Phenotype: Aniridia (HP:0000526)
Associated genes and diseases:
gene_symbol: SALL4
disease_id: ORPHA:233
disease_name: Duane retraction syndrome
DRS
DURS
Duane syndrome
Stilling-Turk-Duane syndrome
gene_symbol: MAFB
disease_id: ORPHA:233
disease_name: Duane retraction syndrome
DRS
DURS
Duane syndrome
Stilling-Turk-Duane syndrome
gene_symbol: CHN1
disease_id: ORPHA:233
disease_name: Duane retraction syndrome
DRS
DURS
Duane syndrome
Stilling-Turk-Duane syndrome
gene_symbol: PORCN
disease_id: OMIM:305600
disease_name: FOCAL DERMAL HYPOPLASIA
gene_symbol: LDHD
disease_id: OMIM:245450
disease_name: D-LACTIC ACIDURIA WITH GOUT
gene_symbol: PAX6
disease_id: ORPHA:250923
disease_name: Isolated aniridia
gene_symbol: PAX6
disease_id: ORPHA:2334
disease_name: Autosomal dominant keratitis
Hereditary keratitis
gene_symbol: PAX6
disease_id: ORPHA:1065
disease_name: Aniridia-cerebellar ataxia-intellectual disability syndrome
Gillespie syndrome
gene_symbol: PAX6
disease_id: OMIM:194072
disease_name: WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME
gene_symbol: PAX6
disease_id: OMIM:106210
disease_name: ANIRIDIA 1
gene_symbol: FOXC1
disease_id: ORPHA:250923
disease_name: Isolated aniridia
gene_symbol: TRIM44
disease_id: ORPHA:250923
disease_name: Isolated aniridia
gene_symbol: TRIM44
disease_id: OMIM:617142
disease_name: ANIRIDIA 3
gene_symbol: FOXE3
disease_id: ORPHA:83461
disease_name: Congenital primary aphakia
gene_symbol: FOXE3
disease_id: OMIM:610256
disease_name: ANTERIOR SEGMENT DYSGENESIS 2
gene_symbol: VHL
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: DLST
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: MDH2
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: RET
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: SDHA
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: KIF1B
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: FH
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: SLC25A11
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: SDHAF2
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: TMEM127
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: NF1
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: SDHC
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: SDHD
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: SDHB
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: MAX
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: ITPR1
disease_id: ORPHA:1065
disease_name: Aniridia-cerebellar ataxia-intellectual disability syndrome
Gillespie syndrome
gene_symbol: ITPR1
disease_id: OMIM:117360
disease_name: SPINOCEREBELLAR ATAXIA 29
gene_symbol: ITPR1
disease_id: OMIM:206700
disease_name: GILLESPIE SYNDROME
gene_symbol: PITX2
disease_id: OMIM:180500
disease_name: AXENFELD-RIEGER SYNDROME, TYPE 1
gene_symbol: ELP4
disease_id: OMIM:617141
disease_name: ANIRIDIA 2
gene_symbol: DLX6
disease_id: ORPHA:2440
disease_name: Isolated split hand-split foot malformation
Ectrodactyly
SHFM
Split hand foot malformation
gene_symbol: SEM1
disease_id: ORPHA:2440
disease_name: Isolated split hand-split foot malformation
Ectrodactyly
SHFM
Split hand foot malformation
gene_symbol: BTRC
disease_id: ORPHA:2440
disease_name: Isolated split hand-split foot malformation
Ectrodactyly
SHFM
Split hand foot malformation
gene_symbol: TP63
disease_id: ORPHA:2440
disease_name: Isolated split hand-split foot malformation
Ectrodactyly
SHFM
Split hand foot malformation
gene_symbol: EPS15L1
disease_id: ORPHA:2440
disease_name: Isolated split hand-split foot malformation
Ectrodactyly
SHFM
Split hand foot malformation
gene_symbol: FBXW4
disease_id: ORPHA:2440
disease_name: Isolated split hand-split foot malformation
Ectrodactyly
SHFM
Split hand foot malformation
gene_symbol: WNT10B
disease_id: ORPHA:2440
disease_name: Isolated split hand-split foot malformation
Ectrodactyly
SHFM
Split hand foot malformation
gene_symbol: DLX5
disease_id: ORPHA:2440
disease_name: Isolated split hand-split foot malformation
Ectrodactyly
SHFM
Split hand foot malformation
gene_symbol: WT1
disease_id: OMIM:194072
disease_name: WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME
gene_symbol: WT1
disease_id: OMIM:106210
disease_name: ANIRIDIA 1
gene_symbol: WT1
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: REST
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: DIS3L2
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: BRCA2
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: CTR9
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: TRIP13
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: TRIM28
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: POU6F2
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: GPC3
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: H19
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: FAM111A
disease_id: OMIM:602361
disease_name: GRACILE BONE DYSPLASIA