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	primary congenital glaucoma

Disease ID	1601
Disease	primary congenital glaucoma
Synonym	primary congenital glaucoma (disorder) primary infantile glaucoma
Orphanet	ORPHANET:98976
DOID	DOID:0050593
UMLS	C1533041
SNOMED-CT	SNOMEDCT_US_2016_09_01:415176004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:10) C0002418 \| amblyopia \| 1 C0013080 \| trisomy 21 \| 1 C0035334 \| retinitis pigmentosa \| 1 C0036454 \| visual field defect \| 1 C0035333 \| retinitis \| 1 C0036454 \| visual field defects \| 1 C0036454 \| visual field loss \| 1 C0085113 \| neurofibromatosis \| 1 C0035305 \| retinal detachment \| 1 C0456909 \| blindness \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 1545 \| CYP1B1 \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:41) 284 \| ANGPT1 \| 1.538 \| DISEASES 337 \| APOA4 \| 1.322 \| DISEASES 136371 \| ASB10 \| 2.765 \| DISEASES 80184 \| CEP290 \| 1.427 \| DISEASES 1121 \| CHM \| 2.867 \| DISEASES 91851 \| CHRDL1 \| 2.567 \| DISEASES 1282 \| COL4A1 \| 1.26 \| DISEASES 1544 \| CYP1A2 \| 2.35 \| DISEASES 1573 \| CYP2J2 \| 1.802 \| DISEASES 1580 \| CYP4B1 \| 2.256 \| DISEASES 285440 \| CYP4V2 \| 1.522 \| DISEASES 1638 \| DCT \| 1.583 \| DISEASES 401124 \| DTHD1 \| 3.665 \| DISEASES 57634 \| EP400 \| 2.322 \| DISEASES 2200 \| FBN1 \| 2.115 \| DISEASES 79147 \| FKRP \| 1.392 \| DISEASES 2296 \| FOXC1 \| 5.403 \| DISEASES 2303 \| FOXC2 \| 1.277 \| DISEASES 2301 \| FOXE3 \| 3.203 \| DISEASES 26508 \| HEYL \| 1.796 \| DISEASES 3481 \| IGF2 \| 1.598 \| DISEASES 4010 \| LMX1B \| 1.397 \| DISEASES 4237 \| MFAP2 \| 2.369 \| DISEASES 4509 \| MT-ATP8 \| 1.99 \| DISEASES 4514 \| MT-CO3 \| 1.148 \| DISEASES 4536 \| MT-ND2 \| 1.41 \| DISEASES 10763 \| NES \| 1.143 \| DISEASES 4763 \| NF1 \| 2.028 \| DISEASES 26254 \| OPTC \| 2.473 \| DISEASES 5080 \| PAX6 \| 3.322 \| DISEASES 5170 \| PDPK1 \| 1.464 \| DISEASES 10585 \| POMT1 \| 1.711 \| DISEASES 5730 \| PTGDS \| 1.273 \| DISEASES 5787 \| PTPRB \| 2.002 \| DISEASES 293 \| SLC25A6 \| 2.118 \| DISEASES 6711 \| SPTBN1 \| 2.183 \| DISEASES 29110 \| TBK1 \| 1.184 \| DISEASES 7010 \| TEK \| 2.018 \| DISEASES 7075 \| TIE1 \| 1.439 \| DISEASES 7306 \| TYRP1 \| 1.863 \| DISEASES 134430 \| WDR36 \| 3.701 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1601
Disease	primary congenital glaucoma
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:10) HP:0000618 \| Blindness \| 1 HP:0012230 \| Rhegmatogenous retinal detachment \| 1 HP:0009916 \| Asymmetric pupil sizes \| 1 HP:0001123 \| Partial loss of field of vision \| 1 HP:0001083 \| Dislocated lenses \| 1 HP:0000646 \| Wandering eyes \| 1 HP:0007700 \| Anterior segment dysgenesis \| 1 HP:0000510 \| Retinitis pigmentosa \| 1 HP:0001067 \| Neurofibromas \| 1 HP:0000541 \| Detached retina \| 1

Disease ID	1601
Disease	primary congenital glaucoma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:2) C1963229 \| retinal detachment C0595921 \| intraocular pressure
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0021888 \| intraocular pressure \| 3 C0035305 \| retinal detachment \| 1

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

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

All Snps(Total Genotypes:8)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1042713	13680034	154	ADRB2	umls:C1533041	BeFree	These results suggest no evidence of an association between the Arg16Gly, Glu27Gln and Thr164Ile polymorphisms of the B2AR gene and risk of developing primary open angle glaucoma or primary congenital glaucoma.	0.000271442	2003	ADRB2	5	148826877	G	A
rs1042714	13680034	154	ADRB2	umls:C1533041	BeFree	These results suggest no evidence of an association between the Arg16Gly, Glu27Gln and Thr164Ile polymorphisms of the B2AR gene and risk of developing primary open angle glaucoma or primary congenital glaucoma.	0.000271442	2003	ADRB2	5	148826910	G	C,T
rs1800888	13680034	154	ADRB2	umls:C1533041	BeFree	These results suggest no evidence of an association between the Arg16Gly, Glu27Gln and Thr164Ile polymorphisms of the B2AR gene and risk of developing primary open angle glaucoma or primary congenital glaucoma.	0.000271442	2003	ADRB2	5	148827322	C	T
rs201181935	20151268	1545	CYP1B1	umls:C1533041	BeFree	Mutational screening and sequence analyses of the CYP1B1 gene revealed four mutations in four patients with PCG: p.Asp192Val, c.4776insAT, p.Val364Met, and p.Asp430Glu.	0.025168149	2010	CYP1B1	2	38071064	G	C
rs56175199	15723004	1545	CYP1B1	umls:C1533041	BeFree	One each of POAG and PCG patients was detected to be heterozygous for CYP1B1 mutation (c.1656C>T, Pro437Leu) and (c.1449G>A, Arg368His), respectively.	0.025168149	2005	CYP1B1	2	38071044	G	A,T
rs72549379	20151268	1545	CYP1B1	umls:C1533041	BeFree	Mutational screening and sequence analyses of the CYP1B1 gene revealed four mutations in four patients with PCG: p.Asp192Val, c.4776insAT, p.Val364Met, and p.Asp430Glu.	0.025168149	2010	CYP1B1	2	38071264	C	T
rs79204362	15723004	1545	CYP1B1	umls:C1533041	BeFree	One each of POAG and PCG patients was detected to be heterozygous for CYP1B1 mutation (c.1656C>T, Pro437Leu) and (c.1449G>A, Arg368His), respectively.	0.025168149	2005	CYP1B1	2	38071251	C	T
rs79204362	14507861	1545	CYP1B1	umls:C1533041	BeFree	Identification of R368H as a predominant CYP1B1 allele causing primary congenital glaucoma in Indian patients.	0.025168149	2003	CYP1B1	2	38071251	C	T

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

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

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	1601
Disease	primary congenital glaucoma
Case	(Waiting for update.)

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