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	hypospadias

Disease ID	1040
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:21) C0022735 \| klinefelter syndrome \| 2 C0005697 \| neurogenic bladder \| 2 C0041341 \| phacomatosis \| 1 C0002766 \| analgesia \| 1 C0039585 \| androgen insensitivity syndrome \| 1 C0032914 \| preeclampsia \| 1 C0019294 \| inguinal hernia \| 1 C0042580 \| vesicoureteral reflux \| 1 C0014130 \| endocrinopathy \| 1 C1621895 \| adrenal hyperplasia \| 1 C1565489 \| renal insufficiency \| 1 C0001627 \| congenital adrenal hyperplasia \| 1 C0019555 \| developmental dysplasia of the hip \| 1 C0001623 \| adrenal insufficiency \| 1 C0019294 \| inguinal hernias \| 1 C0028754 \| obesity \| 1 C0033953 \| sexual dysfunction \| 1 C0019291 \| hiatus hernia \| 1 C0024236 \| lymphedema \| 1 C0004936 \| mental disorders \| 1 C0010417 \| undescended testis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:18) 467 \| ATF3 \| CTD_human 132 \| ADK \| GWASCAT 60678 \| EEFSEC \| GWASCAT 3778 \| KCNMA1 \| GWASCAT 285943 \| HOXA-AS2 \| GWASCAT 3284 \| HSD3B2 \| CTD_human 1768 \| DNAH6 \| GWASCAT 6764 \| ST5 \| GWASCAT 26585 \| GREM1 \| GWASCAT 29080 \| CCDC59 \| GWASCAT 3201 \| HOXA4 \| GWASCAT 3200 \| HOXA3 \| GWASCAT 23498 \| HAAO \| GWASCAT 11336 \| EXOC3 \| GWASCAT 463 \| ZFHX3 \| GWASCAT 10046 \| MAMLD1 \| CTD_human 8887 \| TAX1BP1 \| GWASCAT 139189 \| DGKK \| CTD_human;GWASCAT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:24) 231 \| AKR1B1 \| CIPHER 367 \| AR \| CIPHER 467 \| ATF3 \| CIPHER;CTD_human 652 \| BMP4 \| CIPHER 655 \| BMP7 \| CIPHER 1543 \| CYP1A1 \| CIPHER 139189 \| DGKK \| CIPHER;CTD_human 2099 \| ESR1 \| CIPHER 2100 \| ESR2 \| CIPHER 2255 \| FGF10 \| CIPHER 2253 \| FGF8 \| CIPHER 2263 \| FGFR2 \| CIPHER 2288 \| FKBP4 \| CIPHER 2944 \| GSTM1 \| CIPHER 2952 \| GSTT1 \| CIPHER 3201 \| HOXA4 \| CIPHER 3216 \| HOXB6 \| CIPHER 3293 \| HSD17B3 \| CIPHER 3284 \| HSD3B2 \| CIPHER;CTD_human 10046 \| MAMLD1 \| CIPHER;CTD_human 6662 \| SOX9 \| CIPHER 6716 \| SRD5A2 \| CIPHER 6736 \| SRY \| CIPHER 7490 \| WT1 \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:140) 10097 \| ACTR2 \| 1.695 \| DISEASES 108 \| ADCY2 \| 2.113 \| DISEASES 8644 \| AKR1C3 \| 1.717 \| DISEASES 224 \| ALDH3A2 \| 1.097 \| DISEASES 79087 \| ALG12 \| 2.358 \| DISEASES 27063 \| ANKRD1 \| 1.656 \| DISEASES 367 \| AR \| 5.175 \| DISEASES 2909 \| ARHGAP35 \| 1.619 \| DISEASES 8874 \| ARHGEF7 \| 1.437 \| DISEASES 467 \| ATF3 \| 4.566 \| DISEASES 374868 \| ATP9B \| 3.039 \| DISEASES 655 \| BMP7 \| 3.067 \| DISEASES 54796 \| BNC2 \| 3.527 \| DISEASES 100507056 \| CCAT1 \| 1.48 \| DISEASES 23607 \| CD2AP \| 1.081 \| DISEASES 55636 \| CHD7 \| 1.534 \| DISEASES 10519 \| CIB1 \| 1.315 \| DISEASES 1490 \| CTGF \| 1.511 \| DISEASES 1586 \| CYP17A1 \| 3.61 \| DISEASES 1543 \| CYP1A1 \| 2.118 \| DISEASES 1589 \| CYP21A2 \| 2.403 \| DISEASES 1555 \| CYP2B6 \| 1.038 \| DISEASES 3491 \| CYR61 \| 2.447 \| DISEASES 1617 \| DAZ1 \| 1.995 \| DISEASES 57135 \| DAZ4 \| 1.166 \| DISEASES 1687 \| DFNA5 \| 1.781 \| DISEASES 9704 \| DHX34 \| 3.091 \| DISEASES 22943 \| DKK1 \| 1.078 \| DISEASES 1741 \| DLG3 \| 1.373 \| DISEASES 1750 \| DLX6 \| 2.85 \| DISEASES 1761 \| DMRT1 \| 3.072 \| DISEASES 373863 \| DND1 \| 2.28 \| DISEASES 11266 \| DUSP12 \| 1.149 \| DISEASES 1910 \| EDNRB \| 1.945 \| DISEASES 2018 \| EMX2 \| 2.636 \| DISEASES 285220 \| EPHA6 \| 2.156 \| DISEASES 2045 \| EPHA7 \| 1.398 \| DISEASES 2048 \| EPHB2 \| 1.736 \| DISEASES 2049 \| EPHB3 \| 2.564 \| DISEASES 2100 \| ESR2 \| 2.733 \| DISEASES 2128 \| EVX1 \| 2.312 \| DISEASES 2138 \| EYA1 \| 2.338 \| DISEASES 2152 \| F3 \| 2.055 \| DISEASES 2232 \| FDXR \| 1.543 \| DISEASES 2253 \| FGF8 \| 3.854 \| DISEASES 2263 \| FGFR2 \| 3.229 \| DISEASES 2274 \| FHL2 \| 1.534 \| DISEASES 2316 \| FLNA \| 1.781 \| DISEASES 2626 \| GATA4 \| 1.739 \| DISEASES 2674 \| GFRA1 \| 1.049 \| DISEASES 199720 \| GGN \| 3.331 \| DISEASES 2736 \| GLI2 \| 1.988 \| DISEASES 2737 \| GLI3 \| 2.118 \| DISEASES 169792 \| GLIS3 \| 1.247 \| DISEASES 2719 \| GPC3 \| 1.036 \| DISEASES 3052 \| HCCS \| 1.054 \| DISEASES 390992 \| HES3 \| 4.58 \| DISEASES 388585 \| HES5 \| 1.241 \| DISEASES 84667 \| HES7 \| 2.044 \| DISEASES 11100 \| HNRNPUL1 \| 2.633 \| DISEASES 3200 \| HOXA3 \| 2.991 \| DISEASES 3201 \| HOXA4 \| 3.764 \| DISEASES 3239 \| HOXD13 \| 3.48 \| DISEASES 3293 \| HSD17B3 \| 4.574 \| DISEASES 3283 \| HSD3B1 \| 3.841 \| DISEASES 3284 \| HSD3B2 \| 3.811 \| DISEASES 387755 \| INSC \| 1.408 \| DISEASES 3640 \| INSL3 \| 3.759 \| DISEASES 10265 \| IRX5 \| 2.101 \| DISEASES 23189 \| KANK1 \| 1.898 \| DISEASES 102723508 \| KANTR \| 1.504 \| DISEASES 3855 \| KRT7 \| 1.26 \| DISEASES 222662 \| LHFPL5 \| 2.166 \| DISEASES 9935 \| MAFB \| 1.215 \| DISEASES 84441 \| MAML2 \| 2.565 \| DISEASES 10046 \| MAMLD1 \| 5.998 \| DISEASES 90550 \| MCU \| 2.656 \| DISEASES 56917 \| MEIS3 \| 2.62 \| DISEASES 145873 \| MESP2 \| 2.357 \| DISEASES 399959 \| MIR100HG \| 3.186 \| DISEASES 83881 \| MIXL1 \| 1.068 \| DISEASES 25974 \| MMACHC \| 1.257 \| DISEASES 4356 \| MPP3 \| 1.977 \| DISEASES 4642 \| MYO1D \| 2.308 \| DISEASES 114548 \| NLRP3 \| 1.162 \| DISEASES 4861 \| NPAS1 \| 2.483 \| DISEASES 190 \| NR0B1 \| 3.06 \| DISEASES 2516 \| NR5A1 \| 5.334 \| DISEASES 55010 \| PARPBP \| 1.962 \| DISEASES 5080 \| PAX6 \| 1.467 \| DISEASES 22976 \| PAXIP1 \| 1.98 \| DISEASES 5334 \| PLCL1 \| 2.021 \| DISEASES 442865 \| PRYP3 \| 2.551 \| DISEASES 5996 \| RGS1 \| 1.338 \| DISEASES 26766 \| RNU105C \| 3.003 \| DISEASES 6135 \| RPL11 \| 2.442 \| DISEASES 6165 \| RPL35A \| 2.827 \| DISEASES 6125 \| RPL5 \| 2.46 \| DISEASES 6204 \| RPS10 \| 2.217 \| DISEASES 6209 \| RPS15 \| 1.796 \| DISEASES 6218 \| RPS17 \| 2.686 \| DISEASES 6223 \| RPS19 \| 2.12 \| DISEASES 6229 \| RPS24 \| 2.401 \| DISEASES 6231 \| RPS26 \| 1.793 \| DISEASES 284654 \| RSPO1 \| 1.26 \| DISEASES 388015 \| RTL1 \| 1.921 \| DISEASES 6257 \| RXRB \| 1.825 \| DISEASES 6258 \| RXRG \| 1.701 \| DISEASES 9037 \| SEMA5A \| 2.573 \| DISEASES 55209 \| SETD5 \| 2.393 \| DISEASES 6462 \| SHBG \| 2.293 \| DISEASES 114789 \| SLC25A25 \| 2.182 \| DISEASES 4090 \| SMAD5 \| 1.175 \| DISEASES 6080 \| SNORA73A \| 2.936 \| DISEASES 6663 \| SOX10 \| 1.3 \| DISEASES 6658 \| SOX3 \| 1.227 \| DISEASES 23384 \| SPECC1L \| 3.005 \| DISEASES 10011 \| SRA1 \| 1.042 \| DISEASES 6732 \| SRPK1 \| 1.667 \| DISEASES 6736 \| SRY \| 5.124 \| DISEASES 10948 \| STARD3 \| 1.819 \| DISEASES 50945 \| TBX22 \| 2.392 \| DISEASES 6996 \| TDG \| 1.314 \| DISEASES 7060 \| THBS4 \| 1.616 \| DISEASES 11076 \| TPPP \| 1.638 \| DISEASES 10194 \| TSHZ1 \| 1.379 \| DISEASES 7311 \| UBA52 \| 1.33 \| DISEASES 127933 \| UHMK1 \| 1.147 \| DISEASES 7490 \| WT1 \| 3.874 \| DISEASES 9589 \| WTAP \| 2.98 \| DISEASES 7499 \| XG \| 2.816 \| DISEASES 6935 \| ZEB1 \| 1.978 \| DISEASES 23414 \| ZFPM2 \| 1.385 \| DISEASES 339318 \| ZNF181 \| 3.622 \| DISEASES 55900 \| ZNF302 \| 3.622 \| DISEASES 51710 \| ZNF44 \| 1.494 \| DISEASES 115560 \| ZNF501 \| 1.535 \| DISEASES 148266 \| ZNF569 \| 1.507 \| DISEASES 148103 \| ZNF599 \| 3.622 \| DISEASES 284390 \| ZNF763 \| 1.535 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1040
Disease	hypospadias
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:40) HP:0000041 \| Chordee \| 23 HP:0000028 \| Cryptorchidism \| 12 HP:0100600 \| Prepenile scrotum \| 5 HP:0000054 \| Short penis \| 3 HP:0030260 \| Microphallus \| 2 HP:0100790 \| Hernia \| 2 HP:0100548 \| Exstrophy \| 2 HP:0000048 \| Bifid scrotum \| 2 HP:0001511 \| Prenatal onset growth retardation \| 2 HP:0000011 \| Neurogenic bladder \| 2 HP:0001518 \| Small for gestational age \| 2 HP:0008689 \| Bilateral cryptorchidism \| 2 HP:0000023 \| Inguinal hernia \| 2 HP:0001513 \| Obesity \| 1 HP:0000969 \| Dropsy \| 1 HP:0000078 \| Genital abnormalities \| 1 HP:0000316 \| Increased distance between eye sockets \| 1 HP:0008221 \| Enlarged adrenal glands \| 1 HP:0000119 \| Genitourinary abnormality \| 1 HP:0000083 \| Renal insufficiency \| 1 HP:0010442 \| Polydactyly \| 1 HP:0000835 \| Hypoplastic adrenal glands \| 1 HP:0000076 \| Vesicoureteric reflux \| 1 HP:0000175 \| Palatoschisis \| 1 HP:0004325 \| Low body weight \| 1 HP:0000846 \| Hypoadrenalism \| 1 HP:0000010 \| Frequent urinary tract infections \| 1 HP:0008071 \| Maternal hypertension \| 1 HP:0008258 \| Congenital adrenal hyperplasia \| 1 HP:0008244 \| Congenital adrenal gland hypoplasia \| 1 HP:0002575 \| Tracheoesophageal fistula \| 1 HP:0000020 \| Bladder incontinence \| 1 HP:0100699 \| Scarring \| 1 HP:0000771 \| Gynaecomastia \| 1 HP:0001004 \| Lymphatic obstruction \| 1 HP:0100602 \| Pre-eclampsia \| 1 HP:0002036 \| Hiatus hernia \| 1 HP:0000133 \| Mixed gonadal dysgenesis \| 1 HP:0000039 \| Epispadias \| 1 HP:0000089 \| Small kidneys \| 1

Disease ID	1040
Disease	hypospadias
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

Text Mining Genotype(Total 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.)

Disease ID	1040
Disease	hypospadias
Case	(Waiting for update.)