Anterior segment dysgenesis

Disease Term Disease ID Gene Symbol Classification References Source
ANTERIOR CHAMBER ANOMALIES
C3152182
EYA1 Unknown — Disgenet
ANTERIOR SEGMENT DYSGENESIS
MONDO:0019503
FOXE3 Causal
10652278 11159941 16199865 16826526 17893665 19708017 20140963 20806047 21150893 25504734 27218149
ClinGen Disgenet
FOXD3 Unknown
22815627
Disgenet
ANTERIOR SEGMENT DYSGENESIS 1
107250C4551992MONDO:0007138
PITX3 Causal
15286169 24555714
ClinVar Disgenet GWAS catalog HPO
FOXE3 Unknown
11159941 11980846 19708017 20806047 21150893 25504734
Disgenet GWAS catalog
GBF1 Unknown — Disgenet
PITX2 Unknown — Disgenet
ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPE S
C4310917
GBF1 Unknown — Disgenet
PITX3 Unknown — Disgenet
ANTERIOR SEGMENT DYSGENESIS 2
610256
FOXE3 Unknown — HPO
ANTERIOR SEGMENT DYSGENESIS 3
601631MONDO:0024456
FOXC1 Causal
10713890 10767326 11170889 14506133 16449236 17210863 19458328 22171010 24556684 9620769 9792859
ClinGen ClinVar GWAS catalog HPO
ANTERIOR SEGMENT DYSGENESIS 4
137600MONDO:0007662
PITX2 Causal — ClinVar GenCC HPO
ANTERIOR SEGMENT DYSGENESIS 5
604229C4310809
PAX6 Unknown — Disgenet HPO
ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPE S
C4310884
PAX6 Unknown — Disgenet
ANTERIOR SEGMENT DYSGENESIS 6
617315C4310623MONDO:0015016
CYP1B1 Causal — ClinVar Disgenet HPO
ANTERIOR SEGMENT DYSGENESIS 7
269400C3151617MONDO:0010015
PXDN Causal
21907015 24895407 31817535 32015378 32499604 35595447
ClinGen ClinVar Disgenet HPO
ATOH7 Unknown
22068589
Disgenet GWAS catalog
RYR1 Unknown — Disgenet
ANTERIOR SEGMENT DYSGENESIS 8
617319MONDO:0015017
CPAMD8 Causal
15177561 27839872 28683140 32085876 32274568
ClinGen ClinVar Disgenet HPO
AUTOSOMAL RECESSIVE ANTERIOR SEGMENT DYSGENESIS
519388
CPAMD8 Unknown
27839872
Orphanet
IRIDO-CORNEO-TRABECULAR DYSGENESIS
C0344559
ARHGAP35 Causal — Disgenet
BMP4 Causal — Disgenet
COL4A1 Causal — Disgenet
CYP1B1 Causal — Disgenet
PAX6 Causal — Disgenet
ELP4 Unknown — Disgenet
FOXC1 Unknown — Disgenet
FOXE3 Unknown — Disgenet
KERA Unknown — Disgenet
PITX2 Unknown — Disgenet
PTCH1 Unknown — Disgenet
IRIS DISORDER
MONDO_0002289
MC2R Unknown
40465716
GWAS catalog
MC5R Unknown
40465716
GWAS catalog
TYR Unknown
39024449
GWAS catalog
IRIS HYPOPLASIA WITH GLAUCOMA
C1839928
FOXC1 Unknown — Disgenet
IFT140 Unknown — Disgenet