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	schnyder corneal dystrophy

Disease ID	1330
Disease	schnyder corneal dystrophy
Synonym	corneal dystrophy crystalline of schnyder corneal dystrophy, crystalline, of schnyder corneal dystrophy, schnyder crystalline corneal dystrophy crystalline corneal dystrophy (disorder) sccd schnyder crystalline cornea dystrophy schnyder crystalline cornea dystrophy (disorder) schnyder crystalline corneal dystrophy schnyder crystalline corneal dystrophy (disorder) schnyder's crystalline corneal dystrophy
Orphanet	ORPHANET:98967
OMIM	OMIM:121800
DOID	DOID:0060456
UMLS	C0271287
SNOMED-CT	SNOMEDCT_US_2016_09_01:39662004;SNOMEDCT_US_2016_09_01:419395007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:1) C0235270 \| keratopathy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 29914 \| UBIAD1 \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:39) 6833 \| ABCC8 \| 1.179 \| DISEASES 10218 \| ANGPTL7 \| 3.279 \| DISEASES 8289 \| ARID1A \| 1.739 \| DISEASES 491 \| ATP2B2 \| 2.966 \| DISEASES 493 \| ATP2B4 \| 3.872 \| DISEASES 22883 \| CLSTN1 \| 3.632 \| DISEASES 1325 \| CORT \| 2.01 \| DISEASES 56998 \| CTNNBIP1 \| 3.576 \| DISEASES 285440 \| CYP4V2 \| 2.237 \| DISEASES 1676 \| DFFA \| 2.109 \| DISEASES 54826 \| GIN1 \| 3.267 \| DISEASES 80045 \| GPR157 \| 5.16 \| DISEASES 9563 \| H6PD \| 2.564 \| DISEASES 3702 \| ITK \| 2.044 \| DISEASES 3758 \| KCNJ1 \| 2.056 \| DISEASES 3766 \| KCNJ10 \| 2.072 \| DISEASES 3768 \| KCNJ12 \| 3.189 \| DISEASES 3770 \| KCNJ14 \| 3.89 \| DISEASES 3772 \| KCNJ15 \| 3.578 \| DISEASES 3762 \| KCNJ5 \| 2.024 \| DISEASES 3765 \| KCNJ9 \| 3.677 \| DISEASES 5650 \| KLK7 \| 2.312 \| DISEASES 84328 \| LZIC \| 4.287 \| DISEASES 4157 \| MC1R \| 1.712 \| DISEASES 23327 \| NEDD4L \| 2.275 \| DISEASES 4306 \| NR3C2 \| 1.249 \| DISEASES 8650 \| NUMB \| 3.051 \| DISEASES 795 \| S100G \| 3.715 \| DISEASES 6446 \| SGK1 \| 1.759 \| DISEASES 6557 \| SLC12A1 \| 2.012 \| DISEASES 6560 \| SLC12A4 \| 3.486 \| DISEASES 57468 \| SLC12A5 \| 2.281 \| DISEASES 9990 \| SLC12A6 \| 2.836 \| DISEASES 6546 \| SLC8A1 \| 3.498 \| DISEASES 6547 \| SLC8A3 \| 4.041 \| DISEASES 6646 \| SOAT1 \| 2.647 \| DISEASES 7045 \| TGFBI \| 2.771 \| DISEASES 55503 \| TRPV6 \| 3.25 \| DISEASES 29914 \| UBIAD1 \| 7.209 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) UBIAD1 \| 1p36.22

Disease ID	1330
Disease	schnyder corneal dystrophy
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:2) HP:0001131 \| Corneal dystrophy HP:0007760 \| Crystalline corneal dystrophy
Text Mined Phenotype	(Waiting for update.)

Disease ID	1330
Disease	schnyder corneal dystrophy
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:12)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs118203945	NA	29914	UBIAD1	umls:C0271287	CLINVAR	NA	0.482985861	NA	UBIAD1	1	11273836	A	G
rs118203946	NA	29914	UBIAD1	umls:C0271287	CLINVAR	NA	0.482985861	NA	UBIAD1	1	11274060	G	C
rs118203947	NA	29914	UBIAD1	umls:C0271287	CLINVAR	NA	0.482985861	NA	UBIAD1	1	11273886	A	G
rs118203948	NA	29914	UBIAD1	umls:C0271287	CLINVAR	NA	0.482985861	NA	UBIAD1	1	11274055	C	T
rs118203949	NA	29914	UBIAD1	umls:C0271287	CLINVAR	NA	0.482985861	NA	UBIAD1	1	11285809	A	G
rs118203950	NA	29914	UBIAD1	umls:C0271287	CLINVAR	NA	0.482985861	NA	UBIAD1	1	11273866	A	G
rs118203951	NA	29914	UBIAD1	umls:C0271287	CLINVAR	NA	0.482985861	NA	UBIAD1	1	11274042	T	C
rs118203951	19429578	29914	UBIAD1	umls:C0271287	BeFree	Surgical management and genetic analysis of a Chinese family with the S171P mutation in the UBIAD1 gene, the gene for Schnyder corneal dystrophy.	0.482985861	2009	UBIAD1	1	11274042	T	C
rs118203952	NA	29914	UBIAD1	umls:C0271287	CLINVAR	NA	0.482985861	NA	UBIAD1	1	11285670	G	A
rs118203953	NA	29914	UBIAD1	umls:C0271287	CLINVAR	NA	0.482985861	NA	UBIAD1	1	11285822	C	G
rs371811409	20489584	29914	UBIAD1	umls:C0271287	BeFree	Newly reported p.Asp240Asn mutation in UBIAD1 suggests central discoid corneal dystrophy is a variant of Schnyder corneal dystrophy.	0.482985861	2010	UBIAD1	1	11285832	G	A
rs397514669	NA	29914	UBIAD1	umls:C0271287	CLINVAR	NA	0.482985861	NA	UBIAD1	1	11285644	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:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:2)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0007760	Crystalline corneal dystrophy	MP:0011092	embryonic lethality, complete penetrance	death of all organisms of a given genotype in a population within the embryonic period prior to organogenesis (Mus: prior to E14)
HP:0001131	Corneal dystrophy	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells

Disease ID	1330
Disease	schnyder corneal dystrophy
Case	(Waiting for update.)

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