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(e.g. Fenofibrate, rs4950928, NEUROG3, glucose metabolic process, Ischemia, Leukocyte)
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QuickView for microphthalmos (phenotype)


Genetic Markers

Most Correlated Genes

Most Correlated SNPs

  1. EIF1AY
  2. KHDRBS3
  3. COL3A1
  4. SNX3
  5. SHH
  1. No SNPs found
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Pathway Enrichment

Most Correlated Biogroups

  1. BENPORATH_ES_WITH_H3K27ME3
  2. MIKKELSEN_MEF_HCP_WITH_H3K27ME3
  3. BENPORATH_SUZ12_TARGETS
  4. CAGGTG_E12_Q6
  5. BENPORATH_EED_TARGETS
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Curated Studies

Most Correlated Studies

  1. OMIM - Congenital disorder
  2. Induced pluripotent stem cells of Branchio Oculo Facial Syndrome patients
  3. Mouse Phenotypes - Congenital anomaly of eye
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Literature

Most Relevant Literature

  1. De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal developme…
  2. Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2.
  3. LRP5-linked osteoporosis-pseudoglioma syndrome mimicking isolated microphthalmia.
  4. Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplas…
  5. Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, a…
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Clinical Trials

Most Relevant Clinical Trials

  1. Long-term Postoperative Outcomes After Bilateral Congenital Cataract Surgery in Eyes With Microphtha…
  2. Fundus Changes in the Microphthalmy Eyes
  3. Clinical Trial : Complications of in the Bag IOL Versus Optic Capture of IOL in Pediatric Cataract S…
  4. Exophthalmometry With 3D Face Scanners
  5. Assessment of a New Goldmann Applanation Tonometer
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