Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002841	HP:0002841	Recurrent fungal infections	0	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	.	75
HP:0002841	HP:0002841	Recurrent fungal infections	0	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0002841	HP:0002841	Recurrent fungal infections	0	AIRE CL E G H	326	360	ORPHA:3453	Autoimmune polyendocrinopathy type 1		92
HP:0002841	HP:0002841	Recurrent fungal infections	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0002841	HP:0002841	Recurrent fungal infections	0	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial		168
HP:0002841	HP:0002841	Recurrent fungal infections	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0002841	HP:0002841	Recurrent fungal infections	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0002841	HP:0002841	Recurrent fungal infections	0	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency	HP:0040283 - Occasional	223
HP:0002841	HP:0002841	Recurrent fungal infections	0	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0002841	HP:0002841	Recurrent fungal infections	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0002841	HP:0002841	Recurrent fungal infections	0	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0002841	HP:0002841	Recurrent fungal infections	0	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0002841	HP:0002841	Recurrent fungal infections	0	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0002841	HP:0002841	Recurrent fungal infections	0	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0002841	HP:0002841	Recurrent fungal infections	0	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0002841	HP:0002841	Recurrent fungal infections	0	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0002841	HP:0002841	Recurrent fungal infections	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0002841	HP:0002841	Recurrent fungal infections	0	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0002841	HP:0002841	Recurrent fungal infections	0	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis		1
HP:0002841	HP:0002841	Recurrent fungal infections	0	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis		1371
HP:0002841	HP:0002841	Recurrent fungal infections	0	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II	.	118
HP:0002841	HP:0002841	Recurrent fungal infections	0	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	118
HP:0002841	HP:0002841	Recurrent fungal infections	0	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0002841	HP:0002841	Recurrent fungal infections	0	CLEC7A CL E G H	64581	14558	OMIM:613108	CANDIDIASIS, FAMILIAL, 4; CANDF4		3
HP:0002841	HP:0002841	Recurrent fungal infections	0	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE		27
HP:0002841	HP:0002841	Recurrent fungal infections	0	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked		111
HP:0002841	HP:0002841	Recurrent fungal infections	0	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0002841	HP:0002841	Recurrent fungal infections	0	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome	.	94
HP:0002841	HP:0002841	Recurrent fungal infections	0	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency		94
HP:0002841	HP:0002841	Recurrent fungal infections	0	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0002841	HP:0002841	Recurrent fungal infections	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0002841	HP:0002841	Recurrent fungal infections	0	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0002841	HP:0002841	Recurrent fungal infections	0	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency		217
HP:0002841	HP:0002841	Recurrent fungal infections	0	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive	.	217
HP:0002841	HP:0002841	Recurrent fungal infections	0	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis		3
HP:0002841	HP:0002841	Recurrent fungal infections	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.	40
HP:0002841	HP:0002841	Recurrent fungal infections	0	GATA2 CL E G H	2624	4171	OMIM:614172	Immunodeficiency 21	.	137
HP:0002841	HP:0002841	Recurrent fungal infections	0	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis		2
HP:0002841	HP:0002841	Recurrent fungal infections	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0002841	HP:0002841	Recurrent fungal infections	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0002841	HP:0002841	Recurrent fungal infections	0	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis		1
HP:0002841	HP:0002841	Recurrent fungal infections	0	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis		38
HP:0002841	HP:0002841	Recurrent fungal infections	0	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis		3
HP:0002841	HP:0002841	Recurrent fungal infections	0	HPGD CL E G H	3248	5154	ORPHA:217059	Isolated congenital digital clubbing		55
HP:0002841	HP:0002841	Recurrent fungal infections	0	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0002841	HP:0002841	Recurrent fungal infections	0	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002841	HP:0002841	Recurrent fungal infections	0	IL12RB1 CL E G H	3594	5971	ORPHA:319552	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency		46
HP:0002841	HP:0002841	Recurrent fungal infections	0	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	46
HP:0002841	HP:0002841	Recurrent fungal infections	0	IL17F CL E G H	112744	16404	OMIM:613956	CANDIDIASIS, FAMILIAL, 6; CANDF6		14
HP:0002841	HP:0002841	Recurrent fungal infections	0	IL17RA CL E G H	23765	5985	OMIM:613953	Immunodeficiency 51		196
HP:0002841	HP:0002841	Recurrent fungal infections	0	IL17RC CL E G H	84818	18358	OMIM:616445	Candidiasis, familial, 9		4
HP:0002841	HP:0002841	Recurrent fungal infections	0	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0002841	HP:0002841	Recurrent fungal infections	0	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked	.	48
HP:0002841	HP:0002841	Recurrent fungal infections	0	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency		48
HP:0002841	HP:0002841	Recurrent fungal infections	0	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0002841	HP:0002841	Recurrent fungal infections	0	IL7R CL E G H	3575	6024	OMIM:608971	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive		94
HP:0002841	HP:0002841	Recurrent fungal infections	0	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0002841	HP:0002841	Recurrent fungal infections	0	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	4
HP:0002841	HP:0002841	Recurrent fungal infections	0	ITGB2 CL E G H	3689	6155	OMIM:116920	Leukocyte adhesion deficiency, type I		114
HP:0002841	HP:0002841	Recurrent fungal infections	0	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0002841	HP:0002841	Recurrent fungal infections	0	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis		3
HP:0002841	HP:0002841	Recurrent fungal infections	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0002841	HP:0002841	Recurrent fungal infections	0	KRT1 CL E G H	3848	6412	ORPHA:530838	KRT1-related diffuse nonepidermolytic keratoderma		100
HP:0002841	HP:0002841	Recurrent fungal infections	0	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis		1
HP:0002841	HP:0002841	Recurrent fungal infections	0	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002841	HP:0002841	Recurrent fungal infections	0	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0002841	HP:0002841	Recurrent fungal infections	0	NCF1 CL E G H	653361	7660	OMIM:233700	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I		13
HP:0002841	HP:0002841	Recurrent fungal infections	0	NCF2 CL E G H	4688	7661	OMIM:233710	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II		67
HP:0002841	HP:0002841	Recurrent fungal infections	0	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0002841	HP:0002841	Recurrent fungal infections	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0002841	HP:0002841	Recurrent fungal infections	0	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0002841	HP:0002841	Recurrent fungal infections	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0002841	HP:0002841	Recurrent fungal infections	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0002841	HP:0002841	Recurrent fungal infections	0	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3		21
HP:0002841	HP:0002841	Recurrent fungal infections	0	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002841	HP:0002841	Recurrent fungal infections	0	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome	.	127
HP:0002841	HP:0002841	Recurrent fungal infections	0	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent	127
HP:0002841	HP:0002841	Recurrent fungal infections	0	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome	.	50
HP:0002841	HP:0002841	Recurrent fungal infections	0	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent	50
HP:0002841	HP:0002841	Recurrent fungal infections	0	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II	.	38
HP:0002841	HP:0002841	Recurrent fungal infections	0	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	38
HP:0002841	HP:0002841	Recurrent fungal infections	0	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II	.	26
HP:0002841	HP:0002841	Recurrent fungal infections	0	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	26
HP:0002841	HP:0002841	Recurrent fungal infections	0	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II	.	34
HP:0002841	HP:0002841	Recurrent fungal infections	0	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	34
HP:0002841	HP:0002841	Recurrent fungal infections	0	SDR9C7 CL E G H	121214	29958	OMIM:617574	Ichthyosis, congenital, autosomal recessive 13		2
HP:0002841	HP:0002841	Recurrent fungal infections	0	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis		131
HP:0002841	HP:0002841	Recurrent fungal infections	0	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis		2
HP:0002841	HP:0002841	Recurrent fungal infections	0	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis		5
HP:0002841	HP:0002841	Recurrent fungal infections	0	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type		55
HP:0002841	HP:0002841	Recurrent fungal infections	0	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0002841	HP:0002841	Recurrent fungal infections	0	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis		7
HP:0002841	HP:0002841	Recurrent fungal infections	0	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0002841	HP:0002841	Recurrent fungal infections	0	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002841	HP:0002841	Recurrent fungal infections	0	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary		1
HP:0002841	HP:0002841	Recurrent fungal infections	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0002841	HP:0002841	Recurrent fungal infections	0	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0002841	HP:0002841	Recurrent fungal infections	0	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome	.	110
HP:0002841	HP:0002841	Recurrent fungal infections	0	STK4 CL E G H	6789	11408	OMIM:614868	T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS	.	4
HP:0002841	HP:0002841	Recurrent fungal infections	0	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0002841	HP:0002841	Recurrent fungal infections	0	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46		1
HP:0002841	HP:0002841	Recurrent fungal infections	0	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis		13
HP:0002841	HP:0002841	Recurrent fungal infections	0	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0002841	HP:0002841	Recurrent fungal infections	0	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002841	HP:0002841	Recurrent fungal infections	0	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	71
HP:0002841	HP:0002841	Recurrent fungal infections	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0002841	HP:0002841	Recurrent fungal infections	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0002841	HP:0002841	Recurrent fungal infections	0	TRAF3IP2 CL E G H	10758	1343	OMIM:615527	Candidiasis, familial, 8		4
HP:0002841	HP:0002841	Recurrent fungal infections	0	TYK2 CL E G H	7297	12440	OMIM:611521	Immunodeficiency 35		77
HP:0002841	HP:0002841	Recurrent fungal infections	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0002841	HP:0002841	Recurrent fungal infections	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0002841	HP:0002841	Recurrent fungal infections	0	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0002841	HP:0002841	Recurrent fungal infections	0	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0002841	HP:0002841	Recurrent fungal infections	0	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT		46
HP:0002841	HP:0002841	Recurrent fungal infections	0	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive		1
HP:0002841	HP:0025472	Recurrent plantar mycosis	1	CL E G H
HP:0002841	HP:0025351	Recurrent interdigital mycosis	1	CL E G H
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		75
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	AIRE CL E G H	326	360	ORPHA:3453	Autoimmune polyendocrinopathy type 1		92
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0002841	HP:0012203	Onychomycosis	1	ATR CL E G H	545	882	OMIM:614564	Cutaneous telangiectasia and cancer syndrome, familial		168
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0002841	HP:0005401	Recurrent candida infections	1	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency	HP:0040283 - Occasional	223
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0002841	HP:0012203	Onychomycosis	1	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0002841	HP:0012203	Onychomycosis	1	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0002841	HP:0005401	Recurrent candida infections	1	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0002841	HP:0005401	Recurrent candida infections	1	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	8
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0002841	HP:0005401	Recurrent candida infections	1	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	18
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0002841	HP:0005401	Recurrent candida infections	1	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	24
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0002841	HP:0002724	Recurrent Aspergillus infections	1	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0002841	HP:0002724	Recurrent Aspergillus infections	1	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis		1
HP:0002841	HP:0002724	Recurrent Aspergillus infections	1	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis		1371
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II		118
HP:0002841	HP:0005401	Recurrent candida infections	1	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	118
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0002841	HP:0002724	Recurrent Aspergillus infections	1	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0002841	HP:0012203	Onychomycosis	1	CLEC7A CL E G H	64581	14558	OMIM:613108	CANDIDIASIS, FAMILIAL, 4; CANDF4		3
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	CLEC7A CL E G H	64581	14558	OMIM:613108	CANDIDIASIS, FAMILIAL, 4; CANDF4		3
HP:0002841	HP:0002724	Recurrent Aspergillus infections	1	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE	.	27
HP:0002841	HP:0002724	Recurrent Aspergillus infections	1	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked	.	111
HP:0002841	HP:0012203	Onychomycosis	1	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency		94
HP:0002841	HP:0002724	Recurrent Aspergillus infections	1	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0002841	HP:0012203	Onychomycosis	1	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency	HP:0040281 - Very frequent	217
HP:0002841	HP:0005401	Recurrent candida infections	1	DOCK8 CL E G H	81704	19191	ORPHA:217390	Combined immunodeficiency due to DOCK8 deficiency	HP:0040281 - Very frequent	217
HP:0002841	HP:0002724	Recurrent Aspergillus infections	1	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis		3
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0002841	HP:0002724	Recurrent Aspergillus infections	1	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis		2
HP:0002841	HP:0005401	Recurrent candida infections	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0002841	HP:0005401	Recurrent candida infections	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0002841	HP:0002724	Recurrent Aspergillus infections	1	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis		1
HP:0002841	HP:0002724	Recurrent Aspergillus infections	1	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis		38
HP:0002841	HP:0002724	Recurrent Aspergillus infections	1	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis		3
HP:0002841	HP:0012203	Onychomycosis	1	HPGD CL E G H	3248	5154	ORPHA:217059	Isolated congenital digital clubbing		55
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0002841	HP:0012203	Onychomycosis	1	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002841	HP:0005401	Recurrent candida infections	1	IL12RB1 CL E G H	3594	5971	ORPHA:319552	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	HP:0040282 - Frequent	46
HP:0002841	HP:0012203	Onychomycosis	1	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	46
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	IL17F CL E G H	112744	16404	OMIM:613956	CANDIDIASIS, FAMILIAL, 6; CANDF6		14
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	IL17RA CL E G H	23765	5985	OMIM:613953	Immunodeficiency 51		196
HP:0002841	HP:0012203	Onychomycosis	1	IL17RC CL E G H	84818	18358	OMIM:616445	Candidiasis, familial, 9	.	4
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	IL17RC CL E G H	84818	18358	OMIM:616445	Candidiasis, familial, 9		4
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	HP:0040283 - Occasional	48
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	IL7R CL E G H	3575	6024	OMIM:608971	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive		94
HP:0002841	HP:0005401	Recurrent candida infections	1	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040283 - Occasional	94
HP:0002841	HP:0012203	Onychomycosis	1	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	4
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	ITGB2 CL E G H	3689	6155	OMIM:116920	Leukocyte adhesion deficiency, type I		114
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0002841	HP:0002724	Recurrent Aspergillus infections	1	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis		3
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0002841	HP:0012203	Onychomycosis	1	KRT1 CL E G H	3848	6412	ORPHA:530838	KRT1-related diffuse nonepidermolytic keratoderma	HP:0040282 - Frequent	100
HP:0002841	HP:0002724	Recurrent Aspergillus infections	1	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis		1
HP:0002841	HP:0012203	Onychomycosis	1	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0002841	HP:0002724	Recurrent Aspergillus infections	1	NCF1 CL E G H	653361	7660	OMIM:233700	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I	.	13
HP:0002841	HP:0002724	Recurrent Aspergillus infections	1	NCF2 CL E G H	4688	7661	OMIM:233710	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II	.	67
HP:0002841	HP:0012203	Onychomycosis	1	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0002841	HP:0012203	Onychomycosis	1	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3		21
HP:0002841	HP:0012203	Onychomycosis	1	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II		38
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0002841	HP:0005401	Recurrent candida infections	1	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	38
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II		26
HP:0002841	HP:0005401	Recurrent candida infections	1	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	26
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II		34
HP:0002841	HP:0005401	Recurrent candida infections	1	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	34
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0002841	HP:0012203	Onychomycosis	1	SDR9C7 CL E G H	121214	29958	OMIM:617574	Ichthyosis, congenital, autosomal recessive 13	.	2
HP:0002841	HP:0002724	Recurrent Aspergillus infections	1	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis		131
HP:0002841	HP:0002724	Recurrent Aspergillus infections	1	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis		2
HP:0002841	HP:0002724	Recurrent Aspergillus infections	1	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis		5
HP:0002841	HP:0005401	Recurrent candida infections	1	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type	.	55
HP:0002841	HP:0002724	Recurrent Aspergillus infections	1	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0002841	HP:0002724	Recurrent Aspergillus infections	1	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis		7
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome		49
HP:0002841	HP:0012203	Onychomycosis	1	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary		1
HP:0002841	HP:0002724	Recurrent Aspergillus infections	1	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional	89
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0002841	HP:0012203	Onychomycosis	1	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0002841	HP:0002724	Recurrent Aspergillus infections	1	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46		1
HP:0002841	HP:0002724	Recurrent Aspergillus infections	1	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis		13
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0002841	HP:0012203	Onychomycosis	1	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002841	HP:0012203	Onychomycosis	1	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent	71
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0002841	HP:0002724	Recurrent Aspergillus infections	1	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0002841	HP:0012203	Onychomycosis	1	TRAF3IP2 CL E G H	10758	1343	OMIM:615527	Candidiasis, familial, 8	.	4
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0002841	HP:0005401	Recurrent candida infections	1	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT	.	46
HP:0002841	HP:0011370	Recurrent cutaneous fungal infections	1	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive		1
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		75
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	AIRE CL E G H	326	360	ORPHA:3453	Autoimmune polyendocrinopathy type 1	HP:0040281 - Very frequent	92
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		8
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		18
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta		24
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II	.	118
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	118
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	CLEC7A CL E G H	64581	14558	OMIM:613108	CANDIDIASIS, FAMILIAL, 4; CANDF4		3
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency		94
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.	40
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	IKBKB CL E G H	3551	5960	OMIM:618204	IMMUNODEFICIENCY 15A; IMD15A		4
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	IL17F CL E G H	112744	16404	OMIM:613956	CANDIDIASIS, FAMILIAL, 6; CANDF6		14
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	IL17RA CL E G H	23765	5985	OMIM:613953	Immunodeficiency 51		196
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	IL17RC CL E G H	84818	18358	OMIM:616445	Candidiasis, familial, 9		4
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	HP:0040283 - Occasional	48
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	IL7R CL E G H	3575	6024	OMIM:608971	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive		94
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	ITGB2 CL E G H	3689	6155	OMIM:116920	Leukocyte adhesion deficiency, type I		114
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II	.	38
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	38
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II	.	26
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	26
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II	.	34
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	34
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040283 - Occasional	49
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	.	1
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040281 - Very frequent	89
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C	.	89
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46		1
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040281 - Very frequent
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040283 - Occasional	46
HP:0002841	HP:0002728	Chronic mucocutaneous candidiasis	2	ZNF341 CL E G H	84905	15992	OMIM:618282	Hyper-Ige recurrent infection syndrome 3, autosomal recessive	.	1
HP:0002841	HP:0005411	Chronic intestinal candidiasis	3	CL E G H
HP:0002841	HP:0009098	Chronic oral candidiasis	3	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0002841	HP:0009098	Chronic oral candidiasis	3	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0002841	HP:0009098	Chronic oral candidiasis	3	CARD9 CL E G H	64170	16391	OMIM:212050	Candidiasis, familial chronic mucocutaneous, autosomal recessive		45
HP:0002841	HP:0009098	Chronic oral candidiasis	3	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	8
HP:0002841	HP:0009098	Chronic oral candidiasis	3	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	18
HP:0002841	HP:0009098	Chronic oral candidiasis	3	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	24
HP:0002841	HP:0009098	Chronic oral candidiasis	3	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0002841	HP:0009098	Chronic oral candidiasis	3	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0002841	HP:0012204	Recurrent vulvovaginal candidiasis	3	CLEC7A CL E G H	64581	14558	OMIM:613108	CANDIDIASIS, FAMILIAL, 4; CANDF4		3
HP:0002841	HP:0009098	Chronic oral candidiasis	3	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency	HP:0040283 - Occasional	94
HP:0002841	HP:0009098	Chronic oral candidiasis	3	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0002841	HP:0009098	Chronic oral candidiasis	3	IL17RA CL E G H	23765	5985	OMIM:613953	Immunodeficiency 51		196
HP:0002841	HP:0009098	Chronic oral candidiasis	3	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0002841	HP:0009098	Chronic oral candidiasis	3	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0002841	HP:0009098	Chronic oral candidiasis	3	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	HP:0040283 - Occasional	48
HP:0002841	HP:0009098	Chronic oral candidiasis	3	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040282 - Frequent	140
HP:0002841	HP:0009098	Chronic oral candidiasis	3	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0002841	HP:0009098	Chronic oral candidiasis	3	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0002841	HP:0009098	Chronic oral candidiasis	3	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0002841	HP:0009098	Chronic oral candidiasis	3	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0002841	HP:0012204	Recurrent vulvovaginal candidiasis	3	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C		89
HP:0002841	HP:0009098	Chronic oral candidiasis	3	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46		1
HP:0002841	HP:0009098	Chronic oral candidiasis	3	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0002841	HP:0009098	Chronic oral candidiasis	3	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0002841	HP:0009098	Chronic oral candidiasis	3	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040282 - Frequent	46