PedAM

Pediatric Disease Annotations & Medicines


	goiter

Disease ID	680
Disease	goiter
Definition	Enlargement of the THYROID GLAND that may increase from about 20 grams to hundreds of grams in human adults. Goiter is observed in individuals with normal thyroid function (euthyroidism), thyroid deficiency (HYPOTHYROIDISM), or hormone overproduction (HYPERTHYROIDISM). Goiter may be congenital or acquired, sporadic or endemic (GOITER, ENDEMIC).
Synonym	enlarged thyroid enlarged thyroid gland enlargement of thyroid goiter (disorder) goiter (excl t85 t86) goiter (excluding t85 t86) goiter [disease/finding] goiter nos goiter nos (disorder) goiter thyroid goiter, nos goiter, unspecified goiters goitre goitre (disorder) goitre nos goitre, nos goitres struma struma - goiter struma - goitre struma of thyroid swelling of thyroid gland swelling thyroid gland thyroid enlarged thyroid enlargement thyroid gland swelling thyroid goiter thyroid goitre thyromegaly
DOID	DOID:12176
UMLS	C0018021
MeSH	D006042
SNOMED-CT	SNOMEDCT_US_2016_09_01:3716002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:77) C0020676 \| hypothyroidism \| 16 C0020550 \| hyperthyroidism \| 16 C0007115 \| thyroid ca \| 10 C0040147 \| thyroiditis \| 7 C0018213 \| graves' disease \| 6 C0010308 \| congenital hypothyroidism \| 6 C0007115 \| thyroid cancer \| 5 C0001430 \| adenoma \| 5 C0549473 \| thyroid carcinoma \| 5 C0040137 \| thyroid nodule \| 4 C0677607 \| hashimoto's thyroiditis \| 4 C0342199 \| iodine deficiency \| 4 C0262587 \| parathyroid adenoma \| 3 C0238463 \| papillary thyroid carcinoma \| 3 C0151468 \| thyroid adenoma \| 3 C0015300 \| exophthalmos \| 3 C0745140 \| hyperthyroid \| 3 C0040156 \| thyrotoxicosis \| 2 C0007133 \| papillary carcinoma \| 2 C1145670 \| respiratory failure \| 2 C0040137 \| thyroid nodules \| 2 C0040128 \| thyroid disease \| 2 C0018213 \| graves disease \| 2 C0018784 \| sensorineural hearing loss \| 2 C0010346 \| crohn's disease \| 2 C0154143 \| toxic multinodular goiter \| 2 C0271829 \| pendred syndrome \| 2 C0002871 \| anemia \| 1 C0339143 \| thyroid associated ophthalmopathy \| 1 C0028756 \| morbid obesity \| 1 C0040128 \| thyroid disorders \| 1 C0040149 \| subacute thyroiditis \| 1 C0021390 \| inflammatory bowel diseases \| 1 C0023601 \| leydig cell tumor \| 1 C0221002 \| primary hyperparathyroidism \| 1 C0018021 \| thyroid enlargement \| 1 C0019196 \| hepatitis c \| 1 C0010068 \| coronary artery disease \| 1 C0206723 \| sertoli-leydig cell tumor \| 1 C0020551 \| hyperthyroxinemia \| 1 C0442874 \| neuropathy \| 1 C0018784 \| sensory-neural deafness \| 1 C0003873 \| rheumatoid arthritis \| 1 C0001206 \| acromegaly \| 1 C0157741 \| idiopathic urticaria \| 1 C0039538 \| teratoma \| 1 C0026618 \| dental fluorosis \| 1 C0040128 \| thyroid diseases \| 1 C0010674 \| cystic fibrosis \| 1 C0238462 \| medullary thyroid carcinoma \| 1 C0022661 \| end-stage renal disease \| 1 C0019158 \| hepatitis \| 1 C0238461 \| undifferentiated thyroid carcinoma \| 1 C0023976 \| long qt syndrome \| 1 C0021390 \| inflammatory bowel disease \| 1 C0238463 \| thyroid papillary carcinoma \| 1 C0015397 \| eye disease \| 1 C0677607 \| hashimoto thyroiditis \| 1 C0002726 \| amyloidosis \| 1 C0018799 \| heart disease \| 1 C0238463 \| papillary thyroid cancer \| 1 C0242343 \| panhypopituitarism \| 1 C0271829 \| pendred's syndrome \| 1 C0151313 \| sensory neuropathy \| 1 C0948187 \| tracheomalacia \| 1 C0006145 \| breast disease \| 1 C0677607 \| hashimoto's disease \| 1 C0022658 \| renal disease \| 1 C0026848 \| myopathy \| 1 C0206682 \| follicular carcinoma \| 1 C0026896 \| myasthenia gravis \| 1 C0206723 \| sertoli-leydig cell tumors \| 1 C0021831 \| bowel disease \| 1 C0155550 \| neural deafness \| 1 C0155264 \| endocrine orbitopathy \| 1 C0028754 \| obesity \| 1 C0042109 \| urticaria \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) TG \| 7038 \| CTD_human SLC26A4 \| 5172 \| CTD_human CLCN5 \| 1184 \| CTD_human TPO \| 7173 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 832 \| CAPZB \| infer 2252 \| FGF7 \| infer 4094 \| MAF \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:248) 54814 \| QPCTL \| DISEASES 7145 \| TNS1 \| DISEASES 6561 \| SLC13A1 \| DISEASES 27102 \| EIF2AK1 \| DISEASES 84844 \| PHF5A \| DISEASES 1113 \| CHGA \| DISEASES 51285 \| RASL12 \| DISEASES 7038 \| TG \| DISEASES 7040 \| TGFB1 \| DISEASES 973 \| CD79A \| DISEASES 1048 \| CEACAM5 \| DISEASES 6528 \| SLC5A5 \| DISEASES 3558 \| IL2 \| DISEASES 595 \| CCND1 \| DISEASES 3458 \| IFNG \| DISEASES 2597 \| GAPDH \| DISEASES 2026 \| ENO2 \| DISEASES 389434 \| IYD \| DISEASES 50805 \| IRX4 \| DISEASES 3565 \| IL4 \| DISEASES 7276 \| TTR \| DISEASES 134637 \| ADAT2 \| DISEASES 27230 \| SERP1 \| DISEASES 57616 \| TSHZ3 \| DISEASES 7374 \| UNG \| DISEASES 6431 \| SRSF6 \| DISEASES 8744 \| TNFSF9 \| DISEASES 3630 \| INS \| DISEASES 85415 \| RHPN2 \| DISEASES 3958 \| LGALS3 \| DISEASES 1401 \| CRP \| DISEASES 7252 \| TSHB \| DISEASES 4677 \| NARS \| DISEASES 2694 \| GIF \| DISEASES 55213 \| RCBTB1 \| DISEASES 3569 \| IL6 \| DISEASES 5168 \| ENPP2 \| DISEASES 84681 \| HINT2 \| DISEASES 29113 \| C6orf15 \| DISEASES 4069 \| LYZ \| DISEASES 10021 \| HCN4 \| DISEASES 4591 \| TRIM37 \| DISEASES 6132 \| RPL8 \| DISEASES 3959 \| LGALS3BP \| DISEASES 25939 \| SAMHD1 \| DISEASES 6855 \| SYP \| DISEASES 55686 \| MREG \| DISEASES 3552 \| IL1A \| DISEASES 3553 \| IL1B \| DISEASES 54414 \| SIAE \| DISEASES 5775 \| PTPN4 \| DISEASES 4036 \| LRP2 \| DISEASES 60482 \| SLC5A7 \| DISEASES 84273 \| NOA1 \| DISEASES 941 \| CD80 \| DISEASES 2247 \| FGF2 \| DISEASES 7067 \| THRA \| DISEASES 5443 \| POMC \| DISEASES 3383 \| ICAM1 \| DISEASES 6389 \| SDHA \| DISEASES 80273 \| GRPEL1 \| DISEASES 1950 \| EGF \| DISEASES 25824 \| PRDX5 \| DISEASES 5172 \| SLC26A4 \| DISEASES 90527 \| DUOXA1 \| DISEASES 100820829 \| MYZAP \| DISEASES 7157 \| TP53 \| DISEASES 11006 \| LILRB4 \| DISEASES 100996939 \| PYURF \| DISEASES 6567 \| SLC16A2 \| DISEASES 8795 \| TNFRSF10B \| DISEASES 3439 \| IFNA1 \| DISEASES 4851 \| NOTCH1 \| DISEASES 4863 \| NPAT \| DISEASES 7424 \| VEGFC \| DISEASES 23704 \| KCNE4 \| DISEASES 5741 \| PTH \| DISEASES 2321 \| FLT1 \| DISEASES 11228 \| RASSF8 \| DISEASES 9601 \| PDIA4 \| DISEASES 1836 \| SLC26A2 \| DISEASES 6750 \| SST \| DISEASES 90737 \| PAGE5 \| DISEASES 539 \| ATP5O \| DISEASES 9992 \| KCNE2 \| DISEASES 54102 \| CLIC6 \| DISEASES 55687 \| TRMU \| DISEASES 2063 \| NR2F6 \| DISEASES 8209 \| C21orf33 \| DISEASES 2215 \| FCGR3B \| DISEASES 213 \| ALB \| DISEASES 7253 \| TSHR \| DISEASES 122042 \| RXFP2 \| DISEASES 6236 \| RRAD \| DISEASES 7184 \| HSP90B1 \| DISEASES 8581 \| LY6D \| DISEASES 23524 \| SRRM2 \| DISEASES 5617 \| PRL \| DISEASES 3479 \| IGF1 \| DISEASES 43 \| ACHE \| DISEASES 7200 \| TRH \| DISEASES 1493 \| CTLA4 \| DISEASES 2299 \| FOXI1 \| DISEASES 260425 \| MAGI3 \| DISEASES 79192 \| IRX1 \| DISEASES 3627 \| CXCL10 \| DISEASES 2353 \| FOS \| DISEASES 147 \| ADRA1B \| DISEASES 27087 \| B3GAT1 \| DISEASES 170261 \| ZCCHC12 \| DISEASES 3265 \| HRAS \| DISEASES 947 \| CD34 \| DISEASES 5763 \| PTMS \| DISEASES 5626 \| PROP1 \| DISEASES 80227 \| PAAF1 \| DISEASES 10007 \| GNPDA1 \| DISEASES 79850 \| FAM57A \| DISEASES 8832 \| CD84 \| DISEASES 57633 \| LRRN1 \| DISEASES 53905 \| DUOX1 \| DISEASES 4684 \| NCAM1 \| DISEASES 7173 \| TPO \| DISEASES 405753 \| DUOXA2 \| DISEASES 56892 \| C8orf4 \| DISEASES 81533 \| ITFG1 \| DISEASES 2193 \| FARSA \| DISEASES 3640 \| INSL3 \| DISEASES 3039 \| HBA1 \| DISEASES 2274 \| FHL2 \| DISEASES 91012 \| CERS5 \| DISEASES 5366 \| PMAIP1 \| DISEASES 353500 \| BMP8A \| DISEASES 5034 \| P4HB \| DISEASES 333929 \| SNAI3 \| DISEASES 8303 \| SNN \| DISEASES 6906 \| SERPINA7 \| DISEASES 5136 \| PDE1A \| DISEASES 796 \| CALCA \| DISEASES 5727 \| PTCH1 \| DISEASES 51738 \| GHRL \| DISEASES 135 \| ADORA2A \| DISEASES 4221 \| MEN1 \| DISEASES 57104 \| PNPLA2 \| DISEASES 84186 \| ZCCHC7 \| DISEASES 2246 \| FGF1 \| DISEASES 23583 \| SMUG1 \| DISEASES 6002 \| RGS12 \| DISEASES 166824 \| RASSF6 \| DISEASES 1508 \| CTSB \| DISEASES 132884 \| EVC2 \| DISEASES 7177 \| TPSAB1 \| DISEASES 23405 \| DICER1 \| DISEASES 2100 \| ESR2 \| DISEASES 8045 \| RASSF7 \| DISEASES 3767 \| KCNJ11 \| DISEASES 6050 \| RNH1 \| DISEASES 7080 \| NKX2-1 \| DISEASES 57522 \| SRGAP1 \| DISEASES 5979 \| RET \| DISEASES 355 \| FAS \| DISEASES 7068 \| THRB \| DISEASES 11186 \| RASSF1 \| DISEASES 6752 \| SSTR2 \| DISEASES 10004 \| NAALADL1 \| DISEASES 3135 \| HLA-G \| DISEASES 5646 \| PRSS3 \| DISEASES 1733 \| DIO1 \| DISEASES 3880 \| KRT19 \| DISEASES 7052 \| TGM2 \| DISEASES 6993 \| DYNLT1 \| DISEASES 254428 \| SLC41A1 \| DISEASES 26254 \| OPTC \| DISEASES 356 \| FASLG \| DISEASES 2214 \| FCGR3A \| DISEASES 3766 \| KCNJ10 \| DISEASES 632 \| BGLAP \| DISEASES 51175 \| TUBE1 \| DISEASES 284486 \| THEM5 \| DISEASES 7073 \| TIAL1 \| DISEASES 4354 \| MPP1 \| DISEASES 2316 \| FLNA \| DISEASES 2773 \| GNAI3 \| DISEASES 959 \| CD40LG \| DISEASES 55361 \| PI4K2A \| DISEASES 2778 \| GNAS \| DISEASES 27022 \| FOXD3 \| DISEASES 5728 \| PTEN \| DISEASES 7422 \| VEGFA \| DISEASES 958 \| CD40 \| DISEASES 6257 \| RXRB \| DISEASES 2304 \| FOXE1 \| DISEASES 549 \| AUH \| DISEASES 79048 \| SECISBP2 \| DISEASES 3055 \| HCK \| DISEASES 50943 \| FOXP3 \| DISEASES 3105 \| HLA-A \| DISEASES 8718 \| TNFRSF25 \| DISEASES 4609 \| MYC \| DISEASES 8573 \| CASK \| DISEASES 1906 \| EDN1 \| DISEASES 7010 \| TEK \| DISEASES 6462 \| SHBG \| DISEASES 689 \| BTF3 \| DISEASES 3486 \| IGFBP3 \| DISEASES 2576 \| GAGE4 \| DISEASES 2543 \| GAGE1 \| DISEASES 192668 \| CYS1 \| DISEASES 5618 \| PRLR \| DISEASES 2706 \| GJB2 \| DISEASES 2878 \| GPX3 \| DISEASES 50506 \| DUOX2 \| DISEASES 3703 \| STT3A \| DISEASES 6996 \| TDG \| DISEASES 78996 \| C7orf49 \| DISEASES 8301 \| PICALM \| DISEASES 162239 \| ZFP1 \| DISEASES 164 \| AP1G1 \| DISEASES 6152 \| RPL24 \| DISEASES 10265 \| IRX5 \| DISEASES 7920 \| ABHD16A \| DISEASES 116372 \| LYPD1 \| DISEASES 10587 \| TXNRD2 \| DISEASES 7018 \| TF \| DISEASES 2260 \| FGFR1 \| DISEASES 8031 \| NCOA4 \| DISEASES 7849 \| PAX8 \| DISEASES 57511 \| COG6 \| DISEASES 7124 \| TNF \| DISEASES 9278 \| ZBTB22 \| DISEASES 8801 \| SUCLG2 \| DISEASES 6256 \| RXRA \| DISEASES 8833 \| GMPS \| DISEASES 2317 \| FLNB \| DISEASES 256987 \| SERINC5 \| DISEASES 6949 \| TCOF1 \| DISEASES 51428 \| DDX41 \| DISEASES 6224 \| RPS20 \| DISEASES 2197 \| FAU \| DISEASES 930 \| CD19 \| DISEASES 160728 \| SLC5A8 \| DISEASES 8972 \| MGAM \| DISEASES 2972 \| BRF1 \| DISEASES 1734 \| DIO2 \| DISEASES 91750 \| LIN52 \| DISEASES 26766 \| RNU105C \| DISEASES 26812 \| SNORD37 \| DISEASES 26807 \| SNORD43 \| DISEASES 692076 \| SNORD7 \| DISEASES
Locus	(Waiting for update.)

Disease ID	680
Disease	goiter
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:59) HP:0000821 \| Underactive thyroid \| 16 HP:0000836 \| Overactive thyroid \| 16 HP:0100646 \| Thyroiditis \| 7 HP:0000851 \| Congenital hypothyroidism \| 6 HP:0030731 \| Carcinoma \| 6 HP:0000872 \| Hashimoto's thyroiditis \| 5 HP:0002890 \| Thyroid carcinoma \| 5 HP:0002895 \| Papillary thyroid carcinoma \| 4 HP:0002094 \| Dyspnea \| 3 HP:0008249 \| Large thyroid \| 3 HP:0000854 \| Thyroid adenoma \| 3 HP:0000520 \| Anterior bulging of the globe of eye \| 3 HP:0002897 \| Parathyroid adenoma \| 3 HP:0002716 \| Lymph node hyperplasia \| 2 HP:0000407 \| sensorineural hearing loss \| 2 HP:0000820 \| Thyroid abnormality \| 2 HP:0100647 \| Morbus Basedow \| 2 HP:0100280 \| Morbus Crohn \| 2 HP:0002878 \| Respiratory failure \| 2 HP:0003470 \| Inability to move \| 2 HP:0002781 \| Upper airway obstruction \| 2 HP:0000871 \| Panhypopituitarism \| 1 HP:0001370 \| Rheumatoid arthritis \| 1 HP:0003774 \| End-stage renal failure \| 1 HP:0001903 \| Anemia \| 1 HP:0001025 \| Hives \| 1 HP:0003198 \| Myopathic changes \| 1 HP:0002926 \| Abnormality of thyroid physiology \| 1 HP:0010310 \| Chylothorax \| 1 HP:0003473 \| Fatigable weakness \| 1 HP:0000845 \| Acromegalic growth \| 1 HP:0004936 \| Blood clot in vein \| 1 HP:0002664 \| Neoplasia \| 1 HP:0011769 \| Ectopic parathyroid \| 1 HP:0001649 \| Tachycardia \| 1 HP:0000365 \| Hearing impairment \| 1 HP:0001677 \| Coronary artery disease \| 1 HP:0008208 \| Parathyroid hyperplasia \| 1 HP:0012764 \| Orthopnea \| 1 HP:0002835 \| Aspiration \| 1 HP:0009792 \| Teratoma \| 1 HP:0012378 \| Fatigue \| 1 HP:0200123 \| Chronic liver inflammation \| 1 HP:0001605 \| Vocal cord paralysis \| 1 HP:0100528 \| Pleuropulmonary blastoma \| 1 HP:0002779 \| Tracheomalacia \| 1 HP:0001513 \| Obesity \| 1 HP:0004756 \| Ventricular tachycardia \| 1 HP:0002865 \| Medullary thyroid carcinoma \| 1 HP:0002901 \| Hypocalcemia \| 1 HP:0011034 \| Amyloid disease \| 1 HP:0002786 \| Tracheobronchomalacia \| 1 HP:0008200 \| Primary hyperparathyroidism \| 1 HP:0000763 \| Sensory neuropathy \| 1 HP:0100730 \| Bronchogenic cyst \| 1 HP:0100033 \| Tic disorder \| 1 HP:0001657 \| Prolonged QT interval \| 1 HP:0002105 \| Hemoptysis \| 1 HP:0012115 \| Liver inflammation \| 1

Disease ID	680
Disease	goiter
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:12) C0020550 \| hyperthyroidism \| 16 C0020676 \| hypothyroidism \| 16 C0007115 \| thyroid cancer \| 5 C0342199 \| iodine deficiency \| 4 C0001883 \| airway obstruction \| 3 C0015300 \| exophthalmos \| 3 C0740852 \| upper airway obstruction \| 2 C0264490 \| acute respiratory failure \| 1 C0085619 \| orthopnea \| 1 C0011053 \| deafness \| 1 C0221002 \| primary hyperparathyroidism \| 1 C0003873 \| rheumatoid arthritis \| 1

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

All Snps(Total Genotypes:9)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs10917468	21565293	832	CAPZB	umls:C0018021	GAD	[Genome-wide association study identifies four genetic loci associated with thyroid volume and goiter risk.]	0.002367032	2011	LOC105376817;LOC105376819	1	19516860	T	C
rs12045440	21565293	832	CAPZB	umls:C0018021	GAD	[Genome-wide association study identifies four genetic loci associated with thyroid volume and goiter risk.]	0.002367032	2011	CAPZB;LOC105378613	1	19439024	T	G
rs12138950	21565293	832	CAPZB	umls:C0018021	GAD	[Genome-wide association study identifies four genetic loci associated with thyroid volume and goiter risk.]	0.002367032	2011	LOC105376817;LOC105376818;LOC105376819	1	19512621	A	C
rs140117073	23535966	80273	GRPEL1	umls:C0018021	BeFree	In one of the families, we found two rare heterozygous missense variants, p.V56M in RGS12 and p.G37D in GRPEL1, which segregate with goiter and are both located within the same haplotype on 4p16.	0.000271442	2014	GRPEL1;LOC105374368	4	7064176	C	A,G,T
rs17767419	21565293	4094	MAF	umls:C0018021	GAD	[Genome-wide association study identifies four genetic loci associated with thyroid volume and goiter risk.]	0.002367032	2011	LOC105371356	16	79710651	C	T
rs28939086	15531480	5172	SLC26A4	umls:C0018021	BeFree	Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene.	0.132334436	2004	SLC26A4	7	107690220	A	C
rs3813579	21565293	4094	MAF	umls:C0018021	GAD	[Genome-wide association study identifies four genetic loci associated with thyroid volume and goiter risk.]	0.002367032	2011	LOC105371356	16	79715379	G	A
rs4338740	21565293	2252	FGF7	umls:C0018021	GAD	[Genome-wide association study identifies four genetic loci associated with thyroid volume and goiter risk.]	0.002367032	2011	FGF7;FAM227B	15	49443100	T	C
rs4338740	21565293	196951	FAM227B	umls:C0018021	GAD	[Genome-wide association study identifies four genetic loci associated with thyroid volume and goiter risk.]	0.002367032	2011	FGF7;FAM227B	15	49443100	T	C

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

GWASdb Snp Trait(Total Genotypes:9)
CHR	POS	SNPID	REF	ALT	ORI_SNPID	PMID	P_VALUE	P_VALUE_TEXT	OR/BETA	CI95_TEXT	GWAS_INITIAL_SAMPLE_SIZE	SUB_POPULATION	SUPER_POPULATION	GWAS_TRAIT	HPO_ID	HPO_TERM	DO_ID	DO_TERM	MESH_ID	MESH_TERM	EFO_ID	EFO_TERM	DOLITE_TERM	RISK_ALLELE	PUBLICATION_TYPE	AA	GENE_SYMBOL	TYPE	REFGENE
1	19765518	rs12045440	T	G	rs12045440	21565293	2.00E-11	goiter	1.38	[1.26-1.51]	3,620 European ancestry individuals	European(3620)	ALL(3620)	EUR(3620)	ALL(3620)	Thyroid volume	HPOID:0011772	Abnormality of thyroid morphology	DOID:12176	goiter	D013959	Thyroid Diseases	EFOID:0004865	thryoid volume	Thyroid gland disease	rs12045440-T	Research Support, Non-U.S. Gov't	T	CAPZB
1	19765518	rs12045440	T	G	rs12045440	21565293	3.00E-14	thyroid volume	0.07	[0.05-0.09] unit increase	3,620 European ancestry individuals	European(3620)	ALL(3620)	EUR(3620)	ALL(3620)	Thyroid volume	HPOID:0011772	Abnormality of thyroid morphology	DOID:12176	goiter	D013959	Thyroid Diseases	EFOID:0004865	thryoid volume	Thyroid gland disease	rs12045440-T	Research Support, Non-U.S. Gov't	T	CAPZB
1	19839115	rs12138950	A	C	rs12138950	21565293	3.00E-18	thyroid volume	0.1	[0.08-0.12] unit decrease	3,620 European ancestry individuals	European(3620)	ALL(3620)	EUR(3620)	ALL(3620)	Thyroid volume	HPOID:0011772	Abnormality of thyroid morphology	DOID:12176	goiter	D013959	Thyroid Diseases	EFOID:0004865	thryoid volume	Thyroid gland disease	rs12138950-A	Research Support, Non-U.S. Gov't	C,A	NA
1	19839115	rs568931048	A	AC	rs12138950	21565293	3.00E-18	thyroid volume	0.1	[0.08-0.12] unit decrease	3,620 European ancestry individuals	European(3620)	ALL(3620)	EUR(3620)	ALL(3620)	Thyroid volume	HPOID:0011772	Abnormality of thyroid morphology	DOID:12176	goiter	D013959	Thyroid Diseases	EFOID:0004865	thryoid volume	Thyroid gland disease	rs12138950-A	Research Support, Non-U.S. Gov't	C,A	NA
1	19843354	rs10917468	T	C	rs10917468	21565293	1.00E-14	goiter	1.52	[1.37-1.69]	3,620 European ancestry individuals	European(3620)	ALL(3620)	EUR(3620)	ALL(3620)	Thyroid volume	HPOID:0011772	Abnormality of thyroid morphology	DOID:12176	goiter	D013959	Thyroid Diseases	EFOID:0004865	thryoid volume	Thyroid gland disease	rs10917468-C	Research Support, Non-U.S. Gov't	C	NA
15	49735297	rs4338740	T	C	rs4338740	21565293	1.00E-12	thyroid volume	0.07	[0.05-0.09] unit decrease	3,620 European ancestry individuals	European(3620)	ALL(3620)	EUR(3620)	ALL(3620)	Thyroid volume	HPOID:0011772	Abnormality of thyroid morphology	DOID:12176	goiter	D013959	Thyroid Diseases	EFOID:0004865	thryoid volume	Thyroid gland disease	rs4338740-T	Research Support, Non-U.S. Gov't	C	FGF7
15	49735297	rs4338740	T	C	rs4338740	21565293	3.00E-13	goiter	1.45	[1.32-1.59]	3,620 European ancestry individuals	European(3620)	ALL(3620)	EUR(3620)	ALL(3620)	Thyroid volume	HPOID:0011772	Abnormality of thyroid morphology	DOID:12176	goiter	D013959	Thyroid Diseases	EFOID:0004865	thryoid volume	Thyroid gland disease	rs4338740-C	Research Support, Non-U.S. Gov't	C	FGF7
16	79744548	rs17767419	C	T	rs17767419	21565293	9.00E-15	thyroid volume	0.07	[0.05-0.09] unit increase	3,620 European ancestry individuals	European(3620)	ALL(3620)	EUR(3620)	ALL(3620)	Thyroid volume	HPOID:0011772	Abnormality of thyroid morphology	DOID:12176	goiter	D013959	Thyroid Diseases	EFOID:0004865	thryoid volume	Thyroid gland disease	rs17767419-T	Research Support, Non-U.S. Gov't	C	NA
16	79749276	rs3813579	G	A	rs3813579	21565293	4.00E-10	goiter	1.32	[1.21-1.44]	3,620 European ancestry individuals	European(3620)	ALL(3620)	EUR(3620)	ALL(3620)	Thyroid volume	HPOID:0011772	Abnormality of thyroid morphology	DOID:12176	goiter	D013959	Thyroid Diseases	EFOID:0004865	thryoid volume	Thyroid gland disease	rs3813579-A	Research Support, Non-U.S. Gov't	G	NA

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

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

Chemical(Total Drugs:3)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0018021	indomethacin	D007213	53-86-1	goiter	MESH:D006042	therapeutic	22387750
C0018021	propylthiouracil	D011441	51-52-5	goiter	MESH:D006042	marker/mechanism	10911406
C0018021	propylthiouracil	D011441	51-52-5	goiter	MESH:D006042	therapeutic	1110434

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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