Respiratory failure

0002878

Normal Case/Contol ^ⓘ

Sibling Case/Control ^ⓘ

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Sex Split

Interactive Plot

Statistics

Case	Control
5184	455010

Phenotype Definition

A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. [HPO:probinson]

Phenotype Comment

Respiratory failure is classified as type 1 with hypoxemia (arterial partial pressure of oxygen less than 60 mmHg) without hypercapnea, and type 2 with hypoxemia in the present of hypercapnea (partial pressure of carbon dioxide over 50 mmHg).

Top SNP Information

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds ratio
chr15:78783277	rs11858836	IREB2	G>A	3639	298756	24.5	7.413e-07	1.106
chr2:205466544	rs114716886	PARD3B	A>G	236	15087	24.21	8.639e-07	1.384
chr15:78907656	rs6495308	CHRNA3	T>C	2398	230027	23.94	9.948e-07	0.8927
chr1:107546375	rs17496332	-	A>G	3885	320705	23.02	1.604e-06	1.101
chr15:78882925	rs16969968	CHRNA5	G>A	3757	309632	22.98	1.638e-06	1.102
chr7:157679332	rs10949666	PTPRN2	T>C	4605	426667	22.93	1.676e-06	0.911
chr15:78857986	rs55781567	CHRNA5	C>G	3848	317467	22.89	1.719e-06	1.101
chr15:78868636	rs72740964	CHRNA5	G>A	3720	305555	22.54	2.057e-06	1.101
chr3:173601315	rs4337656	NLGN1	A>C	614	44698	22.37	2.25e-06	1.218
chr3:173644548	rs4462998	NLGN1	G>C	590	42844	22.35	2.268e-06	1.223
chr4:100239319	rs1229984	ADH1B	C>T	258	30218	22.15	2.515e-06	0.7432
chr12:102376486	rs12581964	DRAM1	C>T	471	33463	21.93	2.834e-06	1.248
chr15:78806023	rs8034191	HYKK	T>C	3823	315594	21.84	2.965e-06	1.099
chr15:78878541	rs951266	CHRNA5	G>A	3756	309820	21.58	3.401e-06	1.099
chr15:78814046	rs10519203	HYKK	A>G	3878	320531	21.48	3.569e-06	1.098
chr6:31060219	rs2535296	-	A>G	2173	174516	21.22	4.101e-06	1.117
chr1:118094225	rs17037394	-	G>T	1369	135146	21.2	4.133e-06	0.8749
chr18:3802724	rs56365340	DLGAP1	G>A	3339	313481	21.19	4.162e-06	0.9085
chr15:78802869	rs9788721	HYKK	T>C	3946	326663	20.82	5.05e-06	1.096
chr15:78774271	rs8042238	IREB2	T>C	4104	381055	20.81	5.079e-06	0.9135
chr12:102376486	rs12581964	DRAM1	C>T	452	31154	27.17	1.86e-07	1.286
chr2:205466544	rs114716886	PARD3B	A>G	223	13930	26.11	3.222e-07	1.415
chr1:107546375	rs17496332	-	A>G	3738	307477	23.89	1.02e-06	1.106
chr15:78774271	rs8042238	IREB2	T>C	3741	349420	23.78	1.082e-06	0.9046
chr15:78783277	rs11858836	IREB2	G>A	3533	289833	23.66	1.15e-06	1.107
chr15:78789488	rs13180	IREB2	T>C	3741	349519	23.59	1.189e-06	0.9049
chr15:78754000	rs1964678	IREB2	G>A	3725	347728	23.21	1.45e-06	0.9056
chr3:173728905	rs291924	NLGN1	G>C	750	55494	23.04	1.583e-06	1.201
chr15:78907656	rs6495308	CHRNA3	T>C	2170	208362	22.5	2.105e-06	0.8913
chr15:78882925	rs16969968	CHRNA5	G>A	3648	300296	22.49	2.115e-06	1.103
chr15:78898723	rs12914385	CHRNA3	C>T	4184	346669	22.47	2.138e-06	1.1
chr15:78868636	rs72740964	CHRNA5	G>A	3611	296255	22.09	2.607e-06	1.102
chr15:78896547	rs938682	CHRNA3	A>G	2170	208274	22.08	2.61e-06	0.8922
chr7:157679332	rs10949666	PTPRN2	T>C	4282	396411	21.47	3.59e-06	0.9112
chr15:78857986	rs55781567	CHRNA5	C>G	3683	303692	21.47	3.6e-06	1.1
chr15:78878541	rs951266	CHRNA5	G>A	3637	299435	21.41	3.706e-06	1.101
chr15:78894339	rs1051730	CHRNA3	G>A	3638	299942	21.33	3.867e-06	1.1
chr15:78867482	rs17486278	CHRNA5	A>C	3649	300572	21.32	3.888e-06	1.1
chr3:173644548	rs4462998	NLGN1	G>C	579	42123	21.2	4.141e-06	1.219
chr15:78896129	rs1317286	CHRNA3	A>G	3669	302614	21.14	4.262e-06	1.1

Location	SNP	Gene	Ref>Alt	Alt in Case	Alt in Control	Chi-square	P-value	Odds ratio
chr3:173728905	rs291924	NLGN1	G>C	750	1368	23.91	1.008e-06	1.258
chr2:205466544	rs114716886	PARD3B	A>G	223	337	22.55	2.042e-06	1.508
chr6:23193451	rs75292923	-	C>T	504	1439	21.34	3.839e-06	0.7826
chr8:22596518	rs7841894	PEBP4	C>T	2068	5172	19.85	8.356e-06	0.878
chr20:58172149	rs118170349	PHACTR3	T>C	176	579	19.62	9.433e-06	0.682
chr3:173601315	rs4337656	NLGN1	A>C	600	1092	19.22	1.165e-05	1.257
chr19:43301695	rs10416990	PSG8	T>C	135	462	18.45	1.746e-05	0.6568
chr20:10003446	rs926983	ANKEF1	G>T	152	223	18.25	1.934e-05	1.566
chr16:7922761	rs75660038	-	A>T	174	565	18.0	2.206e-05	0.6911
chr23:151134108	rs73241843	GABRE	C>T	752	1363	17.94	2.275e-05	1.224
chr9:112097299	rs34992361	-	A>G	1376	2731	17.89	2.344e-05	1.161
chr15:62901856	rs8043142	TLN2	A>G	2228	5531	17.7	2.582e-05	0.8872
chr18:6110865	rs78598167	L3MBTL4	C>T	226	360	17.52	2.842e-05	1.429
chr7:157679332	rs10949666	PTPRN2	T>C	4282	10256	17.42	2.998e-05	0.905
chr3:173644548	rs4462998	NLGN1	G>C	579	1063	17.35	3.115e-05	1.247
chr8:38225429	rs72630616	NSD3	G>C	221	351	17.34	3.118e-05	1.432
chr6:5457827	rs9405834	FARS2	G>A	4322	9211	17.32	3.167e-05	1.106
chr8:2662135	rs1026378	-	G>A	866	2295	17.28	3.229e-05	0.8408
chr15:72066858	rs8042337	THSD4	C>A	4040	8605	16.96	3.814e-05	1.105
chr1:5550489	rs67853713	-	T>G	2226	5512	16.95	3.841e-05	0.8895

Associated Diseases ^ⓘ

ID	Name	Top Correlation
ICD: J441	Chronic obstructive pulmonary disease with acute exacerbation, unspecified	7/20
ICD: J969	Respiratory failure, unspecified	8/20

ID	Name	Top Correlation
ICD-10: J46	Status asthmaticus	0/20
ICD-10: J80	Adult respiratory distress syndrome	0/20
ICD-10: J960	Acute respiratory failure	0/20
ICD-10: J961	Chronic respiratory failure	0/20
ICD-10: R098	Other specified symptoms and signs involving the circulatory and respiratory systems	0/20