Abnormal oral cavity morphology

0000163

Normal Case/Contol ^ⓘ

Sibling Case/Control ^ⓘ

Links

Sex Split

Interactive Plot

Statistics

Case	Control
97994	362200

Phenotype Definition

Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth. [HPO:probinson]

Top SNP Information

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds ratio
chr6:396321	rs12203592	IRF4	C>T	44441	156764	92.63	6.303e-22	1.06
chr6:421281	rs62389423	-	G>A	36223	127813	72.93	1.342e-17	1.057
chr11:44843134	rs11038167	TSPAN18	A>C	1897	8552	62.2	3.099e-15	0.8181
chr1:169510139	rs13306334	F5	G>A	2158	9450	51.28	8.018e-13	0.8423
chr13:74144529	rs9573252	-	C>G	4061	16983	50.81	1.015e-12	0.8819
chr5:95194445	rs57525142	-	G>A	5150	21211	49.83	1.678e-12	0.8949
chr3:181586376	rs10937067	-	G>A	2548	10978	49.35	2.136e-12	0.8561
chr16:30628333	rs12447859	ZNF689	G>A	2477	10622	48.11	4.028e-12	0.8559
chr6:170602429	rs17860704	DLL1	T>C	2192	9526	47.42	5.717e-12	0.8489
chr6:93667780	rs9363020	-	G>A	2252	9739	45.84	1.28e-11	0.853
chr2:26113913	rs78404020	-	A>G	2621	11196	45.18	1.8e-11	0.8636
chr1:54009583	rs41363049	GLIS1	C>T	2462	10537	43.66	3.898e-11	0.8618
chr2:108088349	rs2377892	-	G>A	2663	11331	43.51	4.217e-11	0.8669
chr15:47590746	rs72623947	SEMA6D	C>T	4927	20168	42.41	7.401e-11	0.9006
chr9:87887178	rs2031823	-	T>G	3282	13745	42.04	8.934e-11	0.8808
chr17:38489170	rs2715554	RARA	A>G	31100	110661	41.4	1.238e-10	1.046
chr17:38364764	rs55673000	-	C>T	32328	115155	40.77	1.708e-10	1.045
chr18:77563334	rs11665567	-	G>A	43784	156981	40.3	2.178e-10	1.039
chr16:30823047	rs4889490	-	G>T	77965	294035	39.56	3.183e-10	0.9684
chr1:212556551	rs3754142	PACC1	A>G	3487	14463	37.99	7.12e-10	0.8894
chr6:396321	rs12203592	IRF4	C>T	43876	155039	86.08	1.73e-20	1.059
chr6:421281	rs62389423	-	G>A	35695	126170	67.08	2.603e-16	1.056
chr17:38364764	rs55673000	-	C>T	30787	109677	38.58	5.249e-10	1.045
chr17:38489170	rs2715554	RARA	A>G	30325	108077	37.19	1.073e-09	1.044
chr18:77563334	rs11665567	-	G>A	41917	150589	33.75	6.265e-09	1.037
chr6:475489	rs12210050	-	C>T	40514	145482	32.91	9.635e-09	1.037
chr7:114015707	rs12705960	FOXP2	A>C	96328	350804	32.19	1.397e-08	1.029
chr16:30823047	rs4889490	-	G>T	75156	282679	29.0	7.228e-08	0.9722
chr13:58265596	rs9597588	PCDH17	A>G	45467	163893	28.64	8.715e-08	1.033
chr7:89734282	rs39203	-	A>G	31924	114476	27.53	1.55e-07	1.037
chr17:38544624	rs2715555	-	G>A	28550	102154	27.53	1.543e-07	1.039
chr13:59808492	rs7985532	-	G>A	50012	189083	27.43	1.631e-07	0.9699
chr7:114223723	rs1229761	FOXP2	A>C	64858	244258	27.38	1.672e-07	0.9721
chr4:140867514	rs797090	MAML3	A>G	71555	269123	27.25	1.787e-07	0.9728
chr16:30566747	rs17850402	ZNF764	G>A	20002	71073	27.03	2.003e-07	1.045
chr16:30536918	rs10871453	ZNF768	C>G	79595	289699	26.87	2.177e-07	1.027
chr18:77573548	rs4799088	-	A>G	55375	200510	26.39	2.786e-07	1.03
chr6:31465030	rs6922431	MICB	T>C	9501	37198	26.35	2.85e-07	0.9413
chr16:30546488	rs6565191	ZNF747	G>A	79185	288026	26.35	2.849e-07	1.027
chr7:114457983	rs73212672	-	G>A	15944	61545	26.11	3.225e-07	0.9537

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds ratio
chr2:475836	rs1543065	-	G>A	4997	36	26.6	2.508e-07	0.4229
chr9:94561065	rs4744102	ROR2	T>C	10346	61	25.9	3.598e-07	0.5099
chr14:30579180	rs17421265	PRKD1	A>G	5082	36	25.62	4.152e-07	0.429
chr3:192776795	rs62287096	-	A>G	2511	22	25.02	5.678e-07	0.3529
chr9:94570125	rs7867961	ROR2	T>C	10031	59	24.29	8.281e-07	0.5156
chr9:79618260	rs75637560	-	G>A	2395	21	24.1	9.141e-07	0.3516
chr3:82341280	rs74429833	-	C>A	5914	39	22.82	1.776e-06	0.462
chr5:140552585	rs28470552	PCDHB7	G>C	4119	30	22.5	2.097e-06	0.422
chr1:166332862	rs16856988	-	C>T	3007	24	22.43	2.178e-06	0.3858
chr1:26008164	rs78776590	MAN1C1	T>C	31143	141	21.41	3.713e-06	0.6458
chr14:72478868	rs8017799	RGS6	A>G	35696	156	21.05	4.463e-06	0.6568
chr4:38568852	rs75707561	-	G>A	3480	26	20.88	4.878e-06	0.4113
chr3:197326569	rs56080156	-	T>C	3484	26	20.81	5.079e-06	0.4119
chr6:47273038	rs80272453	TNFRSF21	A>G	4287	30	20.29	6.639e-06	0.4397
chr18:2035785	rs78974968	-	A>G	3687	27	20.28	6.678e-06	0.4225
chr19:30325913	rs117826546	-	C>T	4098	29	20.2	6.973e-06	0.435
chr9:13948119	rs12343093	-	A>G	4512	31	20.11	7.318e-06	0.4466
chr8:67433690	rs72652776	-	G>A	2434	20	19.82	8.521e-06	0.3769
chr5:140579367	rs917535	PCDHB11	G>A	3975	28	19.53	9.895e-06	0.435
chr9:83579566	rs727434	-	C>A	28238	128	19.51	1.001e-05	0.6462
chr9:94561065	rs4744102	ROR2	T>C	7229	51	36.44	1.576e-09	0.4235
chr9:94570125	rs7867961	ROR2	T>C	7934	52	29.98	4.364e-08	0.46
chr2:475836	rs1543065	-	G>A	4898	36	28.27	1.053e-07	0.4118
chr4:38568852	rs75707561	-	G>A	3039	25	25.34	4.817e-07	0.3712
chr9:79618260	rs75637560	-	G>A	2352	21	25.25	5.035e-07	0.3433
chr3:192776795	rs62287096	-	A>G	2371	21	24.63	6.953e-07	0.3476
chr14:72478868	rs8017799	RGS6	A>G	32642	147	23.76	1.091e-06	0.6315
chr1:26008164	rs78776590	MAN1C1	T>C	29152	135	23.64	1.162e-06	0.6249
chr3:197326569	rs56080156	-	T>C	3380	26	22.61	1.985e-06	0.3972
chr14:30579180	rs17421265	PRKD1	A>G	4968	34	22.38	2.233e-06	0.4423
chr15:33855952	rs1435122	RYR3	A>C	27715	127	21.38	3.768e-06	0.6327
chr18:2035785	rs78974968	-	A>G	3625	27	21.37	3.783e-06	0.4131
chr6:47273038	rs80272453	TNFRSF21	A>G	4224	30	21.32	3.886e-06	0.4307
chr5:140552585	rs28470552	PCDHB7	G>C	3289	25	20.96	4.683e-06	0.4037
chr8:5464976	rs7841146	-	T>G	11072	61	20.88	4.902e-06	0.5441
chr8:67433690	rs72652776	-	G>A	2390	20	20.82	5.051e-06	0.3681
chr3:82341280	rs74429833	-	C>A	5723	37	20.71	5.338e-06	0.4695
chr2:173444669	rs78435708	PDK1	C>T	2937	23	20.63	5.563e-06	0.3927
chr1:15359040	rs191554302	KAZN	C>A	4516	31	20.07	7.454e-06	0.4464
chr21:42852435	rs61735789	TMPRSS2	G>A	3162	24	19.97	7.86e-06	0.4053

Associated Diseases ^ⓘ

ID	Name	Top Correlation
ICD: F101	Harmful use	2/20
ICD: F103	Withdrawal state	2/20
ICD: J448	Other specified chronic obstructive pulmonary disease	2/20
ICD: L570	Actinic keratosis	2/20
ICD: L814	Other melanin hyperpigmentation	1/20
ICD: N86	Erosion and ectropion of cervix uteri	1/20
ICD: Y836	Removal of other organ (partial) (total)	1/20

ID	Name	Top Correlation
ICD-10: A020	Salmonella gastro-enteritis	0/20
ICD-10: B009	Herpesviral infection, unspecified	0/20
ICD-10: B24	Unspecified human immunodeficiency virus [HIV] disease	0/20
ICD-10: B349	Viral infection, unspecified	0/20
ICD-10: B370	Candidal stomatitis	0/20
ICD-10: B378	Candidiasis of other sites	0/20
ICD-10: B379	Candidiasis, unspecified	0/20
ICD-10: B99	Other and unspecified infectious diseases	0/20
ICD-10: C01	Malignant neoplasm of base of tongue	0/20
ICD-10: C021	Border of tongue	0/20
ICD-10: C029	Tongue, unspecified	0/20
ICD-10: C07	Malignant neoplasm of parotid gland	0/20
ICD-10: C099	Tonsil, unspecified	0/20
ICD-10: C320	Glottis	0/20
ICD-10: C440	Skin of lip	0/20
ICD-10: C772	Intra-abdominal lymph nodes	0/20
ICD-10: C80	Malignant neoplasm without specification of site	0/20
ICD-10: C838	Other types of diffuse non-Hodgkin's lymphoma	0/20
ICD-10: D101	Tongue	0/20
ICD-10: D110	Parotid gland	0/20
ICD-10: D130	Oesophagus	0/20
ICD-10: D170	Benign lipomatous neoplasm of skin and subcutaneous tissue of head, face and neck	0/20
ICD-10: D171	Benign lipomatous neoplasm of skin and subcutaneous tissue of trunk	0/20
ICD-10: D172	Benign lipomatous neoplasm of skin and subcutaneous tissue of limbs	0/20
ICD-10: D173	Benign lipomatous neoplasm of skin and subcutaneous tissue of other and unspecified sites	0/20
ICD-10: D175	Benign lipomatous neoplasm of intra-abdominal organs	0/20
ICD-10: D176	Benign lipomatous neoplasm of spermatic cord	0/20
ICD-10: D177	Benign lipomatous neoplasm of other sites	0/20
ICD-10: D179	Benign lipomatous neoplasm, unspecified	0/20
ICD-10: D230	Skin of lip	0/20
ICD-10: D370	Lip, oral cavity and pharynx	0/20
ICD-10: D510	Vitamin B12 deficiency anaemia due to intrinsic factor deficiency	0/20
ICD-10: D519	Vitamin B12 deficiency anaemia, unspecified	0/20
ICD-10: D62	Acute posthaemorrhagic anaemia	0/20
ICD-10: D759	Disease of blood and blood-forming organs, unspecified	0/20
ICD-10: E079	Disorder of thyroid, unspecified	0/20
ICD-10: F112	Dependence syndrome	0/20
ICD-10: F121	Harmful use	0/20
ICD-10: F171	Harmful use	0/20
ICD-10: F172	Dependence syndrome	0/20
ICD-10: H021	Ectropion of eyelid	0/20
ICD-10: H023	Blepharochalasis	0/20
ICD-10: I479	Paroxysmal tachycardia, unspecified	0/20
ICD-10: I693	Sequelae of cerebral infarction	0/20
ICD-10: I859	Oesophageal varices without bleeding	0/20
ICD-10: J00	Acute nasopharyngitis [common cold]	0/20
ICD-10: J151	Pneumonia due to Pseudomonas	0/20
ICD-10: J343	Hypertrophy of nasal turbinates	0/20
ICD-10: J351	Hypertrophy of tonsils	0/20
ICD-10: J384	Oedema of larynx	0/20
ICD-10: J398	Other specified diseases of upper respiratory tract	0/20
ICD-10: J449	Chronic obstructive pulmonary disease, unspecified	0/20
ICD-10: K006	Disturbances in tooth eruption	0/20
ICD-10: K010	Embedded teeth	0/20
ICD-10: K011	Impacted teeth	0/20
ICD-10: K028	Other dental caries	0/20
ICD-10: K029	Dental caries, unspecified	0/20
ICD-10: K044	Acute apical periodontitis of pulpal origin	0/20
ICD-10: K045	Chronic apical periodontitis	0/20
ICD-10: K046	Periapical abscess with sinus	0/20
ICD-10: K047	Periapical abscess without sinus	0/20
ICD-10: K048	Radicular cyst	0/20
ICD-10: K049	Other and unspecified diseases of pulp and periapical tissues	0/20
ICD-10: K051	Chronic gingivitis	0/20
ICD-10: K053	Chronic periodontitis	0/20
ICD-10: K056	Periodontal disease, unspecified	0/20
ICD-10: K068	Other specified disorders of gingiva and edentulous alveolar ridge	0/20
ICD-10: K073	Anomalies of tooth position	0/20
ICD-10: K076	Temporomandibular joint disorders	0/20
ICD-10: K081	Loss of teeth due to accident, extraction or local periodontal disease	0/20
ICD-10: K083	Retained dental root	0/20
ICD-10: K089	Disorder of teeth and supporting structures, unspecified	0/20
ICD-10: K090	Developmental odontogenic cysts	0/20
ICD-10: K092	Other cysts of jaw	0/20
ICD-10: K108	Other specified diseases of jaws	0/20
ICD-10: K111	Hypertrophy of salivary gland	0/20
ICD-10: K112	Sialoadenitis	0/20
ICD-10: K115	Sialolithiasis	0/20
ICD-10: K116	Mucocele of salivary gland	0/20
ICD-10: K118	Other diseases of salivary glands	0/20
ICD-10: K119	Disease of salivary gland, unspecified	0/20
ICD-10: K120	Recurrent oral aphthae	0/20
ICD-10: K121	Other forms of stomatitis	0/20
ICD-10: K122	Cellulitis and abscess of mouth	0/20
ICD-10: K130	Diseases of lips	0/20
ICD-10: K132	Leukoplakia and other disturbances of oral epithelium, including tongue	0/20
ICD-10: K136	Irritative hyperplasia of oral mucosa	0/20
ICD-10: K137	Other and unspecified lesions of oral mucosa	0/20
ICD-10: K140	Glossitis	0/20
ICD-10: K148	Other diseases of tongue	0/20
ICD-10: K149	Disease of tongue, unspecified	0/20
ICD-10: K635	Polyp of colon	0/20
ICD-10: K768	Other specified diseases of liver	0/20
ICD-10: K929	Disease of digestive system, unspecified	0/20
ICD-10: L059	Pilonidal cyst without abscess	0/20
ICD-10: L270	Generalised skin eruption due to drugs and medicaments	0/20
ICD-10: L439	Lichen planus, unspecified	0/20
ICD-10: L578	Other skin changes due to chronic exposure to nonionising radiation	0/20
ICD-10: L819	Disorder of pigmentation, unspecified	0/20
ICD-10: L83	Acanthosis nigricans	0/20
ICD-10: M254	Effusion of joint	0/20
ICD-10: M350	Sicca syndrome [Sjogren]	0/20
ICD-10: M359	Systemic involvement of connective tissue, unspecified	0/20
ICD-10: M798	Other specified soft tissue disorders	0/20
ICD-10: M858	Other specified disorders of bone density and structure	0/20
ICD-10: M898	Other specified disorders of bone	0/20
ICD-10: N085	Glomerular disorders in systemic connective tissue disorders	0/20
ICD-10: N904	Leukoplakia of vulva	0/20
ICD-10: O996	Diseases of the digestive system complicating pregnancy, childbirth and the puerperium	0/20
ICD-10: R065	Mouth breathing	0/20
ICD-10: R066	Hiccough	0/20
ICD-10: R21	Rash and other nonspecific skin eruption	0/20
ICD-10: R238	Other and unspecified skin changes	0/20
ICD-10: R253	Fasciculation	0/20
ICD-10: R490	Dysphonia	0/20
ICD-10: T390	Salicylates	0/20
ICD-10: T884	Failed or difficult intubation	0/20
ICD-10: T885	Other complications of anaesthesia	0/20
ICD-10: Y834	Other reconstructive surgery	0/20
ICD-10: Y839	Surgical procedure, unspecified	0/20

Abnormal oral cavity morphology

0000163

Normal Case/Contol ⓘ

Sibling Case/Control ⓘ

Links

Statistics

Phenotype Definition

Top SNP Information Show Normal Table Show Sibling SNP

Associated Diseases ⓘ Shared SNP diseases No shared SNP diseases

Normal Case/Contol ^ⓘ

Sibling Case/Control ^ⓘ

Top SNP Information

Associated Diseases ^ⓘ