PedAM

Pediatric Disease Annotations & Medicines


	parathyroid gland disease

Disease ID	1924
Disease	parathyroid gland disease
Definition	Pathological processes of the PARATHYROID GLANDS. They usually manifest as hypersecretion or hyposecretion of PARATHYROID HORMONE that regulates the balance of CALCIUM; PHOSPHORUS; and MAGNESIUM in the body.
Synonym	disease of parathyroid glands disease of parathyroid glands (disorder) disease of parathyroid glands, nos disease, parathyroid diseases, parathyroid disorder of parathyroid gland disorder of parathyroid gland (disorder) disorder of parathyroid glands disorder of parathyroid glands, nos disorder parathyroid disorder parathyroid gland disorder, parathyroid disorders glands parathyroid disorders of parathyroid gland disorders parathyroid disorders, parathyroid dysfunction parathyroid parathyoid disorder parathyroid parathyroid dis parathyroid disease parathyroid diseases parathyroid diseases [disease/finding] parathyroid disorder parathyroid disorder nos parathyroid disorder nos (disorder) parathyroid disorders parathyroid dysfunction parathyroid dysfunctiuon parathyroid gland diseases parathyroid gland disorder parathyroid gland disorders parathyroid glands--diseases unspecified disorder of parathyroid gland
DOID	DOID:11201
UMLS	C0030517
MeSH	D010279
SNOMED-CT	SNOMEDCT_US_2016_09_01:73132005
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:202) 2767 \| GNA11 \| DISEASES 5837 \| PYGM \| DISEASES 6343 \| SCT \| DISEASES 124 \| ADH1A \| DISEASES 1113 \| CHGA \| DISEASES 1591 \| CYP24A1 \| DISEASES 479 \| ATP12A \| DISEASES 54 \| ACP5 \| DISEASES 26063 \| DECR2 \| DISEASES 7038 \| TG \| DISEASES 54623 \| PAF1 \| DISEASES 5539 \| PPY \| DISEASES 595 \| CCND1 \| DISEASES 1594 \| CYP27B1 \| DISEASES 1027 \| CDKN1B \| DISEASES 4256 \| MGP \| DISEASES 6678 \| SPARC \| DISEASES 2691 \| GHRH \| DISEASES 8074 \| FGF23 \| DISEASES 5507 \| PPP1R3C \| DISEASES 8600 \| TNFSF11 \| DISEASES 2703 \| GJA8 \| DISEASES 6903 \| TBCC \| DISEASES 29085 \| PHPT1 \| DISEASES 3630 \| INS \| DISEASES 2056 \| EPO \| DISEASES 3727 \| JUND \| DISEASES 10343 \| PKDREJ \| DISEASES 50617 \| ATP6V0A4 \| DISEASES 8431 \| NR0B2 \| DISEASES 1401 \| CRP \| DISEASES 64328 \| XPO4 \| DISEASES 759 \| CA1 \| DISEASES 2012 \| EMP1 \| DISEASES 1593 \| CYP27A1 \| DISEASES 29079 \| MED4 \| DISEASES 3569 \| IL6 \| DISEASES 26525 \| IL36RN \| DISEASES 570 \| BAAT \| DISEASES 84681 \| HINT2 \| DISEASES 29113 \| C6orf15 \| DISEASES 11270 \| NRM \| DISEASES 490 \| ATP2B1 \| DISEASES 2201 \| FBN2 \| DISEASES 495 \| ATP4A \| DISEASES 25939 \| SAMHD1 \| DISEASES 8455 \| ATRN \| DISEASES 23523 \| CABIN1 \| DISEASES 9993 \| DGCR2 \| DISEASES 1175 \| AP2S1 \| DISEASES 23476 \| BRD4 \| DISEASES 4036 \| LRP2 \| DISEASES 3938 \| LCT \| DISEASES 2247 \| FGF2 \| DISEASES 5443 \| POMC \| DISEASES 10686 \| CLDN16 \| DISEASES 56302 \| TRPV5 \| DISEASES 80349 \| WDR61 \| DISEASES 3487 \| IGFBP4 \| DISEASES 113091 \| PTH2 \| DISEASES 5972 \| REN \| DISEASES 805 \| CALM2 \| DISEASES 5746 \| PTH2R \| DISEASES 9180 \| OSMR \| DISEASES 7552 \| ZNF711 \| DISEASES 4851 \| NOTCH1 \| DISEASES 57689 \| LRRC4C \| DISEASES 5741 \| PTH \| DISEASES 56172 \| ANKH \| DISEASES 5018 \| OXA1L \| DISEASES 6750 \| SST \| DISEASES 4681 \| NBL1 \| DISEASES 1636 \| ACE \| DISEASES 808 \| CALM3 \| DISEASES 5822 \| PWP2 \| DISEASES 326 \| AIRE \| DISEASES 4041 \| LRP5 \| DISEASES 213 \| ALB \| DISEASES 54502 \| RBM47 \| DISEASES 327 \| APEH \| DISEASES 6690 \| SPINK1 \| DISEASES 4982 \| TNFRSF11B \| DISEASES 79158 \| GNPTAB \| DISEASES 9640 \| ZNF592 \| DISEASES 50964 \| SOST \| DISEASES 5617 \| PRL \| DISEASES 189 \| AGXT \| DISEASES 3479 \| IGF1 \| DISEASES 7200 \| TRH \| DISEASES 4330 \| MN1 \| DISEASES 79660 \| PPP1R3B \| DISEASES 763 \| CA5A \| DISEASES 26512 \| INTS6 \| DISEASES 54221 \| SNTG2 \| DISEASES 3952 \| LEP \| DISEASES 3184 \| HNRNPD \| DISEASES 3090 \| HIC1 \| DISEASES 7173 \| TPO \| DISEASES 23200 \| ATP11B \| DISEASES 6569 \| SLC34A1 \| DISEASES 5745 \| PTH1R \| DISEASES 85302 \| FBF1 \| DISEASES 84260 \| TCHP \| DISEASES 22820 \| COPG1 \| DISEASES 3032 \| HADHB \| DISEASES 9735 \| KNTC1 \| DISEASES 2520 \| GAST \| DISEASES 796 \| CALCA \| DISEASES 6899 \| TBX1 \| DISEASES 286410 \| ATP11C \| DISEASES 3043 \| HBB \| DISEASES 120227 \| CYP2R1 \| DISEASES 4221 \| MEN1 \| DISEASES 23583 \| SMUG1 \| DISEASES 23562 \| CLDN14 \| DISEASES 8805 \| TRIM24 \| DISEASES 4306 \| NR3C2 \| DISEASES 1499 \| CTNNB1 \| DISEASES 7549 \| ZNF2 \| DISEASES 5979 \| RET \| DISEASES 10656 \| KHDRBS3 \| DISEASES 5789 \| PTPRD \| DISEASES 170685 \| NUDT10 \| DISEASES 801 \| CALM1 \| DISEASES 344892 \| RTP2 \| DISEASES 4763 \| NF1 \| DISEASES 5573 \| PRKAR1A \| DISEASES 55503 \| TRPV6 \| DISEASES 387129 \| NPSR1 \| DISEASES 149371 \| EXOC8 \| DISEASES 140803 \| TRPM6 \| DISEASES 63901 \| FAM111A \| DISEASES 142680 \| SLC34A3 \| DISEASES 6905 \| TBCE \| DISEASES 8707 \| B3GALT2 \| DISEASES 79577 \| CDC73 \| DISEASES 55811 \| ADCY10 \| DISEASES 6391 \| SDHC \| DISEASES 6708 \| SPTA1 \| DISEASES 632 \| BGLAP \| DISEASES 51205 \| ACP6 \| DISEASES 27246 \| RNF115 \| DISEASES 1806 \| DPYD \| DISEASES 1810 \| DR1 \| DISEASES 6658 \| SOX3 \| DISEASES 55118 \| CRTAC1 \| DISEASES 2258 \| FGF13 \| DISEASES 2778 \| GNAS \| DISEASES 8675 \| STX16 \| DISEASES 25973 \| PARS2 \| DISEASES 860 \| RUNX2 \| DISEASES 310 \| ANXA7 \| DISEASES 22943 \| DKK1 \| DISEASES 54836 \| BSPRY \| DISEASES 249 \| ALPL \| DISEASES 63940 \| GPSM3 \| DISEASES 6390 \| SDHB \| DISEASES 6392 \| SDHD \| DISEASES 2159 \| F10 \| DISEASES 3055 \| HCK \| DISEASES 3274 \| HRH2 \| DISEASES 2625 \| GATA3 \| DISEASES 5251 \| PHEX \| DISEASES 9247 \| GCM2 \| DISEASES 51334 \| PRR16 \| DISEASES 79625 \| NDNF \| DISEASES 9365 \| KL \| DISEASES 795 \| S100G \| DISEASES 551 \| AVP \| DISEASES 6902 \| TBCA \| DISEASES 833 \| CARS \| DISEASES 3486 \| IGFBP3 \| DISEASES 2618 \| GART \| DISEASES 238 \| ALK \| DISEASES 126206 \| NLRP5 \| DISEASES 2591 \| GALNT3 \| DISEASES 51651 \| PTRH2 \| DISEASES 6152 \| RPL24 \| DISEASES 6696 \| SPP1 \| DISEASES 655 \| BMP7 \| DISEASES 5744 \| PTHLH \| DISEASES 5075 \| PAX1 \| DISEASES 7018 \| TF \| DISEASES 10636 \| RGS14 \| DISEASES 2641 \| GCG \| DISEASES 3481 \| IGF2 \| DISEASES 2260 \| FGFR1 \| DISEASES 197 \| AHSG \| DISEASES 7124 \| TNF \| DISEASES 6559 \| SLC12A3 \| DISEASES 162466 \| PHOSPHO1 \| DISEASES 57862 \| ZNF410 \| DISEASES 846 \| CASR \| DISEASES 2638 \| GC \| DISEASES 23263 \| MCF2L \| DISEASES 55922 \| NKRF \| DISEASES 7421 \| VDR \| DISEASES 8972 \| MGAM \| DISEASES 8825 \| LIN7A \| DISEASES 567 \| B2M \| DISEASES 102723508 \| KANTR \| DISEASES 103164619 \| PCAT2 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1924
Disease	parathyroid gland disease
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	(Waiting for update.)

Disease ID	1924
Disease	parathyroid gland disease
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:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs75076352	9820617	5979	RET	umls:C0030517	BeFree	These data show a low frequency of hyperparathyroidism in our cases and provide further evidence that individuals with C634R as well as with C634Y mutations of the RET proto-oncogene could be at risk for parathyroid disease.	0.000542884	1998	RET	10	43114500	T	A,C,G
rs75996173	9820617	5979	RET	umls:C0030517	BeFree	These data show a low frequency of hyperparathyroidism in our cases and provide further evidence that individuals with C634R as well as with C634Y mutations of the RET proto-oncogene could be at risk for parathyroid disease.	0.000542884	1998	RET	10	43114501	G	A,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.)

Chemical(Total Drugs:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0030517	calcitriol	D002117	32222-06-3	parathyroid diseases	MESH:D010279	marker/mechanism	1453499

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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