Phenotype: Ectopia pupillae (HP:0009918)
Associated genes and diseases:
gene_symbol: ADAMTSL4
disease_id: OMIM:225200
disease_name: ECTOPIA LENTIS ET PUPILLAE
gene_symbol: ADAMTSL4
disease_id: ORPHA:1885
disease_name: Isolated ectopia lentis
Ectopia lentis syndrome
Familial ectopia lentis
gene_symbol: TBX2
disease_id: OMIM:618223
disease_name: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
gene_symbol: FBN1
disease_id: ORPHA:1885
disease_name: Isolated ectopia lentis
Ectopia lentis syndrome
Familial ectopia lentis
gene_symbol: ZEB1
disease_id: OMIM:609141
disease_name: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3
gene_symbol: ZEB1
disease_id: ORPHA:98973
disease_name: Posterior polymorphous corneal dystrophy
PPCD
Posterior polymorphous dystrophy
Schlichting dystrophy
gene_symbol: RHOA
disease_id: OMIM:618727
disease_name: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES
gene_symbol: CPAMD8
disease_id: OMIM:617319
disease_name: ANTERIOR SEGMENT DYSGENESIS 8
gene_symbol: MAB21L2
disease_id: OMIM:615877
disease_name: MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME
gene_symbol: COL4A1
disease_id: OMIM:175780
disease_name: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES
gene_symbol: PITX2
disease_id: OMIM:180500
disease_name: AXENFELD-RIEGER SYNDROME, TYPE 1
gene_symbol: ZEB2
disease_id: OMIM:235730
disease_name: MOWAT-WILSON SYNDROME
gene_symbol: ZEB2
disease_id: ORPHA:261552
disease_name: Mowat-Wilson syndrome due to a ZEB2 point mutation
Hirschsprung disease and intellectual disability due to a ZEB2 point mutation
gene_symbol: FOXC1
disease_id: OMIM:601631
disease_name: ANTERIOR SEGMENT DYSGENESIS 3
gene_symbol: FOXC1
disease_id: OMIM:602482
disease_name: AXENFELD-RIEGER SYNDROME, TYPE 3
gene_symbol: PCYT1A
disease_id: ORPHA:85167
disease_name: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
SMD-CRD
gene_symbol: PCYT1A
disease_id: OMIM:608940
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY
gene_symbol: GRHL2
disease_id: OMIM:618031
disease_name: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4
gene_symbol: GRHL2
disease_id: ORPHA:98973
disease_name: Posterior polymorphous corneal dystrophy
PPCD
Posterior polymorphous dystrophy
Schlichting dystrophy
gene_symbol: OVOL2
disease_id: OMIM:122000
disease_name: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1
gene_symbol: OVOL2
disease_id: ORPHA:98973
disease_name: Posterior polymorphous corneal dystrophy
PPCD
Posterior polymorphous dystrophy
Schlichting dystrophy
gene_symbol: NSD2
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: CPLX1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: CTBP1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: FGFRL1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: LETM1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: PAX6
disease_id: OMIM:106210
disease_name: ANIRIDIA 1
gene_symbol: WT1
disease_id: OMIM:106210
disease_name: ANIRIDIA 1
gene_symbol: VSX1
disease_id: ORPHA:98973
disease_name: Posterior polymorphous corneal dystrophy
PPCD
Posterior polymorphous dystrophy
Schlichting dystrophy
gene_symbol: COL8A2
disease_id: ORPHA:98973
disease_name: Posterior polymorphous corneal dystrophy
PPCD
Posterior polymorphous dystrophy
Schlichting dystrophy