Human | GDF6 | 392255 | growth differentiation factor 6 | The spectrum of disorders generated by morpholino inhibition and the more severe defects (microphthalmia and anophthalmia) observed at higher doses illustrate the key role of GDF6 in ocular development |
Human | VSX2 | 338917 | visual system homeobox 2 | CHX10 defects in microphthalmia/anophthalmia patiients of midle-eastern origin are because od shared ancestry and consanguinity |
Human | HYLS1 | 219844 | hydrolethalus syndrome 1 | |
Human | ESCO2 | 157570 | establishment of sister chromatid cohesion N-acetyltransferase 2 | |
Human | DMBX1 | 127343 | diencephalon/mesencephalon homeobox 1 | no indications were found for an association between the MBX gene and microphthalmia with congenital cataract in humans |
Human | MFRP | 83552 | membrane frizzled-related protein | Microphthalmia, posterior Extreme hyperopia (Nanophthalmos) is the result of null mutations in MFRP |
Human | FKRP | 79147 | fukutin related protein | |
Human | PORCN | 64840 | porcupine homolog (Drosophila) | |
Human | STRA6 | 64220 | stimulated by retinoic acid 6 | Microphthalmia, bilateral |
Human | SALL4 | 57167 | sal-like 4 (Drosophila) | |
Human | MKS1 | 54903 | Meckel syndrome, type 1 | |
Human | BCOR | 54880 | BCL6 corepressor | |
Human | RAX | 30062 | retina and anterior neural fold homeobox | Title:Human microphthalmia associated with mutations in the retinal homeobox gene CHX10.|Association:Y|Conclusion:Not Found |
Human | POMT2 | 29954 | protein-O-mannosyltransferase 2 | |
Human | RAB3GAP1 | 22930 | RAB3 GTPase activating protein subunit 1 (catalytic) | |
Human | EBP | 10682 | emopamil binding protein (sterol isomerase) | |
Human | POMT1 | 10585 | protein-O-mannosyltransferase 1 | |
Human | RECQL4 | 9401 | RecQ protein-like 4 | |
Human | LARGE | 9215 | like-glycosyltransferase | |
Human | SNX3 | 8724 | sorting nexin 3 | Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype |
Human | IKBKG | 8517 | inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma | |
Human | WNT3 | 7473 | wingless-type MMTV integration site family, member 3 | |
Human | TFAP2A | 7020 | transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) | |
Human | SOX2 | 6657 | SRY (sex determining region Y)-box 2 | describe two sisters with bilateral anophthalmia/microphthalmia, brain anomalies and a novel heterozygous SOX2 gene single-base pair nucleotide deletion, c.551delC, which predicts p.Pro184ArgfsX19 only SOX2 has been identified as a major causative gene of anophthalima and microphthalmia |
Human | SHH | 6469 | sonic hedgehog | Microphthalmia, bilateral |