56,087,280...56,245,082
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RHOBTB2
Rho related BTB domain containing 2
IAGP
HPO
OMIM:618004
NCBI chr 8:22,950,813...23,020,199
Ensembl chr 8:22,987,417...23,020,509
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RNF135
ring finger protein 135
IAGP
HPO
ORPHA:137634
NCBI chr17:30,958,921...30,999,911
Ensembl chr17:30,970,984...30,999,911
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RNU4ATAC
RNA, U4atac small nuclear
IAGP
HPO
OMIM:616651 ORPHA:353298
NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007
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ROR2
receptor tyrosine kinase like orphan receptor 2
IAGP
HPO
OMIM:268310
NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228
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RPL10
ribosomal protein L10
IAGP
HPO
OMIM:300998 ORPHA:435938 ORPHA:459070
NCBI chr X:154,398,065...154,402,339
Ensembl chr X:154,389,955...154,409,168
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SARS1
seryl-tRNA synthetase 1
IAGP
HPO
ORPHA:2512
NCBI chr 1:109,213,893...109,238,182
Ensembl chr 1:109,213,918...109,238,182
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SASS6
SAS-6 centriolar assembly protein
IAGP
HPO
ORPHA:2512
NCBI chr 1:100,083,570...100,132,930
Ensembl chr 1:100,083,563...100,132,955
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SATB2
SATB homeobox 2
IAGP
HPO
ORPHA:576283
NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266
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SCN1A
sodium voltage-gated channel alpha subunit 1
IAGP
HPO
ORPHA:1942
NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,149,214
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SEC23A
SEC23 homolog A, COPII coat complex component
IAGP
HPO
OMIM:607812
NCBI chr14:39,031,919...39,103,235
Ensembl chr14:39,031,919...39,109,646
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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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SETD5
SET domain containing 5
IAGP
HPO
OMIM:615761 ORPHA:404440
NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,615...9,479,240
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SH3PXD2B
SH3 and PX domains 2B
IAGP
HPO
OMIM:249420
NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,525
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SHMT2
serine hydroxymethyltransferase 2
IAGP
HPO
OMIM:619121
NCBI chr12:57,229,711...57,234,935
Ensembl chr12:57,229,573...57,234,935
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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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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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SLC26A2
solute carrier family 26 member 2
IAGP
HPO
ORPHA:56304
NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
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SLC2A1
solute carrier family 2 member 1
IAGP
HPO
ORPHA:1942
NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893
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SLC6A1
solute carrier family 6 member 1
IAGP
HPO
ORPHA:1942
NCBI chr 3:10,992,748...11,039,247
Ensembl chr 3:10,992,186...11,039,247
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SLC9A7
solute carrier family 9 member A7
IAGP
HPO
OMIM:301024
NCBI chr X:46,599,251...46,759,118
Ensembl chr X:46,599,251...46,759,118
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SMAD4
SMAD family member 4
IAGP
HPO
OMIM:139210
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
OMIM:601358 OMIM:619293
NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624
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SMARCA4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
IAGP
HPO
OMIM:614609 ORPHA:1465
NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426
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SMARCB1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
IAGP
HPO
ORPHA:1465
NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
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SMARCC2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2
IAGP
HPO
OMIM:618362 ORPHA:1465
NCBI chr12:56,162,359...56,189,483
Ensembl chr12:56,162,359...56,189,567
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SMARCD1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1
IAGP
HPO
ORPHA:1465
NCBI chr12:50,085,342...50,100,707
Ensembl chr12:50,085,200...50,100,707
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SMARCE1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
IAGP
HPO
OMIM:616938 ORPHA:1465
NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654
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SMC1A
structural maintenance of chromosomes 1A
IAGP
HPO
OMIM:300590 OMIM:301044
NCBI chr X:53,374,149...53,422,728
Ensembl chr X:53,374,149...53,422,728
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SMC3
structural maintenance of chromosomes 3
IAGP
associated with Cornelia de Lange syndrome; DNA:missense mutations, deletions:exons:
HPO RGD
PMID:25655089
OMIM:610759 , RGD:155882445
NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,684...110,606,048
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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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SNORD115-1
small nucleolar RNA, C/D box 115-1
IAGP
HPO
OMIM: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
OMIM:176270
NCBI chr15:25,051,476...25,051,572
Ensembl chr15:25,051,477...25,051,571
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SNRPN
small nuclear ribonucleoprotein polypeptide N
IAGP
HPO
ORPHA:177901 ORPHA:177907
NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723
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SOX11
SRY-box transcription factor 11
IAGP
HPO
ORPHA:1465
NCBI chr 2:5,692,384...5,701,385
Ensembl chr 2:5,692,384...5,701,385
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SOX4
SRY-box transcription factor 4
IAGP
HPO
ORPHA:1465
NCBI chr 6:21,593,751...21,598,619
Ensembl chr 6:21,593,751...21,598,619
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SPECC1L
sperm antigen with calponin homology and coiled-coil domains 1 like
IAGP
HPO
OMIM:145420
NCBI chr22:24,270,831...24,417,738
Ensembl chr22:24,270,817...24,417,739
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SPEN
spen family transcriptional repressor
IAGP
HPO
OMIM:619312
NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456
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SPTBN1
spectrin beta, non-erythrocytic 1
IAGP
HPO
OMIM:619475
NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446
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SRCAP
Snf2 related CREBBP activator protein
IAGP
HPO
OMIM:136140 OMIM:619595
NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409
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SRRM2
serine/arginine repetitive matrix 2
IAGP
HPO
OMIM:620439
NCBI chr16:2,752,638...2,771,412
Ensembl chr16:2,752,626...2,772,538
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STAG2
STAG2 cohesin complex component
IAGP
HPO
OMIM:301022
NCBI chr X:123,960,560...124,102,656
Ensembl chr X:123,960,212...124,422,664
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STEEP1
STING1 ER exit protein 1
IAGP
HPO
OMIM:301013
NCBI chr X:119,538,149...119,565,409
Ensembl chr X:119,538,149...119,565,409
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STIL
STIL centriolar assembly protein
IAGP
HPO
ORPHA:2512
NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892
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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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SYNGAP1
synaptic Ras GTPase activating protein 1
IAGP
HPO
ORPHA:1942
NCBI chr 6:33,418,167...33,453,689
Ensembl chr 6:33,419,661...33,453,689
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SYT1
synaptotagmin 1
IAGP
HPO
OMIM:618218 ORPHA:522077
NCBI chr12:78,863,982...79,452,008
Ensembl chr12:78,863,993...79,452,008
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TAF1
TATA-box binding protein associated factor 1
IAGP
HPO
OMIM:300966 ORPHA:480907
NCBI chr X:71,366,357...71,530,525
Ensembl chr X:71,366,222...71,532,374
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TAF13
TATA-box binding protein associated factor 13
IAGP
HPO
ORPHA:2512
NCBI chr 1:109,064,140...109,076,003
Ensembl chr 1:109,062,496...109,076,012
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TAF6
TATA-box binding protein associated factor 6
IAGP
HPO
OMIM:617126
NCBI chr 7:100,107,070...100,127,171
Ensembl chr 7:100,106,876...100,119,841
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TASP1
taspase 1
IAGP
HPO
OMIM:618950
NCBI chr20:13,104,772...13,638,932
Ensembl chr20:13,389,392...13,638,932
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TBC1D24
TBC1 domain family member 24
IAGP
HPO
OMIM:220500 ORPHA:79500
NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560
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TBCE
tubulin folding cofactor E
IAGP
HPO
OMIM:241410
NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443
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TBL1XR1
TBL1X/Y related 1
IAGP
HPO
ORPHA:487825
NCBI chr 3:177,019,344...177,201,800
Ensembl chr 3:177,019,340...177,228,000
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TCF20
transcription factor 20
IAGP
HPO
OMIM:618430
NCBI chr22:42,160,013...42,343,537
Ensembl chr22:42,160,013...42,343,616
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THUMPD1
THUMP domain containing 1
IAGP
HPO
OMIM:619989
NCBI chr16:20,733,664...20,741,818
Ensembl chr16:20,702,816...20,742,084
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TLK2
tousled like kinase 2
IAGP
HPO
OMIM:618050
NCBI chr17:62,470,914...62,615,481
Ensembl chr17:62,458,658...62,615,481
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TMEM147
transmembrane protein 147
IAGP
HPO
OMIM:620075
NCBI chr19:35,545,626...35,547,526
Ensembl chr19:35,545,600...35,547,526
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TMEM94
transmembrane protein 94
IAGP
HPO
OMIM:618316
NCBI chr17:75,456,635...75,500,452
Ensembl chr17:75,441,159...75,500,452
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TNRC6B
trinucleotide repeat containing adaptor 6B
IAGP
HPO
OMIM:619243
NCBI chr22:40,044,834...40,335,808
Ensembl chr22:40,044,817...40,335,808
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TPR
translocated promoter region, nuclear basket protein
IAGP
HPO
OMIM:620393
NCBI chr 1:186,311,652...186,375,253
Ensembl chr 1:186,311,652...186,375,693
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TRAPPC10
trafficking protein particle complex subunit 10
IAGP
HPO
ORPHA:2512
NCBI chr21:44,012,309...44,106,552
Ensembl chr21:44,012,309...44,106,552
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TRAPPC14
trafficking protein particle complex subunit 14
IAGP
HPO
ORPHA:2512
NCBI chr 7:100,154,423...100,158,723
Ensembl chr 7:100,154,420...100,158,723
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TRAPPC9
trafficking protein particle complex subunit 9
IAGP
HPO
ORPHA:352530
NCBI chr 8:139,727,725...140,458,579
Ensembl chr 8:139,727,725...140,458,579
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TRIO
trio Rho guanine nucleotide exchange factor
IAGP
HPO
OMIM:617061
NCBI chr 5:14,143,342...14,510,204
Ensembl chr 5:14,143,342...14,532,128
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TRIP12
thyroid hormone receptor interactor 12
IAGP
HPO
OMIM:617752
NCBI chr 2:229,763,837...229,923,186
Ensembl chr 2:229,763,837...229,923,239
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TRMT10A
tRNA methyltransferase 10A
IAGP
HPO
ORPHA:391408
NCBI chr 4:99,546,711...99,564,039
Ensembl chr 4:99,546,709...99,564,039
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TRPS1
transcriptional repressor GATA binding 1
IAGP
HPO
OMIM:190350 OMIM:190351 ORPHA:502
NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673
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TRRAP
transformation/transcription domain associated protein
IAGP
HPO
OMIM:618454
NCBI chr 7:98,878,532...99,013,241
Ensembl chr 7:98,877,933...99,050,831
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TTC5
tetratricopeptide repeat domain 5
IAGP
HPO
OMIM:619244
NCBI chr14:20,286,227...20,305,951
Ensembl chr14:20,256,558...20,305,960
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TUBGCP2
tubulin gamma complex component 2
IAGP
HPO
OMIM:618737
NCBI chr10:133,278,635...133,312,337
Ensembl chr10:133,278,635...133,318,823
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UBAP2L
ubiquitin associated protein 2 like
IAGP
HPO
OMIM:620494
NCBI chr 1:154,220,172...154,271,510
Ensembl chr 1:154,220,179...154,271,510
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UBE3B
ubiquitin protein ligase E3B
IAGP
HPO
OMIM:244450
NCBI chr12:109,477,634...109,547,829
Ensembl chr12:109,477,402...109,536,705
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UNC80
unc-80 homolog, NALCN channel complex subunit
IAGP
HPO
OMIM:616801 ORPHA:371364
NCBI chr 2:209,771,832...209,999,296
Ensembl chr 2:209,771,832...209,999,300
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USP9X
ubiquitin specific peptidase 9 X-linked
IAGP
HPO
ORPHA:480880
NCBI chr X:41,085,445...41,236,579
Ensembl chr X:41,085,445...41,236,579
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VPS35L
VPS35 endosomal protein sorting factor like
IAGP
HPO
OMIM:619135
NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793
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VPS51
VPS51 subunit of GARP complex
IAGP
HPO
OMIM:618606
NCBI chr11:65,096,214...65,111,862
Ensembl chr11:65,089,324...65,111,862
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WAC
WW domain containing adaptor with coiled-coil
IAGP
HPO
OMIM:616708 ORPHA:466950
NCBI chr10:28,532,779...28,623,112
Ensembl chr10:28,532,493...28,623,112
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WARS1
tryptophanyl-tRNA synthetase 1
IAGP
HPO
ORPHA:2512
NCBI chr14:100,333,790...100,376,327
Ensembl chr14:100,333,790...100,376,805
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WARS2
tryptophanyl tRNA synthetase 2, mitochondrial
IAGP
HPO
ORPHA:572798
NCBI chr 1:119,031,216...119,140,672
Ensembl chr 1:119,031,216...119,140,654
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WASHC4
WASH complex subunit 4
IAGP
HPO
OMIM:615817
NCBI chr12:105,107,731...105,169,130
Ensembl chr12:105,107,324...105,169,130
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WDR19
WD repeat domain 19
IAGP
HPO
OMIM:614376
NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
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WDR62
WD repeat domain 62
IAGP
HPO
ORPHA:2512
NCBI chr19:36,054,897...36,111,145
Ensembl chr19:36,054,649...36,105,108
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WNT5A
Wnt family member 5A
IAGP
HPO
OMIM:180700
NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539
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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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ZNF292
zinc finger protein 292
IAGP
HPO
OMIM:619188
NCBI chr 6:87,155,565...87,265,943
Ensembl chr 6:87,151,803...87,265,943
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ZNF407
zinc finger protein 407
IAGP
HPO
OMIM:619557
NCBI chr18:74,597,870...75,065,671
Ensembl chr18:74,597,870...75,065,671
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ZNF526
zinc finger protein 526
IAGP
HPO
OMIM:619877
NCBI chr19:42,220,312...42,228,201
Ensembl chr19:42,220,292...42,228,201
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