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 | FAM126A | 84668 | family with sequence similarity 126, member A | A large intragenic deletion of DRCTNNB1A does not lead to congenital cataract in all of the patients in an afflicted family |
Human | COL18A1 | 80781 | collagen, type XVIII, alpha 1 | |
Human | SIL1 | 64374 | SIL1 nucleotide exchange factor | |
Human | BCOR | 54880 | BCL6 corepressor | |
Human | KIF1B | 23095 | kinesin family member 1B | |
Human | RAB3GAP1 | 22930 | RAB3 GTPase activating protein subunit 1 (catalytic) | |
Human | CTDP1 | 9150 | CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 | Congenital cataracts facial dysmorphism neuropathy is caused by a single-nucleotide substitution in an antisense Alu element in intron 6 of CTDP1, resulting in a rare mechanism of aberrant splicing and an Alu insertion in the processed mRNA |
Human | BFSP2 | 8419 | beaded filament structural protein 2, phakinin | Progressive phenotype has provided more evidence for the heterogeneity of congenital cataract caused by BFSP2 mutations and for the important role BFSP2 plays in cataract formation |
Human | VHL | 7428 | von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase | |
Human | SDHD | 6392 | succinate dehydrogenase complex, subunit D, integral membrane protein | |
Human | SDHB | 6390 | succinate dehydrogenase complex, subunit B, iron sulfur (Ip) | |
Human | RET | 5979 | ret proto-oncogene | |
Human | PEX7 | 5191 | peroxisomal biogenesis factor 7 | |
Human | OCRL | 4952 | oculocerebrorenal syndrome of Lowe | Congenital cataract (males) |
Human | NHS | 4810 | Nance-Horan syndrome (congenital cataracts and dental anomalies) | Bilateral congenital cataracts (males) |
Human | MYH9 | 4627 | myosin, heavy chain 9, non-muscle | |
Human | MAF | 4094 | v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog | Findings expand the mutation spectrum of MAF in association with congenital cataract and highlight the genetic and phenotypic heterogeneity of congenital cataract |
Human | LIM2 | 3982 | lens intrinsic membrane protein 2, 19kDa | This study shows the involvement of LIM2 in human congenital cataract |
Human | HSF4 | 3299 | heat shock transcription factor 4 | Findings confirm that mutations in HSF4 may result in both autosomal dominant and autosomal recessive congenital cataract, and highlight the locus heterogeneity in autosomal recessive congenital cataract |
Human | GJA8 | 2703 | gap junction protein, alpha 8, 50kDa | A novel GJA8 gene mutation was found to be associated with hereditary cataract in a Chinese congenital cataract family Five novel mutations in CRYAA, CRYGD, and GJA8 genes were detected in congenital cataract in association with microcornea |
Human | GJA3 | 2700 | gap junction protein, alpha 3, 46kDa | The congenital "ant-egg" cataract phenotype is caused by a L11S mutation in connexin46 (Cx46) located in the signal peptide domain We conclude that connexin 46 mutations might account for as much as 3.3% of the hereditary congenital cataract in the Indian population |
Human | GDNF | 2668 | glial cell derived neurotrophic factor | |
Human | GCNT2 | 2651 | glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) | A nonsense mutation in the GCNT2 gene isoforms is associated with autosomal recessive congenital cataract in four distantly related Arab families from Israel Title:The molecular genetics of the human I locus and molecular background explain the partial association of the adult i phenotype with congenital cataracts.|Association:Y|Conclusion:Not Found |
Human | ETFDH | 2110 | electron-transferring-flavoprotein dehydrogenase | |