PedAM

Pediatric Disease Annotations & Medicines


	hypospadias

Disease ID	382
Disease	hypospadias
Definition	A birth defect due to malformation of the URETHRA in which the urethral opening is below its normal location. In the male, the malformed urethra generally opens on the ventral surface of the PENIS or on the PERINEUM. In the female, the malformed urethral opening is in the VAGINA.
Synonym	hypospadia hypospadias (disorder)
DOID	DOID:10892
UMLS	C0848558
MeSH	D007021
SNOMED-CT	SNOMEDCT_US_2016_09_01:416010008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:24) C0019294 \| inguinal hernia \| 2 C0005697 \| neurogenic bladder \| 2 C0022735 \| klinefelter syndrome \| 2 C1621895 \| adrenal hyperplasia \| 1 C0001627 \| congenital adrenal hyperplasia \| 1 C0019294 \| inguinal hernias \| 1 C0041341 \| phacomatosis \| 1 C0024236 \| lymphedema \| 1 C0018418 \| gynecomastia \| 1 C0004936 \| mental disorders \| 1 C0042580 \| vesicoureteral reflux \| 1 C0001623 \| adrenal insufficiency \| 1 C1565489 \| renal insufficiency \| 1 C0002766 \| analgesia \| 1 C0010417 \| undescended testis \| 1 C0019555 \| developmental dysplasia of the hip \| 1 C0033953 \| sexual dysfunction \| 1 C0032914 \| preeclampsia \| 1 C0039585 \| androgen insensitivity syndrome \| 1 C0019291 \| hiatus hernia \| 1 C0014130 \| endocrinopathy \| 1 C0028754 \| obesity \| 1 C0008925 \| cleft palate \| 1 C0018051 \| gonadal dysgenesis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:18) HOXA3 \| 3200 \| GWASCAT GREM1 \| 26585 \| GWASCAT ST5 \| 6764 \| GWASCAT HOXA4 \| 3201 \| GWASCAT CCDC59 \| 29080 \| GWASCAT MAMLD1 \| 10046 \| CTD_human ADK \| 132 \| GWASCAT DGKK \| 139189 \| CTD_human;GWASCAT ATF3 \| 467 \| CTD_human KCNMA1 \| 3778 \| GWASCAT EEFSEC \| 60678 \| GWASCAT ZFHX3 \| 463 \| GWASCAT TAX1BP1 \| 8887 \| GWASCAT HSD3B2 \| 3284 \| CTD_human HOXA-AS2 \| 285943 \| GWASCAT EXOC3 \| 11336 \| GWASCAT HAAO \| 23498 \| GWASCAT DNAH6 \| 1768 \| GWASCAT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:24) 231 \| AKR1B1 \| infer 367 \| AR \| infer 467 \| ATF3 \| infer 652 \| BMP4 \| infer 655 \| BMP7 \| infer 1543 \| CYP1A1 \| infer 139189 \| DGKK \| infer 2099 \| ESR1 \| infer 2100 \| ESR2 \| infer 2255 \| FGF10 \| infer 2253 \| FGF8 \| infer 2263 \| FGFR2 \| infer 2288 \| FKBP4 \| infer 2944 \| GSTM1 \| infer 2952 \| GSTT1 \| infer 3201 \| HOXA4 \| infer 3216 \| HOXB6 \| infer 3293 \| HSD17B3 \| infer 3284 \| HSD3B2 \| infer 10046 \| MAMLD1 \| infer 6662 \| SOX9 \| infer 6716 \| SRD5A2 \| infer 6736 \| SRY \| infer 7490 \| WT1 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:264) 100507056 \| CCAT1 \| DISEASES 2288 \| FKBP4 \| DISEASES 8935 \| SKAP2 \| DISEASES 3207 \| HOXA11 \| DISEASES 7544 \| ZFY \| DISEASES 3049 \| HBQ1 \| DISEASES 1947 \| EFNB1 \| DISEASES 10683 \| DLL3 \| DISEASES 2099 \| ESR1 \| DISEASES 7049 \| TGFBR3 \| DISEASES 4320 \| MMP11 \| DISEASES 7380 \| UPK3A \| DISEASES 128674 \| PROKR2 \| DISEASES 268 \| AMH \| DISEASES 1749 \| DLX5 \| DISEASES 3199 \| HOXA2 \| DISEASES 3955 \| LFNG \| DISEASES 3202 \| HOXA5 \| DISEASES 3209 \| HOXA13 \| DISEASES 57532 \| NUFIP2 \| DISEASES 3216 \| HOXB6 \| DISEASES 3910 \| LAMA4 \| DISEASES 6543 \| SLC8A2 \| DISEASES 51426 \| POLK \| DISEASES 6718 \| AKR1D1 \| DISEASES 3623 \| INHA \| DISEASES 1948 \| EFNB2 \| DISEASES 652 \| BMP4 \| DISEASES 6662 \| SOX9 \| DISEASES 7389 \| UROD \| DISEASES 10054 \| UBA2 \| DISEASES 2952 \| GSTT1 \| DISEASES 3237 \| HOXD11 \| DISEASES 1618 \| DAZL \| DISEASES 84271 \| POLDIP3 \| DISEASES 25873 \| RPL36 \| DISEASES 140628 \| GATA5 \| DISEASES 3911 \| LAMA5 \| DISEASES 55902 \| ACSS2 \| DISEASES 4608 \| MYBPH \| DISEASES 10894 \| LYVE1 \| DISEASES 57498 \| KIDINS220 \| DISEASES 55997 \| CFC1 \| DISEASES 23213 \| SULF1 \| DISEASES 2230 \| FDX1 \| DISEASES 1588 \| CYP19A1 \| DISEASES 23314 \| SATB2 \| DISEASES 949 \| SCARB1 \| DISEASES 57551 \| TAOK1 \| DISEASES 54962 \| TIPIN \| DISEASES 23361 \| ZNF629 \| DISEASES 27443 \| CECR2 \| DISEASES 6845 \| VAMP7 \| DISEASES 11043 \| MID2 \| DISEASES 5613 \| PRKX \| DISEASES 10133 \| OPTN \| DISEASES 1109 \| AKR1C4 \| DISEASES 8424 \| BBOX1 \| DISEASES 2033 \| EP300 \| DISEASES 28960 \| DCPS \| DISEASES 2255 \| FGF10 \| DISEASES 5443 \| POMC \| DISEASES 10686 \| CLDN16 \| DISEASES 2121 \| EVC \| DISEASES 7008 \| TEF \| DISEASES 50846 \| DHH \| DISEASES 1583 \| CYP11A1 \| DISEASES 126374 \| WTIP \| DISEASES 5972 \| REN \| DISEASES 6233 \| RPS27A \| DISEASES 6715 \| SRD5A1 \| DISEASES 2041 \| EPHA1 \| DISEASES 2796 \| GNRH1 \| DISEASES 6770 \| STAR \| DISEASES 4851 \| NOTCH1 \| DISEASES 4863 \| NPAT \| DISEASES 5013 \| OTX1 \| DISEASES 10750 \| GRAP \| DISEASES 392255 \| GDF6 \| DISEASES 4838 \| NODAL \| DISEASES 163786 \| SASS6 \| DISEASES 8321 \| FZD1 \| DISEASES 6493 \| SIM2 \| DISEASES 7832 \| BTG2 \| DISEASES 79190 \| IRX6 \| DISEASES 197131 \| UBR1 \| DISEASES 9592 \| IER2 \| DISEASES 1973 \| EIF4A1 \| DISEASES 3973 \| LHCGR \| DISEASES 51127 \| TRIM17 \| DISEASES 51072 \| MEMO1 \| DISEASES 60675 \| PROK2 \| DISEASES 50852 \| TRAT1 \| DISEASES 6469 \| SHH \| DISEASES 5885 \| RAD21 \| DISEASES 122042 \| RXFP2 \| DISEASES 9317 \| PTER \| DISEASES 55628 \| ZNF407 \| DISEASES 1632 \| ECI1 \| DISEASES 9081 \| PRY \| DISEASES 9839 \| ZEB2 \| DISEASES 442862 \| PRY2 \| DISEASES 5940 \| RBMY1A1 \| DISEASES 442866 \| PRYP4 \| DISEASES 90075 \| ZNF30 \| DISEASES 171558 \| PTCRA \| DISEASES 7314 \| UBB \| DISEASES 25928 \| SOSTDC1 \| DISEASES 7543 \| ZFX \| DISEASES 79192 \| IRX1 \| DISEASES 10655 \| DMRT2 \| DISEASES 118429 \| ANTXR2 \| DISEASES 1501 \| CTNND2 \| DISEASES 9915 \| ARNT2 \| DISEASES 51162 \| EGFL7 \| DISEASES 79748 \| LMAN1L \| DISEASES 2944 \| GSTM1 \| DISEASES 54968 \| TMEM70 \| DISEASES 493829 \| TRIM72 \| DISEASES 4281 \| MID1 \| DISEASES 81832 \| NETO1 \| DISEASES 84215 \| ZNF541 \| DISEASES 80818 \| ZNF436 \| DISEASES 147912 \| SIX5 \| DISEASES 23621 \| BACE1 \| DISEASES 3640 \| INSL3 \| DISEASES 2253 \| FGF8 \| DISEASES 2274 \| FHL2 \| DISEASES 10194 \| TSHZ1 \| DISEASES 4642 \| MYO1D \| DISEASES 1555 \| CYP2B6 \| DISEASES 3200 \| HOXA3 \| DISEASES 148266 \| ZNF569 \| DISEASES 23384 \| SPECC1L \| DISEASES 3052 \| HCCS \| DISEASES 3855 \| KRT7 \| DISEASES 7490 \| WT1 \| DISEASES 9704 \| DHX34 \| DISEASES 2049 \| EPHB3 \| DISEASES 148103 \| ZNF599 \| DISEASES 79087 \| ALG12 \| DISEASES 10519 \| CIB1 \| DISEASES 2152 \| F3 \| DISEASES 2626 \| GATA4 \| DISEASES 199720 \| GGN \| DISEASES 114548 \| NLRP3 \| DISEASES 10948 \| STARD3 \| DISEASES 10011 \| SRA1 \| DISEASES 1687 \| DFNA5 \| DISEASES 7060 \| THBS4 \| DISEASES 145873 \| MESP2 \| DISEASES 442865 \| PRYP3 \| DISEASES 2138 \| EYA1 \| DISEASES 108 \| ADCY2 \| DISEASES 2100 \| ESR2 \| DISEASES 467 \| ATF3 \| DISEASES 224 \| ALDH3A2 \| DISEASES 6218 \| RPS17 \| DISEASES 6204 \| RPS10 \| DISEASES 51710 \| ZNF44 \| DISEASES 6231 \| RPS26 \| DISEASES 284654 \| RSPO1 \| DISEASES 9589 \| WTAP \| DISEASES 55010 \| PARPBP \| DISEASES 23607 \| CD2AP \| DISEASES 6258 \| RXRG \| DISEASES 3201 \| HOXA4 \| DISEASES 222662 \| LHFPL5 \| DISEASES 11076 \| TPPP \| DISEASES 6663 \| SOX10 \| DISEASES 6935 \| ZEB1 \| DISEASES 2736 \| GLI2 \| DISEASES 83881 \| MIXL1 \| DISEASES 5996 \| RGS1 \| DISEASES 11266 \| DUSP12 \| DISEASES 1490 \| CTGF \| DISEASES 2018 \| EMX2 \| DISEASES 2045 \| EPHA7 \| DISEASES 3283 \| HSD3B1 \| DISEASES 3284 \| HSD3B2 \| DISEASES 2316 \| FLNA \| DISEASES 1586 \| CYP17A1 \| DISEASES 6125 \| RPL5 \| DISEASES 6658 \| SOX3 \| DISEASES 27063 \| ANKRD1 \| DISEASES 90550 \| MCU \| DISEASES 114789 \| SLC25A25 \| DISEASES 50945 \| TBX22 \| DISEASES 9935 \| MAFB \| DISEASES 2516 \| NR5A1 \| DISEASES 6732 \| SRPK1 \| DISEASES 22943 \| DKK1 \| DISEASES 1741 \| DLG3 \| DISEASES 6135 \| RPL11 \| DISEASES 2048 \| EPHB2 \| DISEASES 6257 \| RXRB \| DISEASES 367 \| AR \| DISEASES 3293 \| HSD17B3 \| DISEASES 8874 \| ARHGEF7 \| DISEASES 1910 \| EDNRB \| DISEASES 390992 \| HES3 \| DISEASES 10097 \| ACTR2 \| DISEASES 388585 \| HES5 \| DISEASES 190 \| NR0B1 \| DISEASES 5080 \| PAX6 \| DISEASES 387755 \| INSC \| DISEASES 1543 \| CYP1A1 \| DISEASES 284390 \| ZNF763 \| DISEASES 6462 \| SHBG \| DISEASES 8644 \| AKR1C3 \| DISEASES 54796 \| BNC2 \| DISEASES 169792 \| GLIS3 \| DISEASES 1761 \| DMRT1 \| DISEASES 23189 \| KANK1 \| DISEASES 9037 \| SEMA5A \| DISEASES 6736 \| SRY \| DISEASES 285220 \| EPHA6 \| DISEASES 11100 \| HNRNPUL1 \| DISEASES 3239 \| HOXD13 \| DISEASES 6996 \| TDG \| DISEASES 2719 \| GPC3 \| DISEASES 10265 \| IRX5 \| DISEASES 655 \| BMP7 \| DISEASES 2737 \| GLI3 \| DISEASES 115560 \| ZNF501 \| DISEASES 4356 \| MPP3 \| DISEASES 25974 \| MMACHC \| DISEASES 55209 \| SETD5 \| DISEASES 22976 \| PAXIP1 \| DISEASES 23414 \| ZFPM2 \| DISEASES 1617 \| DAZ1 \| DISEASES 2909 \| ARHGAP35 \| DISEASES 7311 \| UBA52 \| DISEASES 55900 \| ZNF302 \| DISEASES 55636 \| CHD7 \| DISEASES 6165 \| RPL35A \| DISEASES 2674 \| GFRA1 \| DISEASES 374868 \| ATP9B \| DISEASES 3491 \| CYR61 \| DISEASES 57135 \| DAZ4 \| DISEASES 5334 \| PLCL1 \| DISEASES 4861 \| NPAS1 \| DISEASES 1589 \| CYP21A2 \| DISEASES 2263 \| FGFR2 \| DISEASES 7499 \| XG \| DISEASES 84441 \| MAML2 \| DISEASES 6229 \| RPS24 \| DISEASES 10046 \| MAMLD1 \| DISEASES 2128 \| EVX1 \| DISEASES 127933 \| UHMK1 \| DISEASES 339318 \| ZNF181 \| DISEASES 1750 \| DLX6 \| DISEASES 388015 \| RTL1 \| DISEASES 4090 \| SMAD5 \| DISEASES 373863 \| DND1 \| DISEASES 84667 \| HES7 \| DISEASES 56917 \| MEIS3 \| DISEASES 2232 \| FDXR \| DISEASES 6209 \| RPS15 \| DISEASES 6223 \| RPS19 \| DISEASES 102723508 \| KANTR \| DISEASES 399959 \| MIR100HG \| DISEASES 26766 \| RNU105C \| DISEASES 6080 \| SNORA73A \| DISEASES
Locus	(Waiting for update.)

Disease ID	382
Disease	hypospadias
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:41) HP:0000041 \| Chordee \| 24 HP:0000028 \| Cryptorchidism \| 13 HP:0100600 \| Prepenile scrotum \| 5 HP:0000054 \| Short penis \| 3 HP:0001518 \| Small for gestational age \| 3 HP:0001511 \| Prenatal onset growth retardation \| 2 HP:0100548 \| Exstrophy \| 2 HP:0030260 \| Microphallus \| 2 HP:0000048 \| Bifid scrotum \| 2 HP:0000023 \| Inguinal hernia \| 2 HP:0100790 \| Hernia \| 2 HP:0008689 \| Bilateral cryptorchidism \| 2 HP:0000011 \| Neurogenic bladder \| 2 HP:0000083 \| Renal insufficiency \| 1 HP:0000846 \| Hypoadrenalism \| 1 HP:0008071 \| Maternal hypertension \| 1 HP:0000316 \| Increased distance between eye sockets \| 1 HP:0000969 \| Dropsy \| 1 HP:0000020 \| Bladder incontinence \| 1 HP:0000039 \| Epispadias \| 1 HP:0000062 \| Ambiguous external genitalia \| 1 HP:0100602 \| Pre-eclampsia \| 1 HP:0000133 \| Mixed gonadal dysgenesis \| 1 HP:0004325 \| Low body weight \| 1 HP:0001513 \| Obesity \| 1 HP:0000175 \| Palatoschisis \| 1 HP:0000076 \| Vesicoureteric reflux \| 1 HP:0008258 \| Congenital adrenal hyperplasia \| 1 HP:0001004 \| Lymphatic obstruction \| 1 HP:0010442 \| Polydactyly \| 1 HP:0000078 \| Genital abnormalities \| 1 HP:0002036 \| Hiatus hernia \| 1 HP:0000089 \| Small kidneys \| 1 HP:0000835 \| Hypoplastic adrenal glands \| 1 HP:0008244 \| Congenital adrenal gland hypoplasia \| 1 HP:0000771 \| Gynaecomastia \| 1 HP:0002575 \| Tracheoesophageal fistula \| 1 HP:0100699 \| Scarring \| 1 HP:0008221 \| Enlarged adrenal glands \| 1 HP:0000010 \| Frequent urinary tract infections \| 1 HP:0000119 \| Genitourinary abnormality \| 1

Disease ID	382
Disease	hypospadias
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:30)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1020397	22648180	9915	ARNT2	umls:C0848558	BeFree	In the ITA study group, two SNPs in AHR (rs3757824) and ARNT2 (rs1020397) were significantly associated with risk of CO. Interaction analysis of the positive SNPs using multifactor dimensionality reduction demonstrated that synergistic interaction between rs2472680, rs4919686 and rs5000770 had 62.81% prediction accuracy for CO (P=0.011) and that between rs2069521 and rs2278705 had 69.98% prediction accuracy for HS (P=0.001) in JPN population.	0.000542884	2012	ARNT2	15	80426396	G	C
rs10214930	25108383	8887	TAX1BP1	umls:C0848558	GWASCAT	Genome-wide association analyses identify variants in developmental genes associated with hypospadias.	0.12	2014	TAX1BP1	7	27745330	G	A
rs10762738	25108383	3778	KCNMA1	umls:C0848558	GWASCAT	Genome-wide association analyses identify variants in developmental genes associated with hypospadias.	0.12	2014	KCNMA1;KCNMA1-AS1	10	76935709	A	G
rs10979	25108383	285740	LOC285740	umls:C0848558	GWASCAT	Genome-wide association analyses identify variants in developmental genes associated with hypospadias.	0.12	2014	LOC285740	6	143568902	G	A
rs1110061	23154282	2516	NR5A1	umls:C0848558	BeFree	The p.G146A and p.P125P polymorphisms in the steroidogenic factor-1 (SF-1) gene do not affect the risk for hypospadias in Caucasians.	0.004538567	2012	NR5A1	9	124500523	C	G
rs1110062	23154282	2516	NR5A1	umls:C0848558	BeFree	The p.G146A and p.P125P polymorphisms in the steroidogenic factor-1 (SF-1) gene do not affect the risk for hypospadias in Caucasians.	0.004538567	2012	NR5A1	9	124500585	C	T
rs11749327	25108383	11336	EXOC3	umls:C0848558	GWASCAT	Genome-wide association analyses identify variants in developmental genes associated with hypospadias.	0.12	2014	EXOC3	5	457146	C	A
rs143136847	25108383	29080	CCDC59	umls:C0848558	GWASCAT	Genome-wide association analyses identify variants in developmental genes associated with hypospadias.	0.12	2014	CCDC59	12	82354560	T	C,G
rs17747401	25108383	132	ADK	umls:C0848558	GWASCAT	Genome-wide association analyses identify variants in developmental genes associated with hypospadias.	0.12	2014	ADK	10	74640406	C	T
rs1801085	25108383	3200	HOXA3	umls:C0848558	GWASCAT	Genome-wide association analyses identify variants in developmental genes associated with hypospadias.	0.12	2014	HOXA3;HOXA4;HOXA-AS2	7	27128971	A	G
rs1801085	25108383	285943	HOXA-AS2	umls:C0848558	GWASCAT	Genome-wide association analyses identify variants in developmental genes associated with hypospadias.	0.12	2014	HOXA3;HOXA4;HOXA-AS2	7	27128971	A	G
rs1801085	25108383	3201	HOXA4	umls:C0848558	GWASCAT	Genome-wide association analyses identify variants in developmental genes associated with hypospadias.	0.122638474	2014	HOXA3;HOXA4;HOXA-AS2	7	27128971	A	G
rs1858800	25108383	463	ZFHX3	umls:C0848558	GWASCAT	Genome-wide association analyses identify variants in developmental genes associated with hypospadias.	0.12	2014	ZFHX3	16	72990377	C	T
rs1918690	25108383	1768	DNAH6	umls:C0848558	GWASCAT	Genome-wide association analyses identify variants in developmental genes associated with hypospadias.	0.12	2014	DNAH6	2	84679791	T	C
rs1934179	21113153	139189	DGKK	umls:C0848558	GWASCAT	Common variants in DGKK are strongly associated with risk of hypospadias.	0.243181358	2011	DGKK	X	50439186	G	A
rs1934179	21113153	139189	DGKK	umls:C0848558	GAD	[Common variants in DGKK are strongly associated with risk of hypospadias.]	0.243181358	2011	DGKK	X	50439186	G	A
rs2066479	20059664	3293	HSD17B3	umls:C0848558	BeFree	These results suggest that the HSD17B3 G289S polymorphism may be a potential risk modifier for hypospadias.	0.002638474	2010	HSD17B3	9	96235528	C	T,G,A
rs2069521	22648180	9915	ARNT2	umls:C0848558	BeFree	In the ITA study group, two SNPs in AHR (rs3757824) and ARNT2 (rs1020397) were significantly associated with risk of CO. Interaction analysis of the positive SNPs using multifactor dimensionality reduction demonstrated that synergistic interaction between rs2472680, rs4919686 and rs5000770 had 62.81% prediction accuracy for CO (P=0.011) and that between rs2069521 and rs2278705 had 69.98% prediction accuracy for HS (P=0.001) in JPN population.	0.000542884	2012	NA	15	74746626	G	A
rs2278705	22648180	9915	ARNT2	umls:C0848558	BeFree	In the ITA study group, two SNPs in AHR (rs3757824) and ARNT2 (rs1020397) were significantly associated with risk of CO. Interaction analysis of the positive SNPs using multifactor dimensionality reduction demonstrated that synergistic interaction between rs2472680, rs4919686 and rs5000770 had 62.81% prediction accuracy for CO (P=0.011) and that between rs2069521 and rs2278705 had 69.98% prediction accuracy for HS (P=0.001) in JPN population.	0.000542884	2012	NA	15	80402288	C	T
rs2472680	22648180	9915	ARNT2	umls:C0848558	BeFree	In the ITA study group, two SNPs in AHR (rs3757824) and ARNT2 (rs1020397) were significantly associated with risk of CO. Interaction analysis of the positive SNPs using multifactor dimensionality reduction demonstrated that synergistic interaction between rs2472680, rs4919686 and rs5000770 had 62.81% prediction accuracy for CO (P=0.011) and that between rs2069521 and rs2278705 had 69.98% prediction accuracy for HS (P=0.001) in JPN population.	0.000542884	2012	NR1I2	3	119808929	T	C
rs2999052	25108383	60678	EEFSEC	umls:C0848558	GWASCAT	Genome-wide association analyses identify variants in developmental genes associated with hypospadias.	0.12	2014	EEFSEC;LOC105374098	3	128173194	T	C
rs3743104	25108383	26585	GREM1	umls:C0848558	GWASCAT	Genome-wide association analyses identify variants in developmental genes associated with hypospadias.	0.12	2014	GREM1	15	32731784	A	G
rs3757824	22648180	9915	ARNT2	umls:C0848558	BeFree	In the ITA study group, two SNPs in AHR (rs3757824) and ARNT2 (rs1020397) were significantly associated with risk of CO. Interaction analysis of the positive SNPs using multifactor dimensionality reduction demonstrated that synergistic interaction between rs2472680, rs4919686 and rs5000770 had 62.81% prediction accuracy for CO (P=0.011) and that between rs2069521 and rs2278705 had 69.98% prediction accuracy for HS (P=0.001) in JPN population.	0.000542884	2012	LOC101927609	7	17296411	T	C
rs3812762	25108383	6764	ST5	umls:C0848558	GWASCAT	Genome-wide association analyses identify variants in developmental genes associated with hypospadias.	0.12	2014	ST5	11	8730093	G	C
rs3816183	25108383	23498	HAAO	umls:C0848558	GWASCAT	Genome-wide association analyses identify variants in developmental genes associated with hypospadias.	0.12	2014	HAAO;MTA3	2	42788579	T	C
rs4554617	25108383	139189	DGKK	umls:C0848558	GWASCAT	Genome-wide association analyses identify variants in developmental genes associated with hypospadias.	0.243181358	2014	DGKK	X	50460404	A	C
rs4919686	22648180	9915	ARNT2	umls:C0848558	BeFree	In the ITA study group, two SNPs in AHR (rs3757824) and ARNT2 (rs1020397) were significantly associated with risk of CO. Interaction analysis of the positive SNPs using multifactor dimensionality reduction demonstrated that synergistic interaction between rs2472680, rs4919686 and rs5000770 had 62.81% prediction accuracy for CO (P=0.011) and that between rs2069521 and rs2278705 had 69.98% prediction accuracy for HS (P=0.001) in JPN population.	0.000542884	2012	CYP17A1;CYP17A1-AS1	10	102832492	A	C
rs5000770	23285176	9915	ARNT2	umls:C0848558	BeFree	The effect of single-nucleotide polymorphism rs5000770 (G>A), located within the aryl hydrocarbon receptor nuclear translocator 2 (ARNT2) locus, on individual sensitivity to low-dose BPA was investigated in the HS group.	0.000542884	2012	ARNT2	15	80424141	G	A
rs5000770	22648180	9915	ARNT2	umls:C0848558	BeFree	In the ITA study group, two SNPs in AHR (rs3757824) and ARNT2 (rs1020397) were significantly associated with risk of CO. Interaction analysis of the positive SNPs using multifactor dimensionality reduction demonstrated that synergistic interaction between rs2472680, rs4919686 and rs5000770 had 62.81% prediction accuracy for CO (P=0.011) and that between rs2069521 and rs2278705 had 69.98% prediction accuracy for HS (P=0.001) in JPN population.	0.000542884	2012	ARNT2	15	80424141	G	A
rs6932902	23088992	2099	ESR1	umls:C0848558	BeFree	For rs6932902 in ESR1 only maternally derived alleles appeared to increase hypospadias risk in offspring.	0.014178448	2012	ESR1	6	152055389	G	A

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

GWASdb Snp Trait(Total Genotypes:1)
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
X	50182184	rs1934179	G	A	rs1934179	21113153	3.00E-21	NA	2.6	[2.10-3.10]	436 European descent cases; 494 European descent controls	European(930)	ALL(930)	EUR(930)	ALL(930)	Hypospadias	HPOID:0000047	Hypospadias	DOID:10892	hypospadias	D007021	Hypospadias	familial hypospadias	NA	rs1934179-A	Research Support, Non-U.S. Gov't	T	DGKK	intron

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

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

Chemical(Total Drugs:5)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0848558	diethylstilbestrol	D004054	56-53-1	hypospadias	MESH:D007021	marker/mechanism	11748570
C0848558	folic acid	D005492	59-30-3	hypospadias	MESH:D007021	therapeutic	19270804
C0848558	lindane	D001556	58-89-9	hypospadias	MESH:D007021	marker/mechanism	21300689
C0848558	loratadine	D017336	79794-75-5	hypospadias	MESH:D007021	marker/mechanism	16407038
C0848558	valproic acid	D014635	99-66-1	hypospadias	MESH:D007021	marker/mechanism	1574164

FDA approved drug and dosage information(Total Drugs:5)
DiseaseID	Drug_name	active_ingredients	strength	Dosage Form/Route	Marketing Status	TE code	RLD	RS
MESH:D007021	claritin	loratadine	10MG	TABLET;ORAL	Over-the-counter	None	Yes	Yes
MESH:D007021	claritin	loratadine	1MG/ML	SYRUP;ORAL	Over-the-counter	None	Yes	Yes
MESH:D007021	claritin	loratadine	10MG	CAPSULE;ORAL	Over-the-counter	None	Yes	Yes
MESH:D007021	loratadine	loratadine	10MG	TABLET;ORAL	Discontinued	None	No	No
MESH:D007021	loratadine	loratadine	1MG/ML	SUSPENSION;ORAL	Over-the-counter	None	Yes	Yes

FDA labeling changes(Total Drugs:5)
DiseaseID	Pediatric_Labeling_Date	Trade_Name	Generic_Name_or_Proper_Name	Indications Studied	Label Changes Summary	Product Labeling	BPCA(B)	PREA(P)	BPCA(B) and PREA(P)	Pediatric Rule (R)	Sponsor	Pediatric Exclusivity Granted Date	NNPS
MESH:D007021	4/12/2000	claritin	loratadine	Allergic rhinitis/Urticaria	Labeling for 2 - 5 year olds including information on dose, PK parameters and AE profile PK parameter in 2-5 year olds given a 5mg dose was comparable to the 10mg dose in children 6 years to adolescence	Labeling	B	-	-	-	Schering	08/14/2000	FALSE'
MESH:D007021	4/12/2000	claritin	loratadine	Allergic rhinitis/Urticaria	Labeling for 2 - 5 year olds including information on dose, PK parameters and AE profile PK parameter in 2-5 year olds given a 5mg dose was comparable to the 10mg dose in children 6 years to adolescence	Labeling	B	-	-	-	Schering	08/14/2000	FALSE'
MESH:D007021	4/12/2000	claritin	loratadine	Allergic rhinitis/Urticaria	Labeling for 2 - 5 year olds including information on dose, PK parameters and AE profile PK parameter in 2-5 year olds given a 5mg dose was comparable to the 10mg dose in children 6 years to adolescence	Labeling	B	-	-	-	Schering	08/14/2000	FALSE'
MESH:D007021	4/12/2000	claritin	loratadine	Allergic rhinitis/Urticaria	Labeling for 2 - 5 year olds including information on dose, PK parameters and AE profile PK parameter in 2-5 year olds given a 5mg dose was comparable to the 10mg dose in children 6 years to adolescence	Labeling	B	-	-	-	Schering	08/14/2000	FALSE'
MESH:D007021	4/12/2000	claritin	loratadine	Allergic rhinitis/Urticaria	Labeling for 2 - 5 year olds including information on dose, PK parameters and AE profile PK parameter in 2-5 year olds given a 5mg dose was comparable to the 10mg dose in children 6 years to adolescence	Labeling	B	-	-	-	Schering	08/14/2000	FALSE'