Length (hg19) : 11,900,000 bases - Length (hg38) : 11,911,321 bases
CNV-Hub AChro-Puce
Likely pathogenic
AChro-Puce Criteria taken into account 1
4 Major
4 Minor
4 Minor
ISV 2
XCNV 3
ClassifyCNV ACMG 4
AnnotSV ACMG 5
ACMG criteria
ClassifyCNV
2A
+
1
2H
+
0.15
3C
+
0.9
AnnotSV
2A
+
1
3C
+
0.9
Diseases :
| Gene | Disease | Source | Inheritance |
|---|---|---|---|
| SH2B1 | Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency | Orphanet | Autosomal dominant |
| KIF22 | Spondyloepimetaphyseal dysplasia with multiple dislocations | Orphanet | Autosomal dominant |
| TBX6 | Autosomal dominant spondylocostal dysostosis | Orphanet | Autosomal dominant |
| SRCAP | Floating-Harbor syndrome | Orphanet | Autosomal dominant |
| STX1B | Generalized epilepsy with febrile seizures-plus | Orphanet | Autosomal dominant |
| ATP2A1 | Brody myopathy | Orphanet | Autosomal dominant, Autosomal recessive |
| SLC5A2 | Familial renal glucosuria | Orphanet | Autosomal dominant, Autosomal recessive |
| CD19 | Common variable immunodeficiency | Orphanet | Autosomal dominant, Autosomal recessive, Not applicable |
| KAT8 | Non-specific syndromic intellectual disability | Orphanet | Autosomal dominant, Autosomal recessive, X-linked recessive |
| PRRT2 | Paroxysmal exertion-induced dyskinesia | Orphanet | Autosomal dominant, Not applicable |
| ARMC5 | Cushing syndrome due to macronodular adrenal hyperplasia | Orphanet | Autosomal dominant, Not applicable |
| IL21R | Combined immunodeficiency due to IL21R deficiency | Orphanet | Autosomal recessive |
| KATNIP | Joubert syndrome | Orphanet | Autosomal recessive |
| CLN3 | CLN3 disease | Orphanet | Autosomal recessive |
| TUFM | Combined oxidative phosphorylation defect type 4 | Orphanet | Autosomal recessive |
| ALDOA | Glycogen storage disease due to aldolase A deficiency | Orphanet | Autosomal recessive |
| CORO1A | Severe combined immunodeficiency due to CORO1A deficiency | Orphanet | Autosomal recessive |
| HSD3B7 | Congenital bile acid synthesis defect type 1 | Orphanet | Autosomal recessive |
| VKORC1 | Hereditary combined deficiency of vitamin K-dependent clotting factors | Orphanet | Autosomal recessive |
| BCKDK | Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency | Orphanet | Autosomal recessive |
| COX6A2 | Isolated cytochrome C oxidase deficiency | Orphanet | Autosomal recessive, Mitochondrial inheritance |
| PHKG2 | Glycogen storage disease due to liver phosphorylase kinase deficiency | Orphanet | Autosomal recessive, X-linked recessive |
| FUS | Myxoid/round cell liposarcoma | Orphanet | Not applicable |
| ITGAM | Systemic lupus erythematosus | Orphanet | Not applicable |
| LAT | Severe combined immunodeficiency due to LAT deficiency | Orphanet | |
| MYL11 | mylpf arthrogryposis (monoallelic) | DDG2P | |
| SETD1A | intellectual disability | DDG2P |
ClinGen
0 benign CNV0 likely benign CNV
0 uncertain CNV
0 likely pathogenic CNV
0 pathogenic CNV
70% Overlaps
Decipher
0 benign CNV0 unknown CNV
0 uncertain CNV
0 pathogenic CNV
70% Overlaps
DGV-Gold
0
80% Overlaps
0
50% Overlaps
DGV
0
80% Overlaps
0
50% Overlaps
Coe & Al study 6
0
Patient cases
70% Overlaps
0
Controls
70% Overlaps
Genes with pHaplo > 0.55 7
15
TNRC6A ARHGAP17 KDM8 IL21R GTF3C1 XPO6 ATXN2L MAZ TAOK2 SRCAP ZNF629 FBXL19 SETD1A FUS
Genes with pTriplo > 0.68 7
36
TNRC6A ARHGAP17 GTF3C1 XPO6 ATXN2L TUFM SH2B1 SPNS1 SLX1B MAZ SEZ6L2 TAOK2 PPP4C MAPK3 CORO1A TBC1D10B SEPHS2 ZNF768 ZNF689 PRR14 FBRS SRCAP PHKG2 RNF40 ZNF629 FBXL19 SETD1A STX1B ZNF668 ZNF646 VKORC1 KAT8 FUS ARMC5
Genes in OMIM
107
Sources and references
1 : AChroPuce Consortium Recommandations pour l’interpretation Clinique des CNV (Copy Number Variations) Septembre 2022.
2 : Automated prediction of the clinical impact of structural copy number variations : M. Gažiová, T. Sládeček, O. Pös, M. Števko, W. Krampl, Z. Pös, R. Hekel, M. Hlavačka, M. Kucharík, J. Radvánszky, J. Budiš & T. Szemes View article
3 : Zhang L, Shi J, Ouyang J, Zhang R, Tao Y, Yuan D, et al X CNV genome wide prediction of the pathogenicity of copy number variations Genome Med 2021 13 132.
4 : Gurbich, T.A., Ilinsky, V.V. ClassifyCNV: a tool for clinical annotation of copy-number variants. Sci Rep 10, 20375 (2020). View article
5 : Geoffroy V, Herenger Y, Kress A, et al. AnnotSV: an integrated tool for structural variations annotation. Bioinforma Oxf Engl. 2018;34(20):3572-3574. doi:10.1093/bioinformatics/bty304
6 : Coe BP, Witherspoon K, Rosenfeld JA, van Bon BWM, Vulto van Silfhout AT, Bosco P, et al Refining analyses of copy number variation identifies specific genes associated with developmental delay Nat Genet 2014 46 1063 71
7 : Collins RL, Glessner JT, Porcu E, Lepamets M, Brandon R, Lauricella C, et al A cross disorder dosage sensitivity map of the human genome Cell 2022 185 3041 3055 e 25
0 Microdeletion and microduplication syndromes from litterature (>= 70% only)
107 OMIM Gene overlap(s)
Download genes as .csv
Location : 25,703,280 - 26,149,006
Database :
DecipherGenomics OMIM:604059 GTEx Portal Human Protein Atlas Ensembl
Location : 27,798,849 - 28,075,035
Database :
DecipherGenomics OMIM:617161 GTEx Portal Human Protein Atlas Ensembl
Location : 27,561,454 - 27,791,665
Disease : Joubert syndrome
Source : Orphanet
Database :
DecipherGenomics OMIM:616650 Orphanet:475 HGNC:29068 PMID:26714646 GTEx Portal Human Protein Atlas Ensembl
Location : 24,621,530 - 24,838,953
Database :
DecipherGenomics OMIM:610739 GTEx Portal Human Protein Atlas Ensembl
Location : 28,109,297 - 28,223,286
Database :
DecipherGenomics OMIM:608411 GTEx Portal Human Protein Atlas Ensembl
Location : 24,930,710 - 25,026,987
Database :
DecipherGenomics OMIM:608293 GTEx Portal Human Protein Atlas Ensembl
Location : 27,470,876 - 27,561,234
Database :
DecipherGenomics OMIM:603246 GTEx Portal Human Protein Atlas Ensembl
Location : 31,271,288 - 31,344,213
Disease : Systemic lupus erythematosus
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:120980 Orphanet:536 HGNC:6149 PMID:19286673 PMID:23917156 PMID:23943494 GTEx Portal Human Protein Atlas Ensembl
Location : 25,123,052 - 25,189,552
Database :
DecipherGenomics OMIM:610286 GTEx Portal Human Protein Atlas Ensembl
Location : 24,857,162 - 24,922,949
Database :
DecipherGenomics OMIM:610238 GTEx Portal Human Protein Atlas Ensembl
Location : 28,270,567 - 28,335,170
Database :
DecipherGenomics OMIM:620212 GTEx Portal Human Protein Atlas Ensembl
Location : 30,844,947 - 30,905,623
Database :
DecipherGenomics OMIM:605847 GTEx Portal Human Protein Atlas Ensembl
Location : 27,324,989 - 27,376,099
Database :
DecipherGenomics PanelApp OMIM:147781 GTEx Portal Human Protein Atlas Ensembl
Location : 30,483,979 - 30,534,888
Database :
DecipherGenomics PanelApp OMIM:153370 GTEx Portal Human Protein Atlas Ensembl
Location : 27,413,495 - 27,463,363
Disease : Combined immunodeficiency due to IL21R deficiency
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:605383 Orphanet:357329 HGNC:6006 PMID:23440042 GTEx Portal Human Protein Atlas Ensembl
Location : 28,699,879 - 28,747,048
Database :
DecipherGenomics OMIM:603916 GTEx Portal Human Protein Atlas Ensembl
Location : 27,236,315 - 27,280,093
Database :
DecipherGenomics OMIM:617263 GTEx Portal Human Protein Atlas Ensembl
Location : 31,885,128 - 31,928,678
Database :
DecipherGenomics OMIM:604752 GTEx Portal Human Protein Atlas Ensembl
Location : 30,709,530 - 30,752,730
Disease : Floating-Harbor syndrome
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:611421 Orphanet:2044 HGNC:16974 PMID:22965468 GTEx Portal Human Protein Atlas Ensembl
SFARI (Autism Database) :
Location : 28,565,236 - 28,603,111
Database :
DecipherGenomics OMIM:613374 GTEx Portal Human Protein Atlas Ensembl
Location : 29,674,600 - 29,710,020
Database :
DecipherGenomics OMIM:606248 GTEx Portal Human Protein Atlas Ensembl
Location : 31,404,656 - 31,437,826
Database :
DecipherGenomics OMIM:602453 GTEx Portal Human Protein Atlas Ensembl
Location : 28,915,742 - 28,947,847
Database :
DecipherGenomics OMIM:611869 GTEx Portal Human Protein Atlas Ensembl
Location : 30,035,748 - 30,064,299
Database :
DecipherGenomics OMIM:615175 GTEx Portal Human Protein Atlas Ensembl
Location : 29,882,480 - 29,910,871
Database :
DecipherGenomics PanelApp OMIM:616667 GTEx Portal Human Protein Atlas Ensembl
SFARI (Autism Database) :
Location : 31,366,455 - 31,394,320
Database :
DecipherGenomics OMIM:151510 GTEx Portal Human Protein Atlas Ensembl
Location : 29,831,715 - 29,859,360
Database :
DecipherGenomics OMIM:605088 GTEx Portal Human Protein Atlas Ensembl
Location : 28,857,921 - 28,885,533
Disease : Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:608937 Orphanet:329249 HGNC:30417 PMID:23160192 GTEx Portal Human Protein Atlas Ensembl
Location : 30,969,075 - 30,995,985
Disease : intellectual disability
Source : DDG2P
Database :
DecipherGenomics PanelApp OMIM:611052 GTEx Portal Human Protein Atlas Ensembl
SFARI (Autism Database) :
Location : 28,889,726 - 28,915,787
Disease : Brody myopathy
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:108730 Orphanet:53347 HGNC:811 PMID:10914677 GTEx Portal Human Protein Atlas Ensembl
Location : 30,934,376 - 30,960,104
Database :
DecipherGenomics OMIM:609085 GTEx Portal Human Protein Atlas Ensembl
Location : 28,485,432 - 28,506,896
Disease : CLN3 disease
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:607042 Orphanet:228346 HGNC:2074 PMID:21990111 GTEx Portal Human Protein Atlas Ensembl
Location : 30,613,879 - 30,635,333
Database :
DecipherGenomics OMIM:618033 GTEx Portal Human Protein Atlas Ensembl
Location : 31,000,577 - 31,021,959
Disease : Generalized epilepsy with febrile seizures-plus
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:601485 Orphanet:36387 HGNC:18539 PMID:25362483 GTEx Portal Human Protein Atlas Ensembl
Location : 29,916,333 - 29,937,557
Database :
DecipherGenomics PanelApp OMIM:608947 GTEx Portal Human Protein Atlas Ensembl
SFARI (Autism Database) :
Location : 29,985,189 - 30,003,582
Database :
DecipherGenomics PanelApp OMIM:613199 GTEx Portal Human Protein Atlas Ensembl
SFARI (Autism Database) :
Location : 27,214,829 - 27,233,089
Database :
DecipherGenomics OMIM:611917 GTEx Portal Human Protein Atlas Ensembl
Location : 30,389,456 - 30,407,312
Database :
DecipherGenomics OMIM:612897 GTEx Portal Human Protein Atlas Ensembl
Location : 30,016,835 - 30,034,591
Database :
DecipherGenomics OMIM:604567 GTEx Portal Human Protein Atlas Ensembl
Location : 31,225,412 - 31,242,858
Database :
DecipherGenomics OMIM:613288 GTEx Portal Human Protein Atlas Ensembl
Location : 31,125,810 - 31,142,714
Disease : Non-specific syndromic intellectual disability
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:609912 Orphanet:528084 HGNC:17933 PMID:31794431 GTEx Portal Human Protein Atlas Ensembl
Location : 28,962,128 - 28,978,413
Database :
DecipherGenomics OMIM:614525 GTEx Portal Human Protein Atlas Ensembl
Location : 29,802,048 - 29,816,706
Disease : Spondyloepimetaphyseal dysplasia with multiple dislocations
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:603213 Orphanet:93360 HGNC:6391 PMID:22152677 GTEx Portal Human Protein Atlas Ensembl
Location : 30,773,066 - 30,787,628
Database :
DecipherGenomics OMIM:607700 GTEx Portal Human Protein Atlas Ensembl
Location : 28,834,320 - 28,848,558
Database :
DecipherGenomics PanelApp OMIM:607931 GTEx Portal Human Protein Atlas Ensembl
Location : 31,072,164 - 31,085,561
Database :
DecipherGenomics PanelApp OMIM:617103 GTEx Portal Human Protein Atlas Ensembl
Location : 30,368,423 - 30,381,815
Database :
DecipherGenomics OMIM:613620 GTEx Portal Human Protein Atlas Ensembl
Location : 25,227,052 - 25,240,253
Database :
DecipherGenomics OMIM:603750 GTEx Portal Human Protein Atlas Ensembl
Location : 30,759,614 - 30,772,497
Disease : Glycogen storage disease due to liver phosphorylase kinase deficiency
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:172471 Orphanet:264580 HGNC:8931 GTEx Portal Human Protein Atlas Ensembl
Location : 28,510,683 - 28,523,372
Database :
DecipherGenomics OMIM:608273 GTEx Portal Human Protein Atlas Ensembl
Location : 30,669,752 - 30,682,131
Database :
DecipherGenomics PanelApp OMIM:608601 GTEx Portal Human Protein Atlas Ensembl
Location : 31,191,459 - 31,202,926
Disease : Myxoid/round cell liposarcoma
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:137070 Orphanet:99967 HGNC:4010 GTEx Portal Human Protein Atlas Ensembl
Location : 31,150,247 - 31,161,404
Database :
DecipherGenomics OMIM:610560 GTEx Portal Human Protein Atlas Ensembl
Location : 28,985,542 - 28,995,869
Database :
DecipherGenomics OMIM:612583 GTEx Portal Human Protein Atlas Ensembl
Location : 31,044,210 - 31,054,296
Database :
DecipherGenomics PanelApp OMIM:186591 GTEx Portal Human Protein Atlas Ensembl
Location : 31,085,743 - 31,095,517
Database :
DecipherGenomics OMIM:619299 GTEx Portal Human Protein Atlas Ensembl
Location : 30,125,426 - 30,134,827
Database :
DecipherGenomics PanelApp OMIM:601795 GTEx Portal Human Protein Atlas Ensembl
SFARI (Autism Database) :
Location : 30,087,299 - 30,096,697
Database :
DecipherGenomics OMIM:602035 GTEx Portal Human Protein Atlas Ensembl
Location : 31,469,401 - 31,478,487
Disease : Cushing syndrome due to macronodular adrenal hyperplasia
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:615549 Orphanet:189427 HGNC:25781 PMID:24283224 GTEx Portal Human Protein Atlas Ensembl
Location : 28,616,517 - 28,625,600
Database :
DecipherGenomics OMIM:171150 GTEx Portal Human Protein Atlas Ensembl
Location : 30,789,777 - 30,798,526
Database :
DecipherGenomics OMIM:619587 GTEx Portal Human Protein Atlas Ensembl
Location : 30,116,131 - 30,124,858
Database :
DecipherGenomics OMIM:616318 GTEx Portal Human Protein Atlas Ensembl
Location : 29,674,300 - 29,682,197
Database :
DecipherGenomics OMIM:182160 GTEx Portal Human Protein Atlas Ensembl
Location : 31,494,323 - 31,502,181
Disease : Familial renal glucosuria
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:182381 Orphanet:69076 HGNC:11037 PMID:14614622 PMID:21165652 PMID:24255686 GTEx Portal Human Protein Atlas Ensembl
Location : 30,960,389 - 30,967,782
Database :
DecipherGenomics OMIM:610930 GTEx Portal Human Protein Atlas Ensembl
Location : 28,943,286 - 28,950,663
Disease : Common variable immunodeficiency
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:107265 Orphanet:1572 HGNC:1633 GTEx Portal Human Protein Atlas Ensembl
Location : 30,382,255 - 30,389,312
Disease : mylpf arthrogryposis (monoallelic)
Source : DDG2P
Database :
DecipherGenomics OMIM:617378 GTEx Portal Human Protein Atlas Ensembl
Location : 30,907,935 - 30,914,868
Database :
DecipherGenomics PanelApp OMIM:600435 GTEx Portal Human Protein Atlas Ensembl
Location : 31,117,428 - 31,124,112
Disease : Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:614901 Orphanet:308410 HGNC:16902 PMID:22956686 GTEx Portal Human Protein Atlas Ensembl
SFARI (Autism Database) :
Location : 30,434,936 - 30,441,351
Database :
DecipherGenomics OMIM:615840 GTEx Portal Human Protein Atlas Ensembl
Location : 31,482,906 - 31,489,281
Database :
DecipherGenomics OMIM:602353 GTEx Portal Human Protein Atlas Ensembl
Location : 29,827,473 - 29,833,810
Database :
DecipherGenomics OMIM:612033 GTEx Portal Human Protein Atlas Ensembl
Location : 28,544,029 - 28,550,329
Database :
DecipherGenomics OMIM:614812 GTEx Portal Human Protein Atlas Ensembl
Location : 30,075,485 - 30,081,778
Disease : Glycogen storage disease due to aldolase A deficiency
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:103850 Orphanet:57 HGNC:414 GTEx Portal Human Protein Atlas Ensembl
Location : 30,194,148 - 30,200,397
Disease : Severe combined immunodeficiency due to CORO1A deficiency
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:605000 Orphanet:228003 HGNC:2252 PMID:23522482 GTEx Portal Human Protein Atlas Ensembl
SFARI (Autism Database) :
Location : 31,094,758 - 31,100,949
Database :
DecipherGenomics OMIM:610561 GTEx Portal Human Protein Atlas Ensembl
Location : 30,097,114 - 30,103,245
Disease : Autosomal dominant spondylocostal dysostosis
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:602427 Orphanet:1797 HGNC:11605 PMID:23335591 GTEx Portal Human Protein Atlas Ensembl
Location : 28,996,147 - 29,002,105
Disease : Severe combined immunodeficiency due to LAT deficiency
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:602354 Orphanet:504523 HGNC:18874 PMID:27522155 GTEx Portal Human Protein Atlas Ensembl
Location : 30,662,038 - 30,667,734
Database :
DecipherGenomics OMIM:617423 GTEx Portal Human Protein Atlas Ensembl
Location : 31,102,163 - 31,107,301
Disease : Hereditary combined deficiency of vitamin K-dependent clotting factors
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:608547 Orphanet:98434 HGNC:23663 PMID:14765194 GTEx Portal Human Protein Atlas Ensembl
Location : 28,603,264 - 28,608,371
Database :
DecipherGenomics OMIM:601292 GTEx Portal Human Protein Atlas Ensembl
Location : 30,210,549 - 30,215,631
Database :
DecipherGenomics OMIM:600641 GTEx Portal Human Protein Atlas Ensembl
Location : 29,817,427 - 29,822,485
Database :
DecipherGenomics OMIM:600999 GTEx Portal Human Protein Atlas Ensembl
Location : 29,869,678 - 29,874,735
Database :
DecipherGenomics OMIM:605893 GTEx Portal Human Protein Atlas Ensembl
Location : 29,471,234 - 29,476,287
Database :
DecipherGenomics OMIM:615819 GTEx Portal Human Protein Atlas Ensembl
Location : 30,768,744 - 30,773,542
Database :
DecipherGenomics OMIM:618318 GTEx Portal Human Protein Atlas Ensembl
Location : 29,789,577 - 29,794,294
Database :
DecipherGenomics OMIM:617311 GTEx Portal Human Protein Atlas Ensembl
Location : 30,565,085 - 30,569,695
Database :
DecipherGenomics OMIM:619524 GTEx Portal Human Protein Atlas Ensembl
Location : 30,103,635 - 30,108,236
Database :
DecipherGenomics OMIM:609724 GTEx Portal Human Protein Atlas Ensembl
Location : 30,034,519 - 30,039,057
Database :
DecipherGenomics OMIM:618911 GTEx Portal Human Protein Atlas Ensembl
Location : 30,362,094 - 30,366,629
Database :
DecipherGenomics OMIM:604470 GTEx Portal Human Protein Atlas Ensembl
Location : 29,822,703 - 29,827,213
Disease : Paroxysmal exertion-induced dyskinesia
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:614386 Orphanet:98811 HGNC:30500 PMID:22902309 PMID:22209761 PMID:23398397 GTEx Portal Human Protein Atlas Ensembl
Location : 28,505,964 - 28,510,285
Database :
DecipherGenomics OMIM:605220 GTEx Portal Human Protein Atlas Ensembl
Location : 31,142,754 - 31,147,048
Database :
DecipherGenomics OMIM:600823 GTEx Portal Human Protein Atlas Ensembl
Location : 30,996,528 - 31,000,468
Disease : Congenital bile acid synthesis defect type 1
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:607764 Orphanet:79301 HGNC:18324 PMID:12679481 GTEx Portal Human Protein Atlas Ensembl
Location : 28,853,732 - 28,857,669
Disease : Combined oxidative phosphorylation defect type 4
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:602389 Orphanet:254925 HGNC:12420 PMID:17160893 GTEx Portal Human Protein Atlas Ensembl
Location : 30,003,651 - 30,007,395
Database :
DecipherGenomics OMIM:603365 GTEx Portal Human Protein Atlas Ensembl
Location : 29,465,854 - 29,469,540
Database :
DecipherGenomics OMIM:615823 GTEx Portal Human Protein Atlas Ensembl
Location : 30,205,196 - 30,208,882
Database :
DecipherGenomics OMIM:615822 GTEx Portal Human Protein Atlas Ensembl
Location : 30,535,325 - 30,538,142
Database :
DecipherGenomics OMIM:618032 GTEx Portal Human Protein Atlas Ensembl
Location : 32,684,849 - 32,687,486
Database :
DecipherGenomics OMIM:617482 GTEx Portal Human Protein Atlas Ensembl
Location : 30,454,952 - 30,457,195
Database :
DecipherGenomics OMIM:606218 GTEx Portal Human Protein Atlas Ensembl
Location : 31,212,807 - 31,214,771
Database :
DecipherGenomics PanelApp OMIM:606838 GTEx Portal Human Protein Atlas Ensembl
Location : 31,227,283 - 31,228,456
Database :
DecipherGenomics OMIM:615700 GTEx Portal Human Protein Atlas Ensembl
Location : 31,539,221 - 31,540,124
Database :
DecipherGenomics OMIM:605821 GTEx Portal Human Protein Atlas Ensembl
Location : 29,464,911 - 29,465,672
Database :
DecipherGenomics PanelApp OMIM:613182 GTEx Portal Human Protein Atlas Ensembl
Location : 31,439,052 - 31,439,681
Disease : Isolated cytochrome C oxidase deficiency
Source : Orphanet
Database :
DecipherGenomics PanelApp OMIM:602009 Orphanet:254905 HGNC:2279 PMID:31155743 GTEx Portal Human Protein Atlas Ensembl