RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: isolated microphthalmia 5
Accession: DOID:0060837
browse the term
Definition: An isolated microphthalmia characterized by autosomal recessive inheritance of posterior microphthalmia, hypermetropia, night blindness, decreased visual acuity, reduced macular reflex, scleral thickening, impared rod and cone responses on ERG, foveoschisis and in some patients retinal pigment epithelium atrophy, arteriolar attenuation, angle-closure glaucoma and optic disc drusen that has_material_basis_in homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23. (DO)
Synonyms: exact_synonym: MCOP5; microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome; posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen
primary_id: MESH:C567024
alt_id: OMIM:611040
xref: ICD10CM:Q15.8 ; ORDO:251279
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Abcg4
ATP binding cassette subfamily G member 4
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,611,187...44,629,818
Ensembl chr 8:44,611,187...44,626,881
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Apoa1
apolipoprotein A1
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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Apoa4
apolipoprotein A4
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
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Apoc3
apolipoprotein C3
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
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Arcn1
archain 1
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,057,617...45,082,224
Ensembl chr 8:45,057,619...45,082,247
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Arhgef12
Rho guanine nucleotide exchange factor 12
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:43,350,070...43,475,404
Ensembl chr 8:43,353,799...43,476,366
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Atp5mg
ATP synthase membrane subunit G
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,225,680...45,233,630
Ensembl chr 8:45,225,686...45,233,559
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Bace1
beta-secretase 1
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:46,142,060...46,166,268
Ensembl chr 8:46,142,116...46,165,876
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Bcl9l
BCL9 like
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,811,977...44,840,611
Ensembl chr 8:44,811,977...44,840,611
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C1qtnf5
C1q and TNF related 5
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5 | ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen
ClinVar
PMID:1258954 PMID:9536098 PMID:12140190 PMID:15976030 PMID:16199547 PMID:17167404 PMID:17576681 PMID:18554571 PMID:18648522 PMID:19169412 PMID:19753314 PMID:20361016 PMID:21670352 PMID:22142163 PMID:22605927 PMID:22892318 PMID:23112574 PMID:23127749 PMID:23143909 PMID:23742260 PMID:24088041 PMID:24531000 PMID:25097241 PMID:25412400 PMID:25741868 PMID:26583794 PMID:26633545 PMID:28041643 PMID:28224992 PMID:28492532 PMID:29170418 PMID:29450879 PMID:30181649 PMID:30653986 PMID:31106028 PMID:31992737 PMID:32052405 PMID:32118495 PMID:32703043 PMID:32830442 PMID:32996714 PMID:33203948 More...
NCBI chr 8:44,450,934...44,453,075
Ensembl chr 8:44,451,154...44,453,074
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C2cd2l
C2CD2-like
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,648,074...44,658,856
Ensembl chr 8:44,648,079...44,658,340
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Cbl
Cbl proto-oncogene
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
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Cd3d
CD3 delta subunit of T-cell receptor complex
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809
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Cd3e
CD3 epsilon subunit of T-cell receptor complex
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,303,848...45,315,005
Ensembl chr 8:45,303,852...45,315,022
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Cd3g
CD3 gamma subunit of T-cell receptor complex
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,280,797...45,287,271
Ensembl chr 8:45,281,204...45,287,147
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Cenatac
centrosomal AT-AC splicing factor
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,735,968...44,742,859
Ensembl chr 8:44,735,972...44,742,837
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Cep164
centrosomal protein 164
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:46,070,901...46,134,511
Ensembl chr 8:46,071,076...46,134,336
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Cxcr5
C-X-C motif chemokine receptor 5
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,842,098...44,858,425
Ensembl chr 8:44,843,413...44,857,893
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Ddx6
DEAD-box helicase 6
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,931,127...44,967,773
Ensembl chr 8:44,931,974...44,964,405
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Dpagt1
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087
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Drc12
dynein regulatory complex subunit 12 homolog
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,576,528...44,584,345
Ensembl chr 8:44,577,836...44,584,338
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Dscaml1
DS cell adhesion molecule-like 1
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,740,298...46,057,322
Ensembl chr 8:45,740,298...46,057,320
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Foxr1
forkhead box R1
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,760,587...44,768,696
Ensembl chr 8:44,760,948...44,768,880
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Fxyd2
FXYD domain-containing ion transport regulator 2
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,712,901...45,720,032
Ensembl chr 8:45,712,903...45,720,203
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Fxyd6
FXYD domain-containing ion transport regulator 6
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,679,054...45,705,958
Ensembl chr 8:45,678,885...45,705,958
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Grik4
glutamate ionotropic receptor kainate type subunit 4
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:42,903,043...43,331,990
Ensembl chr 8:42,905,056...43,193,751
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H2ax
H2A.X variant histone
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,671,907...44,673,262
Ensembl chr 8:44,671,786...44,673,239
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Hinfp
histone H4 transcription factor
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,634,333...44,644,288
Ensembl chr 8:44,634,333...44,641,000
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Hmbs
hydroxymethylbilane synthase
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
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Hyou1
hypoxia up-regulated 1
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186
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Ift46
intraflagellar transport 46
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,081,593...45,104,052
Ensembl chr 8:45,087,440...45,104,052
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Il10ra
interleukin 10 receptor subunit alpha
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,563,009...45,578,041
Ensembl chr 8:45,563,137...45,578,061
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Jaml
junction adhesion molecule like
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,384,836...45,415,459
Ensembl chr 8:45,383,495...45,416,565
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Kmt2a
lysine methyltransferase 2A
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181
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Mcam
melanoma cell adhesion molecule
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,479,391...44,487,575
Ensembl chr 8:44,479,376...44,487,571
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Mfrp
membrane frizzled-related protein
ISO
DNA:deletion,nonsense mutation:exons:p.N167TfsX25,p.Y317X(human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Isolated microphthalmia 5 | ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen
OMIM CTD ClinVar RGD
PMID:1258954 PMID:9536098 PMID:12140190 PMID:15976030 PMID:16199547 PMID:17167404 PMID:17576681 PMID:18554571 PMID:18648522 PMID:19169412 PMID:19753314 PMID:20361016 PMID:21670352 PMID:22142163 PMID:22605927 PMID:22892318 PMID:23112574 PMID:23127749 PMID:23143909 PMID:23742260 PMID:24088041 PMID:24531000 PMID:25097241 PMID:25412400 PMID:25741868 PMID:26583794 PMID:26633545 PMID:28041643 PMID:28224992 PMID:28492532 PMID:29170418 PMID:29450879 PMID:30181649 PMID:30653986 PMID:31106028 PMID:31992737 PMID:32052405 PMID:32118495 PMID:32703043 PMID:32830442 PMID:32996714 PMID:33203948 PMID:19753314 More...
RGD:11553925
NCBI chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859
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Mpzl2
myelin protein zero-like 2
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,348,285...45,359,298
Ensembl chr 8:45,348,285...45,359,298
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Mpzl3
myelin protein zero-like 3
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,360,475...45,380,662
Ensembl chr 8:45,349,054...45,380,662
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Nectin1
nectin cell adhesion molecule 1
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
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Nherf4
NHERF family PDZ scaffold protein 4
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,584,390...44,588,838
Ensembl chr 8:44,584,390...44,588,860
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Nlrx1
NLR family member X1
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,588,476...44,606,678
Ensembl chr 8:44,590,048...44,606,484
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Oaf
out at first homolog
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:43,594,362...43,612,334
Ensembl chr 8:43,594,363...43,612,334
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Pafah1b2
platelet-activating factor acetylhydrolase 1b, catalytic subunit 2
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:46,260,069...46,312,073
Ensembl chr 8:46,261,064...46,279,833
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Pcsk7
proprotein convertase subtilisin/kexin type 7
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:46,202,079...46,224,699
Ensembl chr 8:46,202,131...46,224,705
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Phldb1
pleckstrin homology-like domain, family B, member 1
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,003,543...45,051,541
Ensembl chr 8:45,003,538...45,051,522
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Pou2f3
POU class 2 homeobox 3
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:43,495,408...43,577,795
Ensembl chr 8:43,495,527...43,577,795
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Rnf214
ring finger protein 214
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:46,166,269...46,202,048
Ensembl chr 8:46,166,598...46,201,576
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Rnf26
ring finger protein 26
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,454,551...44,456,745
Ensembl chr 8:44,454,292...44,457,331
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Rps25
ribosomal protein s25
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,733,623...44,735,999
Ensembl chr 8:44,733,029...44,737,271
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Sc5d
sterol-C5-desaturase
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:42,629,649...42,641,257
Ensembl chr 8:42,632,672...42,641,273
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Scn2b
sodium voltage-gated channel beta subunit 2
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,425,629...45,437,765
Ensembl chr 8:45,425,629...45,437,765
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Scn4b
sodium voltage-gated channel beta subunit 4
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292
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Sidt2
SID1 transmembrane family, member 2
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:46,232,379...46,248,913
Ensembl chr 8:46,232,383...46,248,700
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Sik3
SIK family kinase 3
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:46,312,253...46,522,444
Ensembl chr 8:46,311,989...46,522,444
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Slc37a4
solute carrier family 37 member 4
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301
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Sorl1
sortilin related receptor 1
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:42,341,704...42,504,435
Ensembl chr 8:42,341,704...42,504,513
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Tagln
transgelin
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:46,224,939...46,230,413
Ensembl chr 8:46,222,472...46,230,668
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Tbcel
tubulin folding cofactor E-like
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:42,795,648...42,854,552
Ensembl chr 8:42,796,730...42,854,552
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Tecta
tectorin alpha
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707
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Thy1
Thy-1 cell surface antigen
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,389,495...44,394,688
Ensembl chr 8:44,389,513...44,394,659
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Tlcd5
TLC domain containing 5
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:43,481,388...43,486,288
Ensembl chr 8:43,479,016...43,486,290
G
Tmem25
transmembrane protein 25
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,107,116...45,112,657
Ensembl chr 8:45,107,121...45,116,389
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Tmprss13
transmembrane serine protease 13
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,625,759...45,653,943
Ensembl chr 8:45,625,626...45,653,938
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Tmprss4
transmembrane serine protease 4
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,475,819...45,508,409
Ensembl chr 8:45,476,053...45,508,409
G
Trappc4
trafficking protein particle complex subunit 4
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,729,458...44,733,285
Ensembl chr 8:44,725,331...44,733,491
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Treh
trehalase
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,990,182...45,003,881
Ensembl chr 8:44,990,182...45,003,540
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Trim29
tripartite motif-containing 29
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:43,682,221...43,706,992
Ensembl chr 8:43,682,221...43,706,992
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Ttc36
tetratricopeptide repeat domain 36
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,112,737...45,116,345
G
Ube4a
ubiquitination factor E4A
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:45,236,022...45,278,129
Ensembl chr 8:45,236,026...45,278,038
G
Upk2
uroplakin 2
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,779,198...44,781,190
Ensembl chr 8:44,779,198...44,781,190
G
Usp2
ubiquitin specific peptidase 2
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,411,457...44,439,668
Ensembl chr 8:44,411,607...44,438,331
G
Vps11
VPS11 core subunit of CORVET and HOPS complexes
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 5
ClinVar
PMID:28492532
NCBI chr 8:44,684,129...44,698,568
Ensembl chr 8:44,684,127...44,698,568
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