aphakia Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description absence of the crystalline lens of the eye (Mammalian Phenotype Ontology, MP_0003078)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003078
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Genes

19 gene mutations causing the aphakia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ADAM17 ADAM metallopeptidase domain 17
ALKBH1 alkB, alkylation repair homolog 1 (E. coli)
ATF4 activating transcription factor 4
BMP7 bone morphogenetic protein 7
FAT1 FAT atypical cadherin 1
GRIP1 glutamate receptor interacting protein 1
LHX2 LIM homeobox 2
MAB21L1 mab-21-like 1 (C. elegans)
MAB21L2 mab-21-like 2 (C. elegans)
NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase)
NCAPH non-SMC condensin I complex, subunit H
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
OTX2 orthodenticle homeobox 2
PAX6 paired box 6
PITX3 paired-like homeodomain 3
PPP1R13L protein phosphatase 1, regulatory subunit 13 like
PYGO2 pygopus family PHD finger 2
TCF7L1 transcription factor 7-like 1 (T-cell specific, HMG-box)
ZNRF3 zinc and ring finger 3