PedAM

Pediatric Disease Annotations & Medicines


	idiopathic hypercalciuria

Disease ID	1142
Disease	idiopathic hypercalciuria
Orphanet	ORPHANET:2197
UMLS	C0543800
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0085113 \| neurofibromatosis \| 1 C0392525 \| nephrolithiasis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) ADCY10 \| 55811 \| ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	(Waiting for update.)
Locus	Symbol \| Locus(Total Locus:1) ADCY10 \| 1q24.2

Disease ID	1142
Disease	idiopathic hypercalciuria
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:7) HP:0008672 \| Calcium oxalate nephrolithiasis HP:0003529 \| Parathormone-independent increased renal tubular calcium reabsorption HP:0000939 \| Osteoporosis HP:0002150 \| Hypercalciuria HP:0040077 \| Abnormal concentration of calcium in blood HP:0012637 \| Renal calcium wasting HP:0000938 \| Osteopenia
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:8) HP:0000010 \| Frequent urinary tract infections \| 4 HP:0002027 \| Abdominal pain \| 1 HP:0000805 \| Enuresis \| 1 HP:0000787 \| Renal calculi \| 1 HP:0001067 \| Neurofibromas \| 1 HP:0012531 \| Pain \| 1 HP:0000107 \| Renal cyst \| 1 HP:0000076 \| Vesicoureteric reflux \| 1

Disease ID	1142
Disease	idiopathic hypercalciuria
Manually Symptom	UMLS \| Name(Total Manually Symptoms:10) C2712331 \| urinary incontinence C1963138 \| hypertension C0451641 \| urolithiasis C0392525 \| renal lithiasis C0392525 \| nephrolithiasis C0042029 \| urinary tract infection C0027709 \| nephrocalcinosis C0020503 \| secondary hyperparathyroidism C0020502 \| hyperparathyroidism C0005940 \| bone disease
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0042029 \| urinary tract infection \| 4 C0392525 \| nephrolithiasis \| 1

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

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1042636	12239240	846	CASR	umls:C0543800	BeFree	Arg990Gly polymorphism could facilitate activation of CaSR and increase Ca excretion and susceptibility to idiopathic hypercalciuria.	0.001085767	2002	CASR	3	122284922	A	G

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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