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	coloboma, ocular

Disease ID	1459
Disease	coloboma, ocular
Synonym	coi coi - coloboma of iris, choroid and retina coloboma coloboma [disease/finding] coloboma eye coloboma of eye coloboma of eye (disorder) coloboma of eye, nos coloboma of iris, choroid and retina coloboma of iris, choroid, and retina coloboma of iris, retina, and choroid coloboma of the eye coloboma, ocular, autosomal dominant coloboma, uveoretinal colobomas colobomata congenital ocular coloboma congenital ocular coloboma (disorder) congenital ocular coloboma, nos ocular coloboma ocular coloboma, nos ocular colobomas uveoretinal coloboma
Orphanet	ORPHANET:194
OMIM	OMIM:120200
DOID	DOID:12270
UMLS	C2700502
MeSH	D003103
SNOMED-CT	SNOMEDCT_US_2016_09_01:93390002;SNOMEDCT_US_2016_09_01:92828000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:18) C0035305 \| retinal detachment \| 7 C1535927 \| charge syndrome \| 5 C0086543 \| cataract \| 3 C0026010 \| microphthalmos \| 2 C0003076 \| aniridia \| 2 C0004134 \| ataxia \| 2 C0431399 \| joubert syndrome \| 1 C0013080 \| trisomy 21 \| 1 C0022578 \| keratoconus \| 1 C0038379 \| squint \| 1 C0007758 \| cerebellar ataxia \| 1 C0018784 \| sensorineural hearing loss \| 1 C0265240 \| goldenhar syndrome \| 1 C0423361 \| posterior vitreous detachment \| 1 C0013592 \| ectropion \| 1 C0265240 \| goldenhar's syndrome \| 1 C0011649 \| dermoid \| 1 C0152439 \| retinoschisis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:15) 4094 \| MAF \| GHR 10058 \| ABCB6 \| ORPHANET 6469 \| SHH \| CTD_human;GHR;ORPHANET;UNIPROT 5080 \| PAX6 \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT 5015 \| OTX2 \| GHR 9573 \| GDF3 \| CLINVAR;GHR 71 \| ACTG1 \| CTD_human 60 \| ACTB \| CTD_human 501 \| ALDH7A1 \| CTD_human 3912 \| LAMB1 \| CTD_human 392255 \| GDF6 \| CTD_human;GHR 10413 \| YAP1 \| CLINVAR 338917 \| VSX2 \| GHR 6297 \| SALL2 \| ORPHANET 9158 \| FIBP \| CLINVAR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:134) 60 \| ACTB \| 1.703 \| DISEASES 71 \| ACTG1 \| 3.494 \| DISEASES 8754 \| ADAM9 \| 1.147 \| DISEASES 23746 \| AIPL1 \| 2.428 \| DISEASES 220 \| ALDH1A3 \| 3.342 \| DISEASES 85365 \| ALG2 \| 2.469 \| DISEASES 200894 \| ARL13B \| 2.006 \| DISEASES 444 \| ASPH \| 1.158 \| DISEASES 55252 \| ASXL2 \| 2.154 \| DISEASES 220202 \| ATOH7 \| 1.747 \| DISEASES 54880 \| BCOR \| 2.606 \| DISEASES 80114 \| BICC1 \| 1.998 \| DISEASES 655 \| BMP7 \| 2.534 \| DISEASES 100190949 \| C5orf52 \| 3.656 \| DISEASES 57545 \| CC2D2A \| 3.053 \| DISEASES 80184 \| CEP290 \| 3.392 \| DISEASES 1106 \| CHD2 \| 2.522 \| DISEASES 55636 \| CHD7 \| 6.768 \| DISEASES 1121 \| CHM \| 1.115 \| DISEASES 1123 \| CHN1 \| 1.936 \| DISEASES 26504 \| CNNM4 \| 2.153 \| DISEASES 54875 \| CNTLN \| 1.325 \| DISEASES 1301 \| COL11A1 \| 1.044 \| DISEASES 1286 \| COL4A4 \| 1.16 \| DISEASES 23418 \| CRB1 \| 1.973 \| DISEASES 1413 \| CRYBA4 \| 3.353 \| DISEASES 1499 \| CTNNB1 \| 1.624 \| DISEASES 192668 \| CYS1 \| 1.513 \| DISEASES 1741 \| DLG3 \| 1.556 \| DISEASES 1759 \| DNM1 \| 1.184 \| DISEASES 9343 \| EFTUD2 \| 2.031 \| DISEASES 80712 \| ESX1 \| 2.21 \| DISEASES 2139 \| EYA2 \| 2.251 \| DISEASES 2200 \| FBN1 \| 1.26 \| DISEASES 8822 \| FGF17 \| 1.954 \| DISEASES 2248 \| FGF3 \| 2.831 \| DISEASES 2253 \| FGF8 \| 2.33 \| DISEASES 2260 \| FGFR1 \| 2.918 \| DISEASES 2263 \| FGFR2 \| 1.483 \| DISEASES 9158 \| FIBP \| 3.126 \| DISEASES 23767 \| FLRT3 \| 2.509 \| DISEASES 2296 \| FOXC1 \| 1.864 \| DISEASES 2301 \| FOXE3 \| 3.498 \| DISEASES 399823 \| FOXI2 \| 3.361 \| DISEASES 158326 \| FREM1 \| 2.949 \| DISEASES 7855 \| FZD5 \| 1.784 \| DISEASES 8325 \| FZD8 \| 2.821 \| DISEASES 9573 \| GDF3 \| 4.816 \| DISEASES 2737 \| GLI3 \| 1.322 \| DISEASES 3052 \| HCCS \| 1.237 \| DISEASES 8925 \| HERC1 \| 2.557 \| DISEASES 3166 \| HMX1 \| 1.946 \| DISEASES 9653 \| HS2ST1 \| 2.594 \| DISEASES 90161 \| HS6ST2 \| 2.446 \| DISEASES 219844 \| HYLS1 \| 1.214 \| DISEASES 3476 \| IGBP1 \| 1.503 \| DISEASES 56623 \| INPP5E \| 2.333 \| DISEASES 6453 \| ITSN1 \| 1.957 \| DISEASES 3786 \| KCNQ3 \| 1.139 \| DISEASES 84678 \| KDM2B \| 3.055 \| DISEASES 9851 \| KIAA0753 \| 1.58 \| DISEASES 55083 \| KIF26B \| 2.586 \| DISEASES 3814 \| KISS1 \| 1.635 \| DISEASES 167691 \| LCA5 \| 2.14 \| DISEASES 10586 \| MAB21L2 \| 4.095 \| DISEASES 4094 \| MAF \| 2.398 \| DISEASES 5602 \| MAPK10 \| 2.125 \| DISEASES 5601 \| MAPK9 \| 1.417 \| DISEASES 4212 \| MEIS2 \| 1.987 \| DISEASES 83552 \| MFRP \| 1.383 \| DISEASES 25974 \| MMACHC \| 1.529 \| DISEASES 79840 \| NHEJ1 \| 2.034 \| DISEASES 64067 \| NPAS3 \| 2.076 \| DISEASES 340371 \| NRBP2 \| 3.293 \| DISEASES 4901 \| NRL \| 1.169 \| DISEASES 5015 \| OTX2 \| 3.982 \| DISEASES 5048 \| PAFAH1B1 \| 1.116 \| DISEASES 5076 \| PAX2 \| 6 \| DISEASES 5077 \| PAX3 \| 1.335 \| DISEASES 5080 \| PAX6 \| 5.617 \| DISEASES 5083 \| PAX9 \| 2.426 \| DISEASES 65979 \| PHACTR4 \| 2.915 \| DISEASES 23236 \| PLCB1 \| 1.317 \| DISEASES 55624 \| POMGNT1 \| 1.421 \| DISEASES 64840 \| PORCN \| 2.605 \| DISEASES 728378 \| POTEF \| 3.056 \| DISEASES 5457 \| POU4F1 \| 1.348 \| DISEASES 5631 \| PRPS1 \| 1.596 \| DISEASES 8643 \| PTCH2 \| 2.43 \| DISEASES 22827 \| PUF60 \| 4.368 \| DISEASES 135250 \| RAET1E \| 1.489 \| DISEASES 343035 \| RD3 \| 1.662 \| DISEASES 57096 \| RPGRIP1 \| 1.394 \| DISEASES 23322 \| RPGRIP1L \| 2.395 \| DISEASES 23429 \| RYBP \| 2.088 \| DISEASES 6297 \| SALL2 \| 3.619 \| DISEASES 23513 \| SCRIB \| 2.062 \| DISEASES 10806 \| SDCCAG8 \| 1.884 \| DISEASES 85358 \| SHANK3 \| 1.209 \| DISEASES 140885 \| SIRPA \| 1.058 \| DISEASES 4990 \| SIX6 \| 2.459 \| DISEASES 83733 \| SLC25A18 \| 1.705 \| DISEASES 64093 \| SMOC1 \| 2.449 \| DISEASES 58533 \| SNX6 \| 2.905 \| DISEASES 6663 \| SOX10 \| 1.529 \| DISEASES 6664 \| SOX11 \| 2.191 \| DISEASES 6657 \| SOX2 \| 3.496 \| DISEASES 81848 \| SPRY4 \| 1.68 \| DISEASES 6709 \| SPTAN1 \| 1.251 \| DISEASES 64220 \| STRA6 \| 3.266 \| DISEASES 29091 \| STXBP6 \| 2.722 \| DISEASES 6899 \| TBX1 \| 1.466 \| DISEASES 50945 \| TBX22 \| 3.106 \| DISEASES 10732 \| TCFL5 \| 1.073 \| DISEASES 6949 \| TCOF1 \| 2.475 \| DISEASES 79600 \| TCTN1 \| 2.583 \| DISEASES 10178 \| TENM1 \| 1.772 \| DISEASES 55714 \| TENM3 \| 2.941 \| DISEASES 7020 \| TFAP2A \| 3.519 \| DISEASES 51259 \| TMEM216 \| 2.404 \| DISEASES 91147 \| TMEM67 \| 3.965 \| DISEASES 7159 \| TP53BP2 \| 1.593 \| DISEASES 7227 \| TRPS1 \| 1.503 \| DISEASES 5756 \| TWF1 \| 2.746 \| DISEASES 7319 \| UBE2A \| 2.236 \| DISEASES 9218 \| VAPA \| 1.036 \| DISEASES 11023 \| VAX1 \| 4.326 \| DISEASES 79971 \| WLS \| 1.492 \| DISEASES 25937 \| WWTR1 \| 1.277 \| DISEASES 8565 \| YARS \| 2.661 \| DISEASES 57683 \| ZDBF2 \| 3.55 \| DISEASES 7546 \| ZIC2 \| 3.001 \| DISEASES 84858 \| ZNF503 \| 3.099 \| DISEASES 80139 \| ZNF703 \| 2.236 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1459
Disease	coloboma, ocular
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:1) HP:0007748 \| Irido-fundal coloboma
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:33) HP:0000568 \| Abnormally small globe of eye \| 10 HP:0000541 \| Detached retina \| 8 HP:0000518 \| Cataract \| 4 HP:0000482 \| Microcornea \| 2 HP:0001251 \| Ataxia \| 2 HP:0000556 \| Retinal dystrophy \| 2 HP:0000526 \| Absent iris \| 2 HP:0000528 \| Absence of eyeballs \| 2 HP:0010543 \| Opsoclonus \| 1 HP:0009918 \| Displaced pupil \| 1 HP:0002664 \| Neoplasia \| 1 HP:0011510 \| Drusen \| 1 HP:0000501 \| Glaucoma \| 1 HP:0100019 \| Cortical cataract \| 1 HP:0003510 \| Proportionate dwarfism \| 1 HP:0000110 \| Renal dysplasia \| 1 HP:0000107 \| Renal cyst \| 1 HP:0030502 \| Retinoschisis \| 1 HP:0001489 \| Posterior vitreous detachment \| 1 HP:0000609 \| Optic nerve hypoplasia \| 1 HP:0004409 \| Decreased smell sensation \| 1 HP:0000486 \| Squint eyes \| 1 HP:0000612 \| Iris coloboma \| 1 HP:0000347 \| Hypoplasia of mandible \| 1 HP:0000356 \| Ear anomalies \| 1 HP:0000407 \| sensorineural hearing loss \| 1 HP:0012230 \| Rhegmatogenous retinal detachment \| 1 HP:0000656 \| Ectropion \| 1 HP:0000316 \| Increased distance between eye sockets \| 1 HP:0011498 \| Partial aniridia \| 1 HP:0100807 \| Long fingers \| 1 HP:0007633 \| Abnormally small eyeball on both sides \| 1 HP:0000563 \| Conical cornea \| 1

Disease ID	1459
Disease	coloboma, ocular
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:4)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121907925	NA	5080	PAX6	umls:C0009363	CLINVAR	NA	0.480814326	NA	PAX6	11	31793795	A	G
rs387906945	NA	9573	GDF3	umls:C0009363	CLINVAR	NA	0.120271442	NA	GDF3	12	7690059	A	G
rs587777249	NA	10413	YAP1	umls:C0009363	CLINVAR	NA	0.120542884	NA	YAP1	11	102114192	C	T
rs786204849	NA	9158	FIBP	umls:C0009363	CLINVAR	NA	0.12	NA	FIBP	11	65885181	G	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0007748	Irido-fundal coloboma	MP:0005262	coloboma	anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0007748	Irido-fundal coloboma	MP:0013791	absent external nares	absence or failure to form both of the anterior openings to the nasal cavity

Disease ID	1459
Disease	coloboma, ocular
Case	(Waiting for update.)

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