PedAM

Pediatric Disease Annotations & Medicines


	urofacial syndrome 1

Disease ID	1635
Disease	urofacial syndrome 1
Synonym	facial palsy, partial, with urinary abnormalities hydronephrosis with peculiar facial expression hydronephrosis-inverted smile inverted smile and occult neuropathic bladder inverted smile-neurogenic bladder ochoa syndrome ochoa syndrome (disorder) partial facial palsy with urinary abnormalities ufs ufs1 urofacial ochoa's syndrome urofacial syndrome
Orphanet	ORPHANET:2704
OMIM	OMIM:236730
DOID	DOID:0050816
UMLS	C0403555
SNOMED-CT	SNOMEDCT_US_2016_09_01:236533008
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) LRIG2 \| 9860 \| ORPHANET HPSE2 \| 60495 \| CLINVAR;CTD_human;ORPHANET;GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:11) 59 \| ACTA2 \| DISEASES 1131 \| CHRM3 \| DISEASES 8626 \| TP63 \| DISEASES 10855 \| HPSE \| DISEASES 875 \| CBS \| DISEASES 1785 \| DNM2 \| DISEASES 26507 \| CNNM1 \| DISEASES 9860 \| LRIG2 \| DISEASES 54805 \| CNNM2 \| DISEASES 60495 \| HPSE2 \| DISEASES 26504 \| CNNM4 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1635
Disease	urofacial syndrome 1
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:9) HP:0000126 \| Hydronephrosis HP:0000805 \| Enuresis HP:0002019 \| Dyschezia HP:0000072 \| Megaureter HP:0000028 \| Cryptorchidism HP:0010481 \| Urethral valve HP:0005346 \| Abnormal facial expression HP:0001999 \| Facial dysmorphism HP:0000010 \| Frequent urinary tract infections
Text Mined Phenotype	(Waiting for update.)

Disease ID	1635
Disease	urofacial syndrome 1
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:5)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs267606864	NA	60495	HPSE2	umls:C0403555	CLINVAR	NA	0.441900093	NA	HPSE2	10	98490103	G	C,A
rs267606865	NA	60495	HPSE2	umls:C0403555	CLINVAR	NA	0.441900093	NA	HPSE2	10	99144391	G	A
rs267606866	NA	60495	HPSE2	umls:C0403555	CLINVAR	NA	0.441900093	NA	HPSE2	10	98482733	G	A
rs397515338	NA	60495	HPSE2	umls:C0403555	CLINVAR	NA	0.441900093	NA	HPSE2	10	98490051	TT	-
rs397515452	NA	60495	HPSE2	umls:C0403555	CLINVAR	NA	0.441900093	NA	HPSE2	10	98459725	T	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:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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