Abnormality of the pharynx

0000600

Normal Case/Contol ^ⓘ

Sibling Case/Control ^ⓘ

Links

Sex Split

Interactive Plot

Statistics

Case	Control
40600	419594

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
chr10:49451051	rs1623017	FRMPD2	C>A	1777	15223	51.73	6.363e-13	1.199
chr23:64367019	rs7064929	-	G>A	1820	15746	43.65	3.93e-11	1.18
chr13:19671629	rs35021688	-	C>T	5685	53435	40.54	1.925e-10	1.096
chr23:109653638	rs5942920	AMMECR1	G>A	1157	9714	38.59	5.23e-10	1.215
chr23:53347028	rs1547218	IQSEC2	T>C	3853	35400	37.85	7.648e-10	1.113
chr23:111065460	rs3027743	TRPC5	T>C	3402	31067	36.98	1.192e-09	1.119
chr23:67891077	rs7886230	STARD8	T>C	3864	35569	36.59	1.46e-09	1.111
chr23:110722596	rs73549358	-	C>T	1479	12776	36.0	1.971e-09	1.181
chr13:19661785	rs4770751	-	T>C	5558	52447	35.83	2.148e-09	1.091
chr23:63410110	rs61730681	AMER1	T>C	2421	21712	35.65	2.365e-09	1.139
chr3:188694749	rs710493	TPRG1	A>G	4152	38686	35.24	2.914e-09	1.104
chr23:63423664	rs5964740	AMER1	C>T	2415	21685	34.84	3.575e-09	1.138
chr23:106146349	rs5962774	MORC4	T>C	1159	9867	33.26	8.043e-09	1.198
chr18:19763011	rs3764962	GATA6	A>G	2347	21288	32.16	1.417e-08	1.133
chr23:142717383	rs73577386	SLITRK4	A>G	822	6800	31.68	1.816e-08	1.232
chr13:19664705	rs4770753	-	T>C	6068	57637	31.54	1.951e-08	1.082
chr23:153733911	rs5986987	-	C>G	1188	10193	31.16	2.372e-08	1.188
chr3:149925742	rs7629443	-	T>C	2037	18345	31.07	2.488e-08	1.141
chr23:110685534	rs16986503	-	C>T	1292	11191	30.54	3.268e-08	1.178
chr23:55985953	rs7885685	-	A>G	2959	27112	30.31	3.69e-08	1.115
chr13:19671629	rs35021688	-	C>T	4892	46692	29.81	4.764e-08	1.088
chr13:19661785	rs4770751	-	T>C	4900	46791	29.29	6.217e-08	1.087
chr2:127538313	rs11682400	-	A>G	39032	395159	28.78	8.111e-08	1.04
chr8:134473155	rs74381719	ST3GAL1	C>T	2167	24953	24.16	8.863e-07	0.8945
chr13:19664705	rs4770753	-	T>C	5312	51161	24.14	8.944e-07	1.076
chr9:25522690	rs1888887	-	A>G	35660	376055	23.32	1.369e-06	0.9648
chr13:19659081	rs4770748	-	G>A	6162	59900	22.59	2.004e-06	1.068
chr5:165758259	rs1392381	-	A>G	18271	194943	22.08	2.61e-06	0.9595
chr2:127576875	rs10181296	-	T>G	28243	284937	21.74	3.125e-06	1.037
chr3:132058350	rs11706011	ACP3	T>A	13275	132065	20.92	4.781e-06	1.047
chr6:4447242	rs13195598	-	A>G	12117	130294	20.86	4.953e-06	0.954
chr1:170699149	rs12409048	PRRX1	G>A	21384	214993	20.27	6.72e-06	1.038
chr13:19688678	rs78901494	-	C>T	1888	17518	20.24	6.829e-06	1.117
chr9:91984164	rs11507706	SEMA4D	G>A	7228	70819	20.08	7.421e-06	1.06
chr1:170701453	rs17551298	PRRX1	G>A	22651	228234	20.01	7.714e-06	1.037
chr8:17509993	rs66717058	MTUS1	C>T	7387	72429	20.0	7.751e-06	1.059
chr4:733630	rs77052907	PCGF3	G>A	2011	18739	19.92	8.094e-06	1.112
chr23:123250497	rs5958390	STAG2	A>G	15207	151166	19.68	9.148e-06	1.044
chr2:127547797	rs6431179	-	A>G	31670	334025	19.46	1.029e-05	0.9673
chr25:463983	rs7891378	-	G>T	9690	95817	19.32	1.106e-05	1.051

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds ratio
chr13:19661785	rs4770751	-	T>C	4900	30765	31.3	2.216e-08	1.093
chr13:19671629	rs35021688	-	C>T	4892	30730	30.96	2.634e-08	1.092
chr13:19664705	rs4770753	-	T>C	5312	33593	27.5	1.568e-07	1.083
chr2:127538313	rs11682400	-	A>G	39032	261240	25.36	4.766e-07	1.039
chr13:19659081	rs4770748	-	G>A	6162	39448	23.71	1.123e-06	1.072
chr8:134473155	rs74381719	ST3GAL1	C>T	2167	16492	23.5	1.25e-06	0.8938
chr13:19688678	rs78901494	-	C>T	1888	11445	23.36	1.346e-06	1.129
chr9:25522690	rs1888887	-	A>G	35660	248378	22.19	2.475e-06	0.9649
chr2:127576875	rs10181296	-	T>G	28243	188196	20.78	5.16e-06	1.037
chr1:35463373	rs7515263	AC114490.2	C>T	2225	16777	20.04	7.584e-06	0.9027
chr2:127547797	rs6431179	-	A>G	31670	220797	19.91	8.114e-06	0.9662
chr6:4447242	rs13195598	-	A>G	12117	86052	19.83	8.445e-06	0.9542
chr5:165758259	rs1392381	-	A>G	18271	128624	19.63	9.402e-06	0.961
chr2:223181783	rs79157569	-	A>C	1554	9413	19.47	1.022e-05	1.13
chr2:223314000	rs114620248	SGPP2	T>G	1796	10985	19.18	1.192e-05	1.119
chr1:170699149	rs12409048	PRRX1	G>A	21384	142061	18.97	1.325e-05	1.038
chr20:13183918	rs1407332	-	A>G	3261	20539	18.93	1.358e-05	1.087
chr8:17509993	rs66717058	MTUS1	C>T	7387	47875	18.61	1.604e-05	1.058
chr16:60755539	rs1991038	-	C>T	8871	63388	18.48	1.717e-05	0.9496
chr4:183794919	rs17074165	-	T>C	3166	19935	18.42	1.767e-05	1.087

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