Microphthalmia

Disease Term Disease ID Gene Symbol Classification References Source
MICROPHTHALMIA
MONDO:0021129
VSX2 Causal — GenCC
GDF6 Unknown — GenCC
ZNF219 Unknown — GenCC
MICROPHTHALMIA AND MENTAL DEFICIENCY
C2931500
ABCB6 Unknown — Disgenet
C12ORF57 Unknown — Disgenet
GDF3 Unknown — Disgenet
PORCN Unknown — Disgenet
RBP4 Unknown — Disgenet
SHH Unknown — Disgenet
STRA6 Unknown — Disgenet
TENM3 Unknown — Disgenet
VSX2 Unknown — Disgenet
MICROPHTHALMIA WITH ANKYLOBLEPHARON AND INTELLECTUAL DISABILITY SYNDROME
C1844948
BCOR Unknown — Disgenet
NAA10 Unknown — Disgenet
MICROPHTHALMIA WITH BRAIN AND DIGIT ANOMALIES
139471MONDO:0011936
BMP4 Causal
18252212 19249007 21340693
ClinVar GWAS catalog Orphanet
MICROPHTHALMIA WITH LIMB ANOMALIES
1106206920MONDO:0008800
SMOC1 Causal
19208380 21194678
ClinVar GenCC HPO Orphanet
MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME
2556
COX7B Unknown
23122588
Orphanet
HCCS Unknown
17033964
Orphanet
NDUFB11 Unknown
25772934
Orphanet
MICROPHTHALMIA, CATARACTS, AND IRIS ABNORMALITIES
C1864722
VSX2 Causal — Disgenet
MICROPHTHALMIA, ISOLATED 2
610093C1864720MESH:C566446
VSX2 Unknown — CTD Disgenet HPO
MICROPHTHALMIA, ISOLATED 3
MESH:C567025
RAX Unknown — CTD
MICROPHTHALMIA, ISOLATED 4
613094C2751307MESH:C567757
GDF6 Unknown — CTD Disgenet HPO
MICROPHTHALMIA, ISOLATED 5
611040OMIM:611040
MFRP Unknown — CTD HPO
MICROPHTHALMIA, ISOLATED 6
C3150757613517OMIM:613517
C1QTNF5 Unknown — Disgenet
HMX1 Unknown — Disgenet
MFRP Unknown — Disgenet
PRSS56 Unknown — CTD Disgenet HPO
VSX2 Unknown — Disgenet
MICROPHTHALMIA, ISOLATED 7
613704C3150969OMIM:613704
GDF3 Unknown — CTD Disgenet HPO
MICROPHTHALMIA, ISOLATED 8
615113C3554524OMIM:615113
ALDH1A3 Unknown — CTD Disgenet HPO
MICROPHTHALMIA, ISOLATED, WITH CATARACT 2
MESH:C565876
SIX6 Unknown — CTD
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA
MONDO:0000170
ABCB6 Unknown
22226084
GWAS catalog
GDF3 Unknown
19864492
Orphanet
PORCN Unknown
33111437
GWAS catalog
RBP4 Unknown
25910211
GWAS catalog
SHH Unknown
12503095
CTD
STRA6 Unknown
21901792
CTD
TENM3 Unknown
22766609
Disgenet
VSX2 Unknown
15257456
GWAS catalog
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10
C4225330MONDO:0014635
RBP4 Causal
25910211 29178648
ClinVar Disgenet GWAS catalog
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3
C1864721MESH:C566447MONDO:0012408
VSX2 Causal — CTD ClinVar Disgenet GenCC
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5
C1968843MESH:C566899MONDO:0012709
SHH Causal
12503095
CTD ClinVar Disgenet GWAS catalog
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
C3150968MONDO:0013376
GDF3 Unknown — ClinVar Disgenet GenCC
GDF6 Unknown — ClinVar Disgenet
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
MONDO:0013783
ABCB6 Causal
22226084
ClinGen ClinVar Orphanet
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8
C3540845
STRA6 Causal — Disgenet
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9
MONDO:0014059
TENM3 Causal
22766609 27103084 29753094 30513139
ClinVar Disgenet
MICROPHTHALMIA, LENZ TYPE
568MONDO:0018924
BCOR Unknown
15004558 20301694
GWAS catalog Orphanet
NAA10 Unknown
24431331
GWAS catalog Orphanet