Entry Search - 106210 194070 194072 607102 607108 - OMIM
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Search: '106210 194070 194072 607102 607108 (Search in: MIM number)'
Results: 5 entries.

1:
# 106210. ANIRIDIA 1; AN1
CATARACT, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY, INCLUDED
Cytogenetic locations: 11p13,
Matching terms: 106210
 Phenotype-Gene Relationships   Phenotypic Series   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
11p13 Aniridia 106210 AD 3 PAX6 607108
11p13 Cataract with late-onset corneal dystrophy 106210 AD 3 PAX6 607108
ICD+
SNOMEDCT: 253231007
ORPHA: 250923
DO: 0070532

3:
# 194072. WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; WAGR
Cytogenetic location: 11p13, Genomic coordinates (GRCh38): 11:31,000,001-36,400,000
Matching terms: 194072
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
11p13 Wilms tumor, aniridia, genitourinary anomalies and impaired intellectual development syndrome 194072 AD, SMu 4
ICD+
SNOMEDCT: 4135001, 715215007
ORPHA: 893
DO: 14515

4:
* 607102. WT1 TRANSCRIPTION FACTOR; WT1
WT1/EWS FUSION GENE, INCLUDED
Cytogenetic location: 11p13, Genomic coordinates (GRCh38): 11:32,387,775-32,435,539
Matching terms: 607102
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
11p13 Denys-Drash syndrome 194080 AD, SMu 3
Frasier syndrome 136680 AD, SMu 3
Meacham syndrome 608978 AD 3
Mesothelioma, somatic 156240 3
Nephrotic syndrome, type 4 256370 AD 3
Wilms tumor, type 1 194070 AD, SMu 3
ICD+
SNOMEDCT: 236385009, 25081006, 302849000, 445431000, 722461004

5:
* 607108. PAIRED BOX GENE 6; PAX6
Cytogenetic location: 11p13, Genomic coordinates (GRCh38): 11:31,789,026-31,817,961
Matching terms: 607108
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
11p13 ?Coloboma of optic nerve 120430 AD 3
?Morning glory disc anomaly 120430 AD 3
Aniridia 106210 AD 3
Anterior segment dysgenesis 5, multiple subtypes 604229 AD 3
Cataract with late-onset corneal dystrophy 106210 AD 3
Foveal hypoplasia 1 136520 AD 3
Keratitis 148190 AD 3
Microphthalmia/coloboma 12 120200 AD 3
Optic nerve hypoplasia 165550 AD 3
ICD+
SNOMEDCT: 69278003, 715339004
ICD10CM: H47.033, Q13.1
ICD9CM: 743.45
Search: 106210 194070 194072 607102 607108 (Search in: MIM number)
Results: 5 entries.

1:
# 106210. ANIRIDIA 1; AN1
CATARACT, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY, INCLUDED
Cytogenetic locations: 11p13,
Matching terms: 106210

2:
# 194070. WILMS TUMOR 1; WT1
Cytogenetic locations: 11p13, 13q13.1, Xq26.2
Matching terms: 194070

3:
# 194072. WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; WAGR
Cytogenetic location: 11p13, Genomic coordinates (GRCh38): 11:31,000,001-36,400,000
Matching terms: 194072

4:
* 607102. WT1 TRANSCRIPTION FACTOR; WT1
WT1/EWS FUSION GENE, INCLUDED
Cytogenetic location: 11p13, Genomic coordinates (GRCh38): 11:32,387,775-32,435,539
Matching terms: 607102

5:
* 607108. PAIRED BOX GENE 6; PAX6
Cytogenetic location: 11p13, Genomic coordinates (GRCh38): 11:31,789,026-31,817,961
Matching terms: 607108