PubMed (OMIM) for id: 4948

Year	Number of Results
1907	1
1952	1
1961	1
1963	1
1964	1
1965	1
1969	1
1970	2
1972	2
1975	1
1978	1
1982	1
1984	1
1986	1
1987	1
1988	2
1989	1
1990	1
1991	4
1992	5
1993	3
1994	5
1995	4
1996	2
1997	3
2000	2
2001	2
2002	2
2003	6
2004	2
2005	5
2006	5
2007	8
2008	5
2010	1
2011	3
2012	1
2017	1
2023	1
2024	0

1

MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma.

Jedlickova J, Vajter M, Barta T, Black GCM, Perveen R, Mares J, Fichtl M, Kousal B, Dudakova L, Liskova P. Jedlickova J, et al. Clin Genet. 2023 Oct;104(4):418-426. doi: 10.1111/cge.14391. Epub 2023 Jun 15. Clin Genet. 2023. PMID: 37321975

2

Loci associated with skin pigmentation identified in African populations.

Crawford NG, Kelly DE, Hansen MEB, Beltrame MH, Fan S, Bowman SL, Jewett E, Ranciaro A, Thompson S, Lo Y, Pfeifer SP, Jensen JD, Campbell MC, Beggs W, Hormozdiari F, Mpoloka SW, Mokone GG, Nyambo T, Meskel DW, Belay G, Haut J; NISC Comparative Sequencing Program; Rothschild H, Zon L, Zhou Y, Kovacs MA, Xu M, Zhang T, Bishop K, Sinclair J, Rivas C, Elliot E, Choi J, Li SA, Hicks B, Burgess S, Abnet C, Watkins-Chow DE, Oceana E, Song YS, Eskin E, Brown KM, Marks MS, Loftus SK, Pavan WJ, Yeager M, Chanock S, Tishkoff SA. Crawford NG, et al. Science. 2017 Nov 17;358(6365):eaan8433. doi: 10.1126/science.aan8433. Epub 2017 Oct 12. Science. 2017. PMID: 29025994 Free PMC article.

3

A global view of the OCA2-HERC2 region and pigmentation.

Donnelly MP, Paschou P, Grigorenko E, Gurwitz D, Barta C, Lu RB, Zhukova OV, Kim JJ, Siniscalco M, New M, Li H, Kajuna SL, Manolopoulos VG, Speed WC, Pakstis AJ, Kidd JR, Kidd KK. Donnelly MP, et al. Hum Genet. 2012 May;131(5):683-96. doi: 10.1007/s00439-011-1110-x. Epub 2011 Nov 8. Hum Genet. 2012. PMID: 22065085 Free PMC article.

4

Gene-gene interactions contribute to eye colour variation in humans.

Pośpiech E, Draus-Barini J, Kupiec T, Wojas-Pelc A, Branicki W. Pośpiech E, et al. J Hum Genet. 2011 Jun;56(6):447-55. doi: 10.1038/jhg.2011.38. Epub 2011 Apr 7. J Hum Genet. 2011. PMID: 21471978

5

High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients.

Rooryck C, Morice-Picard F, Lasseaux E, Cailley D, Dollfus H, Defoort-Dhellemme S, Duban-Bedu B, de Ravel TJ, Taieb A, Lacombe D, Arveiler B. Rooryck C, et al. Hum Genet. 2011 Feb;129(2):199-208. doi: 10.1007/s00439-010-0913-5. Epub 2010 Nov 18. Hum Genet. 2011. PMID: 21085994

6

Synergistic interaction of the OCA2 and OCA3 genes in a family.

Chiang PW, Fulton AB, Spector E, Hisama FM. Chiang PW, et al. Am J Med Genet A. 2008 Sep 15;146A(18):2427-30. doi: 10.1002/ajmg.a.32453. Am J Med Genet A. 2008. PMID: 18680187 No abstract available.

7

Evidence suggesting the inheritance mode of the human P gene in skin complexion is not strictly recessive.

Chiang PW, Spector E, Tsai AC. Chiang PW, et al. Am J Med Genet A. 2008 Jun 1;146A(11):1493-6. doi: 10.1002/ajmg.a.32321. Am J Med Genet A. 2008. PMID: 18449927 No abstract available.

8

A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.

Sturm RA, Duffy DL, Zhao ZZ, Leite FP, Stark MS, Hayward NK, Martin NG, Montgomery GW. Sturm RA, et al. Am J Hum Genet. 2008 Feb;82(2):424-31. doi: 10.1016/j.ajhg.2007.11.005. Epub 2008 Jan 24. Am J Hum Genet. 2008. PMID: 18252222 Free PMC article.

9

Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.

Kayser M, Liu F, Janssens AC, Rivadeneira F, Lao O, van Duijn K, Vermeulen M, Arp P, Jhamai MM, van Ijcken WF, den Dunnen JT, Heath S, Zelenika D, Despriet DD, Klaver CC, Vingerling JR, de Jong PT, Hofman A, Aulchenko YS, Uitterlinden AG, Oostra BA, van Duijn CM. Kayser M, et al. Am J Hum Genet. 2008 Feb;82(2):411-23. doi: 10.1016/j.ajhg.2007.10.003. Epub 2008 Jan 25. Am J Hum Genet. 2008. PMID: 18252221 Free PMC article.

10

Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression.

Eiberg H, Troelsen J, Nielsen M, Mikkelsen A, Mengel-From J, Kjaer KW, Hansen L. Eiberg H, et al. Hum Genet. 2008 Mar;123(2):177-87. doi: 10.1007/s00439-007-0460-x. Epub 2008 Jan 3. Hum Genet. 2008. PMID: 18172690

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