Details of Disease

General Information of Disease (ID: DISGEBES)

Disease Name Microphthalmia
Synonyms microphthalmos; nanophthalmos; simple microphthalmos; microphthalmia
Definition Congenital or developmental anomaly in which the eyeballs are abnormally small.
Disease Hierarchy
DISB52BH: Eye disorder
DISGEBES: Microphthalmia
Disease Identifiers
MONDO ID
MONDO_0021129
MESH ID
D008850
UMLS CUI
C0026010
MedGen ID
10033
HPO ID
HP:0000568
SNOMED CT ID
204108000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 66 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ZNF219 OTO94WQ1 Limited Autosomal recessive [1]
VSX2 OTW2E47S Strong Autosomal recessive [1]
AIPL1 OT4VBD78 Limited Genetic Variation [22]
ALDH1A3 OT1C9NKQ Limited Genetic Variation [23]
APCDD1 OTV9AD0L Limited Biomarker [24]
ARSD OTAHW9M8 Limited Biomarker [25]
BFSP2 OT3QREFR Limited Genetic Variation [26]
CDK5RAP2 OTRKEVTY Limited Biomarker [27]
CITED1 OTUJQ3VL Limited Altered Expression [28]
CRB1 OTXYUNG0 Limited Genetic Variation [29]
CRIM1 OTTZNV6Y Limited Altered Expression [30]
E2F4 OTB3JFH4 Limited Altered Expression [7]
ERCC6 OT2QZKSF Limited Biomarker [31]
FZD1 OTZATHVS Limited Biomarker [14]
FZD5 OTXFFY56 Limited Biomarker [14]
IPO13 OT887N3O Limited Biomarker [32]
LIM2 OTK7R6HC Limited Biomarker [33]
LRP4 OTO4M459 Limited Altered Expression [34]
MEIS1 OTH9DKAD Limited Biomarker [35]
MITF OT6XJCZH Limited Genetic Variation [36]
NEO1 OTGJ1997 Limited Biomarker [37]
NFE2L1 OT1QHOS2 Limited Biomarker [38]
OLFM2 OT7TSF7I Limited Biomarker [39]
PITX3 OTE2KT8P Limited Genetic Variation [40]
RAB27A OT9SQRWY Limited Altered Expression [41]
RASGRP1 OTX9WN2E Limited Biomarker [42]
RBM24 OTQI1AR1 Limited Altered Expression [43]
SOX8 OTEJXYZM Limited Biomarker [44]
STRA6 OT2IDF27 Limited Genetic Variation [45]
TFE3 OTM99ZWH Limited Altered Expression [46]
TMX3 OTHHW2B4 Limited Genetic Variation [47]
SNX3 OTXL5W8F Disputed Genetic Variation [48]
ALX1 OTZVARA5 moderate Biomarker [49]
COX7B OT67PIDP moderate Biomarker [50]
OTX2 OTTV05B1 moderate Genetic Variation [51]
TMEM98 OTKDUEED moderate Genetic Variation [52]
BCOR OTG013AX Strong Genetic Variation [53]
BEST1 OTWHE1ZC Strong GermlineCausalMutation [54]
CHD7 OTHNIZWZ Strong Genetic Variation [55]
COL4A1 OTL6D1YE Strong Genetic Variation [56]
CRYBB2 OTL0Z8E6 Strong Biomarker [57]
DSEL OTVNQD3I Strong Biomarker [58]
GDF6 OTERXWJU Strong Genetic Variation [59]
HCCS OTQE88BE Strong Genetic Variation [60]
HMX1 OT65ZGE0 Strong Biomarker [61]
KMT2D OTTVHCLY Strong Biomarker [62]
MYRF OTKF6AEB Strong Biomarker [63]
NR2E1 OTW47GKM Strong Genetic Variation [64]
PAX2 OTKP1N8F Strong Genetic Variation [65]
POU3F2 OT30NFOC Strong Altered Expression [66]
PRSS56 OTPPXTBB Strong Genetic Variation [67]
RANBP2 OTFG5CVF Strong Altered Expression [16]
SALL4 OTC08PR5 Strong Genetic Variation [68]
STAU2 OTORNUIF Strong Biomarker [69]
TFEB OTJUJJQY Strong Biomarker [46]
CRYBA4 OTQJ5XGE Definitive Genetic Variation [70]
DCT OTYVNTBG Definitive Altered Expression [41]
MAB21L2 OTZM5VMX Definitive Biomarker [71]
PQBP1 OTXCBEAH Definitive Genetic Variation [72]
PXDN OTFGGM9R Definitive Genetic Variation [73]
RAX OTJ3YCE7 Definitive Genetic Variation [74]
RTL1 OTOT33IM Definitive Altered Expression [75]
SOX6 OTT0W0LE Definitive Altered Expression [76]
TENM1 OTSKSU4V Definitive Genetic Variation [77]
TENM3 OTWY13GR Definitive Genetic Variation [78]
TFEC OTUST8MR Definitive Altered Expression [46]
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⏷ Show the Full List of 66 DOT(s)
This Disease Is Related to 23 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
C3AR1 TTI6B3F Limited Biomarker [2]
CRYAA TT8CWJG Limited Genetic Variation [3]
CRYBB1 TTDS503 Limited Genetic Variation [4]
CTSK TTDZN01 Limited Altered Expression [5]
DAPK3 TTERVQN Limited Altered Expression [6]
E2F2 TT5FYX0 Limited Altered Expression [7]
GJA3 TTFZRG0 Limited Genetic Variation [8]
MAPK10 TT056SO Limited Biomarker [9]
TRPM1 TTTDAI9 Limited Genetic Variation [10]
GJA8 TTJ7ATH moderate Biomarker [11]
FFAR4 TT08JVB Strong CausalMutation [12]
GLI2 TT045OH Strong Altered Expression [13]
LRP5 TT7VMG4 Strong Genetic Variation [14]
PORCN TTNFBTO Strong Genetic Variation [15]
PRSS1 TT2WR1T Strong Altered Expression [16]
RARB TTISP28 Strong Biomarker [17]
RBP4 TT0C8BY Strong Genetic Variation [12]
SHH TTIENCJ Strong Genetic Variation [18]
TFAP2A TTDY4BS Strong Genetic Variation [19]
TRPC1 TTA76X0 Strong Altered Expression [16]
TYR TTULVH8 Strong Biomarker [20]
TYRP1 TTFRV98 Strong Altered Expression [16]
ZEB2 TTT2WK4 Strong Genetic Variation [21]
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⏷ Show the Full List of 23 DTT(s)

References

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