Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Craniosynostosis Syndrome, Autosomal Recessive | | IAGP | RGD:21069233 | 8554872 | ClinVar Annotator: match by term: Craniosynostosis syndrome | ClinVar | PMID:25741868, PMID:31837199 | Ellis-Van Creveld syndrome | | IAGP | RGD:127233705 | 8554872 | ClinVar Annotator: match by term: Ellis-van Creveld syndrome | ClinVar | PMID:17024374 more ... | genetic disease | | IAGP | RGD:401757361 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:401729063 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:401729066 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:155906943 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:156047887 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:156182586 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:155977553 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:156063250 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:155920374 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:329396979 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:329369029 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:329375323 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:401767912 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | orofacial cleft 5 | | IAGP | RGD:8600002 | 8554872 | ClinVar Annotator: match by term: Orofacial cleft 5 | ClinVar | PMID:12807959 | orofacial cleft 5 | | IAGP | RGD:15111854 | 8554872 | ClinVar Annotator: match by term: Orofacial cleft 5 | ClinVar | PMID:25741868, PMID:28492532 | orofacial cleft 5 | | IAGP | RGD:12907396 | 8554872 | ClinVar Annotator: match by term: Orofacial cleft 5 | ClinVar | PMID:12807959 more ... | orofacial cleft 5 | | IAGP | RGD:150555053 | 8554872 | ClinVar Annotator: match by term: Orofacial cleft 5 | ClinVar | | orofacial cleft 5 | | IAGP | RGD:8600001 | 8554872 | ClinVar Annotator: match by term: Orofacial cleft 5 | ClinVar | PMID:12807959, PMID:28492532 | orofacial cleft 5 | | IAGP | RGD:8600003 | 8554872 | ClinVar Annotator: match by term: Orofacial cleft 5 | ClinVar | PMID:15354328 more ... | Selective Tooth Agenesis 1 | | IAGP | RGD:8599999 | 8554872 | ClinVar Annotator: match by term: Selective tooth agenesis 1 | ClinVar | PMID:15264286 | Selective Tooth Agenesis 1 | | IAGP | RGD:26905299 | 8554872 | ClinVar Annotator: match by term: Tooth agenesis more ... | ClinVar | PMID:25741868, PMID:28492532 | Selective Tooth Agenesis 1 | | IAGP | RGD:8599997 | 8554872 | ClinVar Annotator: match by term: Selective tooth agenesis 1 | ClinVar | PMID:8696335, PMID:9742121 | Selective Tooth Agenesis 1 | | IAGP | RGD:8564507 | 8554872 | ClinVar Annotator: match by term: Selective tooth agenesis 1 | ClinVar | PMID:16498076 | Selective Tooth Agenesis 1 | | IAGP | RGD:8599998 | 8554872 | ClinVar Annotator: match by term: Selective tooth agenesis 1 | ClinVar | PMID:10742093 | Selective Tooth Agenesis 1 | | IAGP | RGD:9831478 | 8554872 | ClinVar Annotator: match by term: Selective tooth agenesis 1 | ClinVar | PMID:24914010, PMID:8696335 | Selective Tooth Agenesis 1 | | IAGP | RGD:8600004 | 8554872 | ClinVar Annotator: match by term: Selective tooth agenesis 1 | ClinVar | PMID:12097313 | tooth agenesis | | IAGP | RGD:126909851 | 8554872 | ClinVar Annotator: match by term: Oligodontia | ClinVar | PMID:24914010 | tooth and nail syndrome | | IAGP | RGD:15113983 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:155983865 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:38483167 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:28166811, PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:155935733 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:156038452 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:156390211 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:156306319 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:156246627 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:26897049 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:23991204, PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:13465822 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:156205296 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:28492532, PMID:30192788 | tooth and nail syndrome | | IAGP | RGD:151792611 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:25874811, PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:156449948 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:156438137 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:10742093 more ... | tooth and nail syndrome | | IAGP | RGD:156438136 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:10742093 more ... | tooth and nail syndrome | | IAGP | RGD:13468561 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:23991204, PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:15111854 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:25741868, PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:151823774 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:10742093 more ... | tooth and nail syndrome | | IAGP | RGD:151797381 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:151817986 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:126749122 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:126750591 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:126770549 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:40814959 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:25741868 | tooth and nail syndrome | | IAGP | RGD:26905299 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:25741868, PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:152065986 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:38461332 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:25741868 | tooth and nail syndrome | | IAGP | RGD:14705682 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:13807391 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:13494340 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:13485011 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:13481772 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:13496347 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:13479074 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:8600000 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:11369996, PMID:9484139 | tooth and nail syndrome | | IAGP | RGD:127311015 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:13496404 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:8600001 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:12807959, PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:127328792 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:15146471 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:8600003 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:15354328 more ... | tooth and nail syndrome | | IAGP | RGD:127298160 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:15146748 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:12907396 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:12807959 more ... | tooth and nail syndrome | | IAGP | RGD:127319956 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:15183122 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:13621020 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:13807057 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:127325041 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:151834308 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:27917906, PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:21071288 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:151769800 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:28492532 | tooth and nail syndrome | | IAGP | RGD:127297254 | 8554872 | ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - MGI
Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
Gene Ontology Annotations Click to see Annotation Detail View
Biological Process
Cellular Component
Molecular Function
Phenotype Annotations Click to see Annotation Detail View
Imported Human Phenotype Annotations - HPO
Imported Human Phenotype Annotations - ClinVar
Disease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology Annotations
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Biological Process
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Cellular Component
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Molecular Function
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Phenotype Annotations
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Human Phenotype
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Altered expression of muscle- and cytoskeleton-related genes in a rat strain with inherited cryptorchidism. | Barthold JS, etal., J Androl. 2008 May-Jun;29(3):352-66. Epub 2008 Jan 24. |
| 2. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
| 3. | Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate. | Jezewski PA, etal., J Med Genet. 2003 Jun;40(6):399-407. |
| 4. | Regulation of MT melatonin receptor expression in the foetal rat pituitary. | Johnston JD, etal., J Neuroendocrinol. 2006 Jan;18(1):50-6. |
| 5. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 6. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 7. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 8. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
| 9. | A human MSX1 homeodomain missense mutation causes selective tooth agenesis. | Vastardis H, etal., Nat Genet. 1996 Aug;13(4):417-21. |
Additional References at PubMed
| PMID:1284527 | PMID:1685479 | PMID:1969845 | PMID:1973146 | PMID:2565810 | PMID:8700832 | PMID:9111364 | PMID:9369446 | PMID:9697309 | PMID:10215616 | PMID:10529415 | PMID:10742093 |
| PMID:10862767 | PMID:11115394 | PMID:11332647 | PMID:11369996 | PMID:11384957 | PMID:11390985 | PMID:11754469 | PMID:12097313 | PMID:12477932 | PMID:12490878 | PMID:12651933 | PMID:12652527 |
| PMID:12733956 | PMID:12974677 | PMID:15029481 | PMID:15264286 | PMID:15381719 | PMID:15489334 | PMID:15705871 | PMID:16002402 | PMID:16327884 | PMID:16344560 | PMID:16600910 | PMID:16651263 |
| PMID:16678795 | PMID:16868654 | PMID:16932841 | PMID:17326252 | PMID:17557248 | PMID:17559452 | PMID:17693062 | PMID:18070437 | PMID:18177186 | PMID:18374898 | PMID:18379900 | PMID:18698632 |
| PMID:18705505 | PMID:18788550 | PMID:18932005 | PMID:19274049 | PMID:19346736 | PMID:19389651 | PMID:19453261 | PMID:19475667 | PMID:19776500 | PMID:19816326 | PMID:19922584 | PMID:20004191 |
| PMID:20060342 | PMID:20087401 | PMID:20211142 | PMID:20450679 | PMID:20506112 | PMID:20538960 | PMID:20544801 | PMID:20572854 | PMID:20602873 | PMID:20620318 | PMID:20634891 | PMID:20635363 |
| PMID:20638926 | PMID:20660504 | PMID:20672350 | PMID:20942943 | PMID:21111400 | PMID:21177256 | PMID:21366807 | PMID:21387540 | PMID:21448236 | PMID:21626677 | PMID:21689018 | PMID:21717107 |
| PMID:21740177 | PMID:21866112 | PMID:21873635 | PMID:21972896 | PMID:21988832 | PMID:22297032 | PMID:22455953 | PMID:22591773 | PMID:22813217 | PMID:23130753 | PMID:23382810 | PMID:23580168 |
| PMID:23708191 | PMID:23718693 | PMID:23731659 | PMID:23903689 | PMID:23921572 | PMID:24103583 | PMID:24222224 | PMID:24316698 | PMID:24329876 | PMID:24554542 | PMID:24603642 | PMID:24748298 |
| PMID:24914010 | PMID:25101640 | PMID:25484111 | PMID:25501212 | PMID:25738424 | PMID:25953455 | PMID:26030286 | PMID:26271668 | PMID:26463473 | PMID:26505791 | PMID:26556783 | PMID:26763252 |
| PMID:26786210 | PMID:27194789 | PMID:27228008 | PMID:27312535 | PMID:27356075 | PMID:27365112 | PMID:27381090 | PMID:27485761 | PMID:27729116 | PMID:27917906 | PMID:27966796 | PMID:27996298 |
| PMID:28040065 | PMID:28473536 | PMID:28927893 | PMID:28933666 | PMID:29134539 | PMID:29341488 | PMID:29436596 | PMID:29664137 | PMID:29738289 | PMID:30134957 | PMID:30192788 | PMID:30733598 |
| PMID:31056064 | PMID:31568994 | PMID:31781599 | PMID:31914153 | PMID:32210188 | PMID:32296183 | PMID:32381388 | PMID:32630554 | PMID:32784646 | PMID:33200192 | PMID:33419968 | PMID:33923458 |
| PMID:34292692 | PMID:35055037 | PMID:35065635 | PMID:35169223 | PMID:35173309 | PMID:35273362 | PMID:35647187 | PMID:37101223 |
Genomics
Comparative Map Data
| MSX1 (Homo sapiens - human) |
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| Msx1 (Mus musculus - house mouse) |
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| Msx1 (Rattus norvegicus - Norway rat) |
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| Msx1 (Chinchilla lanigera - long-tailed chinchilla) |
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| MSX1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| MSX1 (Canis lupus familiaris - dog) |
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| Msx1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| MSX1 (Sus scrofa - pig) |
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| MSX1 (Chlorocebus sabaeus - green monkey) |
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| Msx1 (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in MSX1
82 total Variants 
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