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MCOP5
MCID: MCR122
MIFTS: 39

Microphthalmia, Isolated 5 (MCOP5)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Microphthalmia, Isolated 5

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MalaCards integrated aliases for Microphthalmia, Isolated 5:

Name: Microphthalmia, Isolated 5 57 29 13 6
Mcop5 57 12 72
Microphthalmia, Posterior, with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen 57 70
Microphthalmia-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome 12 58
Isolated Microphthalmia 5 12 15
Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis and Optic Disc Drusen 12
Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis and Optic Disk Drusen 72
Nanophthalmos-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome 58
Microphthalmia, Isolated, Type 5 39
Microphthalmia, Isolated, 5 72
Microphthalmia Mfrp-Related 72

Characteristics:

Orphanet epidemiological data:

58
microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
microphthalmia, isolated 5:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Eye diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060837
OMIM® 57 611040
OMIM Phenotypic Series 57 PS251600
MeSH 44 D008850
ICD10 32 Q15.8
ICD10 via Orphanet 33 Q15.8
UMLS via Orphanet 71 C1970236
Orphanet 58 ORPHA251279
MedGen 41 C1970236
UMLS 70 C1970236
Sources

Summaries for Microphthalmia, Isolated 5

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Disease Ontology : 12 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.

MalaCards based summary : Microphthalmia, Isolated 5, also known as mcop5, is related to nanophthalmos and retinitis pigmentosa. An important gene associated with Microphthalmia, Isolated 5 is MFRP (Membrane Frizzled-Related Protein). Affiliated tissues include eye, retina and bone, and related phenotypes are cataract and photophobia

UniProtKB/Swiss-Prot : 72 Microphthalmia, isolated, 5: A disorder characterized by posterior microphthalmia, retinitis pigmentosa, foveoschisis and optic disk drusen. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present.

More information from OMIM: 611040 PS251600
Sources

Related Diseases for Microphthalmia, Isolated 5

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Diseases in the Isolated Microphthalmia family:

Microphthalmia, Isolated 1 Microphthalmia, Isolated 2
Microphthalmia, Isolated 3 Microphthalmia, Isolated 5
Microphthalmia, Isolated 4 Microphthalmia, Isolated 6
Microphthalmia, Isolated 7 Microphthalmia, Isolated 8

Diseases related to Microphthalmia, Isolated 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 nanophthalmos 30.8 MFRP CUBN C1QTNF5
2 retinitis pigmentosa 10.7
3 neuroretinitis 10.7
4 optic disk drusen 10.7
5 retinitis 10.7
6 nanophthalmos 2 10.1 MFRP C1QTNF5
7 microphthalmia, isolated 6 10.1 MFRP C1QTNF5
8 myotonic cataract 10.0 PHOX2A KIF21A
9 marcus gunn phenomenon 10.0 PHOX2A KIF21A
10 hypotropia 9.9 PHOX2A KIF21A
11 late-onset retinal degeneration 9.9 MFRP C1QTNF5
12 fibrosis of extraocular muscles, congenital, 2 9.9 PHOX2A KIF21A
13 hypertropia 9.9 PHOX2A KIF21A
14 lagophthalmos 9.9 PHOX2A KIF21A
15 orbital disease 9.9 PHOX2A KIF21A
16 duane-radial ray syndrome 9.9 PHOX2A KIF21A
17 exotropia 9.9 PHOX2A KIF21A
18 cranial nerve disease 9.8 PHOX2A KIF21A
19 vitamin metabolic disorder 9.8 MTHFR CUBN
20 keratitis, hereditary 9.7 PHOX2A KIF21A
21 paralytic squint 9.7 TUBB2B PHOX2A KIF21A
22 partial third-nerve palsy 9.7 TUBB2B PHOX2A KIF21A
23 vitamin b12 deficiency 9.7 MTHFR CUBN
24 ocular motility disease 9.7 TUBB2B PHOX2A KIF21A
25 congenital ptosis 9.7 TUBB2B PHOX2A KIF21A
26 esotropia 9.7 TUBB2B PHOX2A KIF21A
27 tukel syndrome 9.7 TUBB2B PHOX2A KIF21A
28 duane retraction syndrome 9.7 TUBB2B PHOX2A KIF21A
29 strabismus 9.6 TUBB2B PHOX2A KIF21A
30 megaloblastic anemia 9.5 MTHFR CUBN

Graphical network of the top 20 diseases related to Microphthalmia, Isolated 5:



Diseases related to Microphthalmia, Isolated 5
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Symptoms & Phenotypes for Microphthalmia, Isolated 5

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Human phenotypes related to Microphthalmia, Isolated 5:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 cataract 31 occasional (7.5%) HP:0000518
2 photophobia 31 occasional (7.5%) HP:0000613
3 cystoid macular edema 31 occasional (7.5%) HP:0011505
4 microphthalmia 31 HP:0000568
5 reduced visual acuity 31 HP:0007663
6 nyctalopia 31 HP:0000662
7 abnormality of skin pigmentation 31 HP:0001000
8 rod-cone dystrophy 31 HP:0000510
9 hypermetropia 31 HP:0000540
10 retinal pigment epithelial atrophy 31 HP:0007722
11 bone spicule pigmentation of the retina 31 HP:0007737
12 scleral thickening 31 HP:0030823
13 abnormal light- and dark-adapted electroretinogram 31 HP:0008323
14 optic disc drusen 31 HP:0012426
15 foveoschisis 31 HP:0012152

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
hypermetropia
scleral thickening
foveoschisis
decreased visual acuity
night blindness
more

Clinical features from OMIM®:

611040 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Microphthalmia, Isolated 5 according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.53 C1QTNF5 MFRP
2 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.53 C1QTNF5 MFRP
3 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.53 C1QTNF5 MFRP MTHFR
4 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.53 MTHFR
5 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.53 C1QTNF5 MFRP
6 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.53 MTHFR
7 Increased shRNA abundance (Z-score > 2) GR00366-A-44 9.53 C1QTNF5 MFRP
8 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.53 MTHFR
9 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.53 MTHFR
10 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.53 MTHFR
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-178 9.26 C1QTNF5 MFRP
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.26 C1QTNF5 MFRP

MGI Mouse Phenotypes related to Microphthalmia, Isolated 5:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.63 C1QTNF5 CUBN KIF21A MTHFR PHOX2A TUBB2B
2 nervous system MP:0003631 9.43 C1QTNF5 KIF21A MFRP MTHFR PHOX2A TUBB2B
3 vision/eye MP:0005391 9.02 C1QTNF5 CUBN KIF21A MFRP MTHFR
Sources

Drugs & Therapeutics for Microphthalmia, Isolated 5

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Search Clinical Trials , NIH Clinical Center for Microphthalmia, Isolated 5

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Genetic Tests for Microphthalmia, Isolated 5

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Genetic tests related to Microphthalmia, Isolated 5:

# Genetic test Affiliating Genes
1 Microphthalmia, Isolated 5 29 MFRP
Sources

Anatomical Context for Microphthalmia, Isolated 5

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MalaCards organs/tissues related to Microphthalmia, Isolated 5:

40
Eye, Retina, Bone
Sources

Publications for Microphthalmia, Isolated 5

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Articles related to Microphthalmia, Isolated 5:

(show all 23)
# Title Authors PMID Year
1
Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa. 57 6
22605927 2012
2
Posterior microphthalmos as a genetically heterogeneous condition that can be allelic to nanophthalmos. 6 57
21670352 2011
3
A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy. 57 6
20361016 2010
4
Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex. 6 57
19753314 2009
5
A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen. 57 6
18554571 2008
6
A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. 6 57
17167404 2006
7
Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing. 6
30181649 2018
8
Genetic investigation of 93 families with microphthalmia or posterior microphthalmos. 6
29450879 2018
9
Gene Therapy Restores Mfrp and Corrects Axial Eye Length. 6
29170418 2017
10
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
11
Identification of MFRP Mutations in Chinese Families with High Hyperopia. 6
26583794 2016
12
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. 6
25412400 2015
13
Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa. 6
25097241 2014
14
Novel membrane frizzled-related protein gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular folds. 6
23742260 2014
15
Biometric and molecular characterization of clinically diagnosed posterior microphthalmos. 57
23127749 2013
16
Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish family. 6
23143909 2013
17
Gene therapy for retinitis pigmentosa caused by MFRP mutations: human phenotype and preliminary proof of concept. 6
22142163 2012
18
Membrane frizzled-related protein gene-related ophthalmological syndrome: 30-month follow-up of a sporadic case and review of genotype-phenotype correlation in the literature. 6
23112574 2012
19
Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein. 6
15976030 2005
20
Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6. 6
12140190 2002
21
Familial nanophthalmos. 6
1258954 1976
22
MFRP-Related Nanophthalmos-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome. 61
33626173 2021
23
Nanophthalmos-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome (MFRP). 61
31047555 2018
Sources

Variations for Microphthalmia, Isolated 5

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ClinVar genetic disease variations for Microphthalmia, Isolated 5:

6 (show top 50) (show all 204)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 C1QTNF5 , MFRP NM_031433.4(MFRP):c.951C>A (p.Tyr317Ter) SNV Pathogenic 183043 rs730882141 GRCh37: 11:119215049-119215049
GRCh38: 11:119344339-119344339
2 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1549C>T (p.Arg517Trp) SNV Pathogenic 183047 rs730882144 GRCh37: 11:119212449-119212449
GRCh38: 11:119341739-119341739
3 C1QTNF5 , MFRP NM_031433.4(MFRP):c.958C>T (p.Gln320Ter) SNV Pathogenic 209172 rs797045054 GRCh37: 11:119215042-119215042
GRCh38: 11:119344332-119344332
4 C1QTNF5 , MFRP NM_031433.4(MFRP):c.397G>T (p.Glu133Ter) SNV Pathogenic 468921 rs770341402 GRCh37: 11:119216513-119216513
GRCh38: 11:119345803-119345803
5 C1QTNF5 , MFRP NM_031433.4(MFRP):c.987G>A (p.Trp329Ter) SNV Pathogenic 834143 GRCh37: 11:119214663-119214663
GRCh38: 11:119343953-119343953
6 C1QTNF5 , MFRP NM_031433.4(MFRP):c.201G>A (p.Trp67Ter) SNV Pathogenic 183045 rs150232843 GRCh37: 11:119216826-119216826
GRCh38: 11:119346116-119346116
7 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1150dup (p.His384fs) Duplication Pathogenic 4474 rs587776595 GRCh37: 11:119213687-119213688
GRCh38: 11:119342977-119342978
8 C1QTNF5 , MFRP NM_031433.4(MFRP):c.498del (p.Asn167fs) Deletion Pathogenic 4476 rs587776596 GRCh37: 11:119216273-119216273
GRCh38: 11:119345563-119345563
9 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1250del (p.Thr417fs) Deletion Pathogenic 915296 GRCh37: 11:119213588-119213588
GRCh38: 11:119342878-119342878
10 C1QTNF5 , MFRP NM_031433.4(MFRP):c.629del (p.Gly210fs) Deletion Pathogenic 571158 rs1565295426 GRCh37: 11:119216142-119216142
GRCh38: 11:119345432-119345432
11 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1618_1621TCTG[1] (p.Val541fs) Microsatellite Pathogenic 183044 rs730882142 GRCh37: 11:119212373-119212376
GRCh38: 11:119341663-119341666
12 C1QTNF5 , MFRP NM_031433.4(MFRP):c.498dup (p.Asn167fs) Duplication Pathogenic 4478 rs587776596 GRCh37: 11:119216272-119216273
GRCh38: 11:119345562-119345563
13 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1124+1G>T SNV Pathogenic 631652 rs145719998 GRCh37: 11:119214525-119214525
GRCh38: 11:119343815-119343815
14 C1QTNF5 , MFRP NM_031433.4(MFRP):c.523C>T (p.Gln175Ter) SNV Pathogenic 4475 rs121908189 GRCh37: 11:119216248-119216248
GRCh38: 11:119345538-119345538
15 C1QTNF5 , MFRP NM_031433.4(MFRP):c.271+1G>A SNV Pathogenic/Likely pathogenic 970729 GRCh37: 11:119216755-119216755
GRCh38: 11:119346045-119346045
16 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1615C>T (p.Arg539Cys) SNV Likely pathogenic 560469 rs374823079 GRCh37: 11:119212383-119212383
GRCh38: 11:119341673-119341673
17 C1QTNF5 , MFRP NM_031433.4(MFRP):c.104dup (p.Pro36fs) Duplication Likely pathogenic 488459 rs749156010 GRCh37: 11:119217034-119217035
GRCh38: 11:119346324-119346325
18 C1QTNF5 , MFRP NM_031433.4(MFRP):c.491_492insT (p.Asn167fs) Insertion Likely pathogenic 183046 rs730882143 GRCh37: 11:119216279-119216280
GRCh38: 11:119345569-119345570
19 C1QTNF5 , MFRP NM_031433.4(MFRP):c.772+2T>G SNV Likely pathogenic 968260 GRCh37: 11:119215582-119215582
GRCh38: 11:119344872-119344872
20 C1QTNF5 , MFRP NM_031433.4(MFRP):c.641+1G>A SNV Likely pathogenic 842991 GRCh37: 11:119216129-119216129
GRCh38: 11:119345419-119345419
21 C1QTNF5 , MFRP NM_031433.4(MFRP):c.428-2A>G SNV Likely pathogenic 939555 GRCh37: 11:119216345-119216345
GRCh38: 11:119345635-119345635
22 C1QTNF5 , MFRP NM_031433.4(MFRP):c.899-2A>G SNV Likely pathogenic 488460 rs1245503127 GRCh37: 11:119215103-119215103
GRCh38: 11:119344393-119344393
23 C1QTNF5 , MFRP NM_031433.4(MFRP):c.160C>G (p.Arg54Gly) SNV Conflicting interpretations of pathogenicity 196562 rs139436396 GRCh37: 11:119216867-119216867
GRCh38: 11:119346157-119346157
24 C1QTNF5 , MFRP NM_031433.4(MFRP):c.773-8A>C SNV Conflicting interpretations of pathogenicity 302966 rs143891457 GRCh37: 11:119215475-119215475
GRCh38: 11:119344765-119344765
25 C1QTNF5 , MFRP NM_031433.4(MFRP):c.642-2A>G SNV Uncertain significance 497208 rs376898612 GRCh37: 11:119215716-119215716
GRCh38: 11:119345006-119345006
26 C1QTNF5 , MFRP NM_031433.4(MFRP):c.163C>T (p.Arg55Cys) SNV Uncertain significance 167300 rs727504016 GRCh37: 11:119216864-119216864
GRCh38: 11:119346154-119346154
27 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1616G>A (p.Arg539His) SNV Uncertain significance 1035134 GRCh37: 11:119212382-119212382
GRCh38: 11:119341672-119341672
28 C1QTNF5 , MFRP NM_031433.4(MFRP):c.127G>A (p.Ala43Thr) SNV Uncertain significance 1036015 GRCh37: 11:119217012-119217012
GRCh38: 11:119346302-119346302
29 C1QTNF5 , MFRP NM_031433.4(MFRP):c.436G>A (p.Gly146Ser) SNV Uncertain significance 1036413 GRCh37: 11:119216335-119216335
GRCh38: 11:119345625-119345625
30 C1QTNF5 , MFRP NM_031433.4(MFRP):c.739C>T (p.His247Tyr) SNV Uncertain significance 1037670 GRCh37: 11:119215617-119215617
GRCh38: 11:119344907-119344907
31 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1150C>G (p.His384Asp) SNV Uncertain significance 1040176 GRCh37: 11:119213688-119213688
GRCh38: 11:119342978-119342978
32 C1QTNF5 , MFRP NM_031433.4(MFRP):c.496C>A (p.Pro166Thr) SNV Uncertain significance 1041261 GRCh37: 11:119216275-119216275
GRCh38: 11:119345565-119345565
33 C1QTNF5 , MFRP NM_031433.4(MFRP):c.178C>T (p.Arg60Trp) SNV Uncertain significance 1042115 GRCh37: 11:119216849-119216849
GRCh38: 11:119346139-119346139
34 C1QTNF5 , MFRP NM_031433.4(MFRP):c.546A>G (p.Ile182Met) SNV Uncertain significance 1042301 GRCh37: 11:119216225-119216225
GRCh38: 11:119345515-119345515
35 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1255+5G>A SNV Uncertain significance 1044204 GRCh37: 11:119213578-119213578
GRCh38: 11:119342868-119342868
36 C1QTNF5 , MFRP NM_031433.4(MFRP):c.551T>G (p.Leu184Arg) SNV Uncertain significance 1047230 GRCh37: 11:119216220-119216220
GRCh38: 11:119345510-119345510
37 C1QTNF5 , MFRP NM_031433.4(MFRP):c.950A>G (p.Tyr317Cys) SNV Uncertain significance 167295 rs151160924 GRCh37: 11:119215050-119215050
GRCh38: 11:119344340-119344340
38 C1QTNF5 , MFRP NM_031433.4(MFRP):c.342C>G (p.Thr114=) SNV Uncertain significance 877117 GRCh37: 11:119216568-119216568
GRCh38: 11:119345858-119345858
39 C1QTNF5 , MFRP NM_031433.4(MFRP):c.321C>T (p.Ala107=) SNV Uncertain significance 877118 GRCh37: 11:119216589-119216589
GRCh38: 11:119345879-119345879
40 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*1629T>C SNV Uncertain significance 877700 GRCh37: 11:119210040-119210040
GRCh38: 11:119339330-119339330
41 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*895C>T SNV Uncertain significance 302933 rs751853220 GRCh37: 11:119211109-119211109
GRCh38: 11:119340399-119340399
42 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*178C>T SNV Uncertain significance 302945 rs886047826 GRCh37: 11:119212080-119212080
GRCh38: 11:119341370-119341370
43 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*116C>T SNV Uncertain significance 877778 GRCh37: 11:119212142-119212142
GRCh38: 11:119341432-119341432
44 C1QTNF5 , MFRP NM_031433.4(MFRP):c.898+5G>A SNV Uncertain significance 877887 GRCh37: 11:119215337-119215337
GRCh38: 11:119344627-119344627
45 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1366G>A (p.Gly456Ser) SNV Uncertain significance 302954 rs369531002 GRCh37: 11:119213327-119213327
GRCh38: 11:119342617-119342617
46 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1257C>A (p.Asn419Lys) SNV Uncertain significance 878001 GRCh37: 11:119213436-119213436
GRCh38: 11:119342726-119342726
47 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1071C>T (p.Asp357=) SNV Uncertain significance 878002 GRCh37: 11:119214579-119214579
GRCh38: 11:119343869-119343869
48 C1QTNF5 , MFRP NM_031433.4(MFRP):c.779G>C (p.Cys260Ser) SNV Uncertain significance 878051 GRCh37: 11:119215461-119215461
GRCh38: 11:119344751-119344751
49 C1QTNF5 , MFRP NM_031433.4(MFRP):c.303C>T (p.Ser101=) SNV Uncertain significance 302974 rs530322096 GRCh37: 11:119216607-119216607
GRCh38: 11:119345897-119345897
50 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*1250G>A SNV Uncertain significance 878728 GRCh37: 11:119210419-119210419
GRCh38: 11:119339709-119339709
Sources

Expression for Microphthalmia, Isolated 5

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Search GEO for disease gene expression data for Microphthalmia, Isolated 5.
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Pathways for Microphthalmia, Isolated 5

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GO Terms for Microphthalmia, Isolated 5

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Sources for Microphthalmia, Isolated 5

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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