Abnormality of the pharynx

0000600

Female ^ⓘ

Male ^ⓘ

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Interactive plots

Statistics

Female Case	Female Control	% Female
22381	227476	55%

Male Case	Male Control	% Male
18219	192118	45%

Phenotype Definition

An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly. [HPO:probinson]

Phenotype Comment

The pharynx is tubular structure extending from base of skull superiorly\nto esophageal inlet inferiorly, and is composed of three distinct areas: the nasopharynx, the oropharynx, and the hypopharynx, with the pharyngeal walls being composed of the superior, middle, and inferior pharyngeal constrictor muscles. It is part of the digestive system and of the conducting zone of the respiratory system.

Top SNP Information

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds ratio
chr15:45761193	rs2467861	-	G>A	813	5930	84.16	4.552e-20	1.411
chr10:49451051	rs1623017	FRMPD2	C>A	1099	8468	69.5	7.658e-17	1.309
chr23:64367019	rs7064929	-	G>A	1419	11430	62.74	2.357e-15	1.253
chr10:108754749	rs11193154	-	C>T	970	7669	58.93	1.633e-14	1.302
chr10:108754043	rs7919051	-	C>T	994	7919	56.89	4.603e-14	1.292
chr1:159174683	rs2814778	ACKR1	T>C	1225	9812	56.78	4.866e-14	1.26
chr10:124948232	rs73362778	-	G>A	822	6388	56.51	5.591e-14	1.324
chr21:25714025	rs2211958	-	G>A	944	7477	56.41	5.884e-14	1.299
chr15:45694768	rs1834686	SPATA5L1	G>T	690	5122	56.34	6.105e-14	1.357
chr15:45695612	rs1346265	SPATA5L1	C>T	773	5850	55.35	1.011e-13	1.331
chr11:4643496	rs10768125	-	G>A	966	7700	55.0	1.204e-13	1.291
chr20:52504385	rs6097654	-	C>T	771	5974	54.04	1.969e-13	1.327
chr17:29375177	rs6505228	-	A>G	1402	11467	53.7	2.338e-13	1.234
chr11:4643101	rs10836365	-	G>A	892	7062	53.64	2.413e-13	1.3
chr9:117110112	Affx-52344420	AKNA	T>TG	947	7404	53.52	2.558e-13	1.29
chr18:9536315	rs14336	RALBP1	A>C	850	6579	51.71	6.424e-13	1.302
chr17:29298304	rs7225888	RNF135	C>G	1232	9987	51.16	8.527e-13	1.244
chr15:45556163	rs8023604	SLC28A2	T>C	839	6494	51.04	9.032e-13	1.302
chr17:29290106	rs55861543	-	C>T	1276	10393	50.99	9.285e-13	1.239
chr10:77357027	rs7894847	-	C>T	979	7896	50.83	1.007e-12	1.276
chr1:118518464	rs2148031	SPAG17	T>G	18228	190070	27.82	1.334e-07	0.9471
chr16:60755539	rs1991038	-	C>T	4753	51972	26.04	3.341e-07	0.9214
chr6:130350492	rs13191950	-	A>G	4224	40722	24.78	6.442e-07	1.089
chr11:126051380	rs79340868	-	G>A	1806	20645	24.19	8.712e-07	0.8841
chr18:31396982	rs4638656	-	A>G	10479	101981	23.08	1.556e-06	1.058
chr2:127576875	rs10181296	-	T>G	15729	154641	23.05	1.577e-06	1.051
chr14:73726385	rs2293801	PAPLN	T>C	7916	76478	21.68	3.216e-06	1.062
chr7:114015707	rs12705960	FOXP2	A>C	22191	220398	20.56	5.774e-06	1.046
chr13:19661785	rs4770751	-	T>C	2736	25479	20.08	7.424e-06	1.097
chr1:5790320	rs72643047	-	G>C	6204	59652	19.93	8.027e-06	1.066
chr1:118507893	rs6678671	WDR3	T>C	21756	216198	19.81	8.539e-06	1.046
chr10:3143673	rs41288715	PFKP	G>A	1060	12398	19.8	8.607e-06	0.8659
chr12:127669780	rs79830048	-	G>A	684	5817	19.75	8.812e-06	1.198
chr16:73369408	rs12919557	ZFHX3	C>T	1779	16221	19.6	9.538e-06	1.119
chr6:24703810	rs114898621	ACOT13	G>A	739	6347	19.09	1.246e-05	1.187
chr15:94022870	rs72758041	-	C>T	948	8312	18.86	1.406e-05	1.162
chr3:74530348	rs35204712	CNTN3	T>C	21874	227125	18.47	1.724e-05	0.9583
chr3:189459697	rs67962917	TP63	T>C	2248	20846	18.08	2.121e-05	1.102
chr5:37775861	rs2973069	-	G>A	11357	111278	18.03	2.17e-05	1.05
chr2:147146494	rs76325692	-	C>A	1478	16816	17.98	2.229e-05	0.8896

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds ratio
chr12:19371221	rs79834800	PLEKHA5	A>G	789	6797	28.24	1.074e-07	1.223
chr12:19344476	rs117787503	PLEKHA5	A>G	825	7201	26.01	3.397e-07	1.208
chr16:70590898	rs116924445	SF3B3	C>T	740	6423	24.53	7.321e-07	1.214
chr13:19664705	rs4770753	-	T>C	2788	26562	24.33	8.105e-07	1.107
chr1:120469077	rs17258579	NOTCH2	T>C	5155	57767	23.46	1.273e-06	0.9272
chr3:29811334	rs12489960	RBMS3	G>T	7113	70863	22.02	2.703e-06	1.067
chr19:49321911	rs8110610	HSD17B14	G>A	8723	87524	20.6	5.669e-06	1.06
chr8:20005716	rs903997	SLC18A1	C>G	9155	92013	20.16	7.122e-06	1.058
chr5:116188253	rs112495726	-	G>A	1001	12140	19.84	8.412e-06	0.8622
chr2:223181783	rs79157569	-	A>C	829	7412	19.69	9.086e-06	1.178
chr23:22544755	rs56792135	-	A>G	3179	30928	19.64	9.332e-06	1.094
chr8:20001995	rs7003858	-	A>G	12791	129807	19.58	9.639e-06	1.051
chr12:31522934	rs3741874	-	C>T	7361	73544	19.42	1.049e-05	1.062
chr4:105894642	rs79825206	-	A>G	963	8725	19.32	1.105e-05	1.163
chr14:89747473	rs7147341	FOXN3	C>T	2985	28887	19.17	1.196e-05	1.092
chr22:17412806	rs5992590	-	T>C	10287	112219	18.94	1.348e-05	0.949
chr6:4447242	rs13195598	-	A>G	5471	60782	18.85	1.413e-05	0.936
chr11:85235298	rs117907111	DLG2	T>C	1766	16684	18.7	1.527e-05	1.117
chr19:49271583	rs62132803	-	C>T	11298	114410	18.7	1.53e-05	1.052
chr16:70445583	rs117136893	ST3GAL2	T>C	651	5720	18.69	1.541e-05	1.197
chr12:19371221	rs79834800	PLEKHA5	A>G	774	6713	27.1	1.936e-07	1.221
chr16:70590898	rs116924445	SF3B3	C>T	734	6361	25.95	3.499e-07	1.222
chr12:19344476	rs117787503	PLEKHA5	A>G	811	7105	25.81	3.774e-07	1.209
chr1:120469077	rs17258579	NOTCH2	T>C	5010	56347	22.32	2.311e-06	0.9277
chr3:29811334	rs12489960	RBMS3	G>T	6728	67316	21.04	4.509e-06	1.067
chr6:4447242	rs13195598	-	A>G	5307	59438	20.84	4.989e-06	0.9317
chr13:19664705	rs4770753	-	T>C	2442	23393	20.83	5.012e-06	1.106
chr16:70445583	rs117136893	ST3GAL2	T>C	647	5668	20.13	7.226e-06	1.206
chr5:165758259	rs1392381	-	A>G	8091	89280	19.88	8.235e-06	0.943
chr6:170463932	rs12215518	-	G>A	4550	44958	19.75	8.805e-06	1.077
chr8:122360212	rs75913038	-	C>T	1569	14743	19.7	9.071e-06	1.128
chr19:49321911	rs8110610	HSD17B14	G>A	8486	85610	19.41	1.056e-05	1.059
chr21:35407705	rs11911902	-	C>T	6320	63245	19.23	1.159e-05	1.066
chr15:96798908	rs2589247	-	C>A	17333	187406	19.22	1.164e-05	0.9529
chr8:20005716	rs903997	SLC18A1	C>G	8546	86243	19.18	1.192e-05	1.058
chr2:223181783	rs79157569	-	A>C	740	6598	19.16	1.202e-05	1.187
chr8:20001995	rs7003858	-	A>G	11932	121547	19.07	1.263e-05	1.052
chr4:105894642	rs79825206	-	A>G	933	8485	19.06	1.268e-05	1.165
chr5:116188253	rs112495726	-	G>A	981	11922	18.81	1.446e-05	0.8642
chr10:15499560	rs1925809	-	G>A	14085	152947	18.74	1.495e-05	0.9524

Associated Diseases ^ⓘ

ID	Name	Top Correlation
ICD: J039	Acute tonsillitis, unspecified	1/20
ICD: M549	Dorsalgia, unspecified	6/20

ID	Name	Top Correlation
ICD-10: A045	Campylobacter enteritis	0/20
ICD-10: A048	Other specified bacterial intestinal infections	0/20
ICD-10: A09	Diarrhoea and gastro-enteritis of presumed infectious origin	0/20
ICD-10: A491	Streptococcal infection, unspecified	0/20
ICD-10: B349	Viral infection, unspecified	0/20
ICD-10: C099	Tonsil, unspecified	0/20
ICD-10: D140	Middle ear, nasal cavity and accessory sinuses	0/20
ICD-10: E789	Disorder of lipoprotein metabolism, unspecified	0/20
ICD-10: G553	Nerve root and plexus compressions in other dorsopathies	0/20
ICD-10: J019	Acute sinusitis, unspecified	0/20
ICD-10: J029	Acute pharyngitis, unspecified	0/20
ICD-10: J040	Acute laryngitis	0/20
ICD-10: J069	Acute upper respiratory infection, unspecified	0/20
ICD-10: J209	Acute bronchitis, unspecified	0/20
ICD-10: J312	Chronic pharyngitis	0/20
ICD-10: J328	Other chronic sinusitis	0/20
ICD-10: J343	Hypertrophy of nasal turbinates	0/20
ICD-10: J350	Chronic tonsillitis	0/20
ICD-10: J351	Hypertrophy of tonsils	0/20
ICD-10: J36	Peritonsillar abscess	0/20
ICD-10: J392	Other diseases of pharynx	0/20
ICD-10: J398	Other specified diseases of upper respiratory tract	0/20
ICD-10: J40	Bronchitis, not specified as acute or chronic	0/20
ICD-10: K073	Anomalies of tooth position	0/20
ICD-10: L032	Cellulitis of face	0/20
ICD-10: L088	Other specified local infections of skin and subcutaneous tissue	0/20
ICD-10: L089	Local infection of skin and subcutaneous tissue, unspecified	0/20
ICD-10: L988	Other specified disorders of skin and subcutaneous tissue	0/20
ICD-10: M500	Cervical disk disorder with myelopathy	0/20
ICD-10: N760	Acute vaginitis	0/20
ICD-10: R070	Pain in throat	0/20
ICD-10: R13	Dysphagia	0/20
ICD-10: T885	Other complications of anaesthesia	0/20