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:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	ANKRD55 CL E G H	79722	25681	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	CD244 CL E G H	51744	18171	OMIM:180300	RHEUMATOID ARTHRITIS; RA		2
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	CD247 CL E G H	919	1677	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis		8
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis		8
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	CIITA CL E G H	4261	7067	OMIM:180300	RHEUMATOID ARTHRITIS; RA		118
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	COPA CL E G H	1314	2230	OMIM:616414	AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK		5
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis		10
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis		4
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis		1
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis		2
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1		2
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis		2
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	IL10 CL E G H	3586	5962	OMIM:180300	RHEUMATOID ARTHRITIS; RA		2
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency		40
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	IL2RA CL E G H	3559	6008	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis		65
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis		65
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	IL2RB CL E G H	3560	6009	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	IL37 CL E G H	27178	15563	OMIM:619398	INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	IL6 CL E G H	3569	6018	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis		2
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	LACC1 CL E G H	144811	26789	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis		1
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS		186
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever		281
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR		281
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE		281
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome		281
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	MIF CL E G H	4282	7097	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis		1
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia		81
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever		150
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia		9
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	NFKBIL1 CL E G H	4795	7800	OMIM:180300	RHEUMATOID ARTHRITIS; RA		1
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2		99
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome		217
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome		217
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome		217
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS		187
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis		3
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2		2
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	PTPN2 CL E G H	5771	9650	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis		3
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis		3
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	PTPN22 CL E G H	26191	9652	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis		3
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	PTPN22 CL E G H	26191	9652	OMIM:180300	RHEUMATOID ARTHRITIS; RA		3
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis		3
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	SLC22A4 CL E G H	6583	10968	OMIM:180300	RHEUMATOID ARTHRITIS; RA		3
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	STAT4 CL E G H	6775	11365	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis		2
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus		2
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis		2
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease		13
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant		131
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome		131
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	TREX1 CL E G H	11277	12269	OMIM:610448	Chilblain lupus 1		56
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy		56
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS		35
HP:0025021	HP:0025021	Abnormal erythrocyte sedimentation rate	0	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	ANKRD55 CL E G H	79722	25681	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	.
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	CARD10 CL E G H	29775	16422	OMIM:619632	IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89		5
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA		87
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	CD244 CL E G H	51744	18171	OMIM:180300	RHEUMATOID ARTHRITIS; RA		2
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	CD247 CL E G H	919	1677	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	8
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	8
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	CIITA CL E G H	4261	7067	OMIM:180300	RHEUMATOID ARTHRITIS; RA		118
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	COPA CL E G H	1314	2230	OMIM:616414	AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK		5
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent	10
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040282 - Frequent	4
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent	1
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040282 - Frequent	2
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1	.	2
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040281 - Very frequent	2
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	IL10 CL E G H	3586	5962	OMIM:180300	RHEUMATOID ARTHRITIS; RA		2
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency		40
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	IL2RA CL E G H	3559	6008	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	65
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	65
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	IL2RB CL E G H	3560	6009	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	IL37 CL E G H	27178	15563	OMIM:619398	INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	IL6 CL E G H	3569	6018	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040281 - Very frequent	2
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040281 - Very frequent
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1		51
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	LACC1 CL E G H	144811	26789	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040281 - Very frequent	1
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS		186
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever	HP:0040283 - Occasional	281
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR		281
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE		281
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040282 - Frequent	281
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	MIF CL E G H	4282	7097	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040281 - Very frequent	1
HP:0025021	HP:0025022	Decreased erythrocyte sedimentation rate	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040283 - Occasional	81
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever	HP:0040281 - Very frequent	150
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040283 - Occasional	9
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	NFKBIL1 CL E G H	4795	7800	OMIM:180300	RHEUMATOID ARTHRITIS; RA		1
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2		99
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040281 - Very frequent	217
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040282 - Frequent	217
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome		217
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS		187
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040282 - Frequent	3
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2	.	2
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	PTPN2 CL E G H	5771	9650	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040282 - Frequent	3
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent	3
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	PTPN22 CL E G H	26191	9652	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	3
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	PTPN22 CL E G H	26191	9652	OMIM:180300	RHEUMATOID ARTHRITIS; RA		3
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	3
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	SLC22A4 CL E G H	6583	10968	OMIM:180300	RHEUMATOID ARTHRITIS; RA		3
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040281 - Very frequent
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	STAT4 CL E G H	6775	11365	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	2
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040281 - Very frequent	2
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent	2
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040283 - Occasional	13
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant	.	131
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040281 - Very frequent	131
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	TREX1 CL E G H	11277	12269	OMIM:610448	Chilblain lupus 1		56
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	.	56
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS		35
HP:0025021	HP:0003565	Elevated erythrocyte sedimentation rate	1	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91