Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002829	HP:0002829	Arthralgia	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		415
HP:0002829	HP:0002829	Arthralgia	0	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional		67
HP:0002829	HP:0002829	Arthralgia	0	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional		76
HP:0002829	HP:0002829	Arthralgia	0	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1	.		76
HP:0002829	HP:0002829	Arthralgia	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0002829	HP:0002829	Arthralgia	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040281 - Very frequent		95
HP:0002829	HP:0002829	Arthralgia	0	ANKH CL E G H	56172	15492	ORPHA:1416	Familial calcium pyrophosphate deposition	HP:0040281 - Very frequent		164
HP:0002829	HP:0002829	Arthralgia	0	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0002829	HP:0002829	Arthralgia	0	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome			49
HP:0002829	HP:0002829	Arthralgia	0	APC CL E G H	324	583	ORPHA:873	Desmoid tumor	HP:0040283 - Occasional		3179
HP:0002829	HP:0002829	Arthralgia	0	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional		356
HP:0002829	HP:0002829	Arthralgia	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0002829	HP:0002829	Arthralgia	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040282 - Frequent		78
HP:0002829	HP:0002829	Arthralgia	0	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis			78
HP:0002829	HP:0002829	Arthralgia	0	ASPN CL E G H	54829	14872	OMIM:607850	Hand osteoarthritis	.		2
HP:0002829	HP:0002829	Arthralgia	0	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		145
HP:0002829	HP:0002829	Arthralgia	0	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		145
HP:0002829	HP:0002829	Arthralgia	0	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent		315
HP:0002829	HP:0002829	Arthralgia	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002829	HP:0002829	Arthralgia	0	BCL11A CL E G H	53335	13221	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			11
HP:0002829	HP:0002829	Arthralgia	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002829	HP:0002829	Arthralgia	0	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional
HP:0002829	HP:0002829	Arthralgia	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002829	HP:0002829	Arthralgia	0	C1R CL E G H	715	1246	OMIM:130080	Ehlers-Danlos syndrome, periodontal type, 1			15
HP:0002829	HP:0002829	Arthralgia	0	C1S CL E G H	716	1247	OMIM:617174	Ehlers-Danlos syndrome, periodontal type, 2	HP:0040283 - Occasional		7
HP:0002829	HP:0002829	Arthralgia	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040282 - Frequent		1
HP:0002829	HP:0002829	Arthralgia	0	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent		11
HP:0002829	HP:0002829	Arthralgia	0	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		317
HP:0002829	HP:0002829	Arthralgia	0	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0002829	HP:0002829	Arthralgia	0	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040282 - Frequent
HP:0002829	HP:0002829	Arthralgia	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0002829	HP:0002829	Arthralgia	0	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0002829	HP:0002829	Arthralgia	0	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		38
HP:0002829	HP:0002829	Arthralgia	0	CD244 CL E G H	51744	18171	OMIM:180300	RHEUMATOID ARTHRITIS; RA			2
HP:0002829	HP:0002829	Arthralgia	0	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		8
HP:0002829	HP:0002829	Arthralgia	0	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		1
HP:0002829	HP:0002829	Arthralgia	0	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6			1
HP:0002829	HP:0002829	Arthralgia	0	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia	HP:0040281 - Very frequent		165
HP:0002829	HP:0002829	Arthralgia	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.		165
HP:0002829	HP:0002829	Arthralgia	0	CIITA CL E G H	4261	7067	OMIM:180300	RHEUMATOID ARTHRITIS; RA			118
HP:0002829	HP:0002829	Arthralgia	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		27
HP:0002829	HP:0002829	Arthralgia	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002829	HP:0002829	Arthralgia	0	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040283 - Occasional		79
HP:0002829	HP:0002829	Arthralgia	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040281 - Very frequent		215
HP:0002829	HP:0002829	Arthralgia	0	COL11A2 CL E G H	1302	2187	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia	HP:0040281 - Very frequent		222
HP:0002829	HP:0002829	Arthralgia	0	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia	.		222
HP:0002829	HP:0002829	Arthralgia	0	COL11A2 CL E G H	1302	2187	OMIM:184840	Stickler syndrome, type III			222
HP:0002829	HP:0002829	Arthralgia	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		373
HP:0002829	HP:0002829	Arthralgia	0	COL2A1 CL E G H	1280	2200	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia	HP:0040281 - Very frequent		284
HP:0002829	HP:0002829	Arthralgia	0	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type	.		284
HP:0002829	HP:0002829	Arthralgia	0	COL2A1 CL E G H	1280	2200	ORPHA:2380	Legg-Calvé-Perthes disease	HP:0040281 - Very frequent		284
HP:0002829	HP:0002829	Arthralgia	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita			284
HP:0002829	HP:0002829	Arthralgia	0	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type	.		284
HP:0002829	HP:0002829	Arthralgia	0	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1	HP:0040282 - Frequent		284
HP:0002829	HP:0002829	Arthralgia	0	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I			284
HP:0002829	HP:0002829	Arthralgia	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		660
HP:0002829	HP:0002829	Arthralgia	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		325
HP:0002829	HP:0002829	Arthralgia	0	COL9A1 CL E G H	1297	2217	OMIM:614135	Epiphyseal dysplasia, multiple, 6			110
HP:0002829	HP:0002829	Arthralgia	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia			89
HP:0002829	HP:0002829	Arthralgia	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040282 - Frequent		89
HP:0002829	HP:0002829	Arthralgia	0	COPA CL E G H	1314	2230	OMIM:616414	AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK			5
HP:0002829	HP:0002829	Arthralgia	0	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		10
HP:0002829	HP:0002829	Arthralgia	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent		10
HP:0002829	HP:0002829	Arthralgia	0	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor	HP:0040283 - Occasional		88
HP:0002829	HP:0002829	Arthralgia	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		30
HP:0002829	HP:0002829	Arthralgia	0	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type	HP:0040282 - Frequent
HP:0002829	HP:0002829	Arthralgia	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002829	HP:0002829	Arthralgia	0	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2	.		13
HP:0002829	HP:0002829	Arthralgia	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002829	HP:0002829	Arthralgia	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		172
HP:0002829	HP:0002829	Arthralgia	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		151
HP:0002829	HP:0002829	Arthralgia	0	EPOR CL E G H	2057	3416	ORPHA:90042	Primary familial polycythemia	HP:0040282 - Frequent		43
HP:0002829	HP:0002829	Arthralgia	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040282 - Frequent		1
HP:0002829	HP:0002829	Arthralgia	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		106
HP:0002829	HP:0002829	Arthralgia	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		54
HP:0002829	HP:0002829	Arthralgia	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		158
HP:0002829	HP:0002829	Arthralgia	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		83
HP:0002829	HP:0002829	Arthralgia	0	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A	HP:0040282 - Frequent		303
HP:0002829	HP:0002829	Arthralgia	0	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A	HP:0040283 - Occasional		303
HP:0002829	HP:0002829	Arthralgia	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040282 - Frequent		59
HP:0002829	HP:0002829	Arthralgia	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002829	HP:0002829	Arthralgia	0	FTL CL E G H	2512	3999	ORPHA:254704	Genetic hyperferritinemia without iron overload	HP:0040283 - Occasional		33
HP:0002829	HP:0002829	Arthralgia	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040281 - Very frequent		291
HP:0002829	HP:0002829	Arthralgia	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002829	HP:0002829	Arthralgia	0	GNPTG CL E G H	84572	23026	OMIM:252605	Mucolipidosis III gamma	.		57
HP:0002829	HP:0002829	Arthralgia	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040281 - Very frequent		5
HP:0002829	HP:0002829	Arthralgia	0	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome			5
HP:0002829	HP:0002829	Arthralgia	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0002829	HP:0002829	Arthralgia	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0002829	HP:0002829	Arthralgia	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0002829	HP:0002829	Arthralgia	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040283 - Occasional		580
HP:0002829	HP:0002829	Arthralgia	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040283 - Occasional		580
HP:0002829	HP:0002829	Arthralgia	0	HBB CL E G H	3043	4827	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			580
HP:0002829	HP:0002829	Arthralgia	0	HBG1 CL E G H	3047	4831	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			35
HP:0002829	HP:0002829	Arthralgia	0	HBG2 CL E G H	3048	4832	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			50
HP:0002829	HP:0002829	Arthralgia	0	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional		38
HP:0002829	HP:0002829	Arthralgia	0	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria	HP:0040281 - Very frequent		77
HP:0002829	HP:0002829	Arthralgia	0	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria	.		77
HP:0002829	HP:0002829	Arthralgia	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040282 - Frequent		4
HP:0002829	HP:0002829	Arthralgia	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		4
HP:0002829	HP:0002829	Arthralgia	0	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis	HP:0040281 - Very frequent		4
HP:0002829	HP:0002829	Arthralgia	0	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040283 - Occasional		4
HP:0002829	HP:0002829	Arthralgia	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent
HP:0002829	HP:0002829	Arthralgia	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent		1
HP:0002829	HP:0002829	Arthralgia	0	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0002829	HP:0002829	Arthralgia	0	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0002829	HP:0002829	Arthralgia	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent		2
HP:0002829	HP:0002829	Arthralgia	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		2
HP:0002829	HP:0002829	Arthralgia	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040281 - Very frequent		2
HP:0002829	HP:0002829	Arthralgia	0	HPGD CL E G H	3248	5154	ORPHA:1525	Cranio-osteoarthropathy	HP:0040282 - Frequent		55
HP:0002829	HP:0002829	Arthralgia	0	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1	.		55
HP:0002829	HP:0002829	Arthralgia	0	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis	HP:0040282 - Frequent		55
HP:0002829	HP:0002829	Arthralgia	0	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		32
HP:0002829	HP:0002829	Arthralgia	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040282 - Frequent		60
HP:0002829	HP:0002829	Arthralgia	0	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			1
HP:0002829	HP:0002829	Arthralgia	0	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			5
HP:0002829	HP:0002829	Arthralgia	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040282 - Frequent		2
HP:0002829	HP:0002829	Arthralgia	0	IL10 CL E G H	3586	5962	OMIM:180300	RHEUMATOID ARTHRITIS; RA			2
HP:0002829	HP:0002829	Arthralgia	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0002829	HP:0002829	Arthralgia	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0002829	HP:0002829	Arthralgia	0	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040283 - Occasional		31
HP:0002829	HP:0002829	Arthralgia	0	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency			40
HP:0002829	HP:0002829	Arthralgia	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040282 - Frequent		1
HP:0002829	HP:0002829	Arthralgia	0	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		65
HP:0002829	HP:0002829	Arthralgia	0	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0002829	HP:0002829	Arthralgia	0	IL6 CL E G H	3569	6018	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040281 - Very frequent		2
HP:0002829	HP:0002829	Arthralgia	0	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional
HP:0002829	HP:0002829	Arthralgia	0	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		4
HP:0002829	HP:0002829	Arthralgia	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040281 - Very frequent		1
HP:0002829	HP:0002829	Arthralgia	0	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent		4
HP:0002829	HP:0002829	Arthralgia	0	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040282 - Frequent		57
HP:0002829	HP:0002829	Arthralgia	0	KIF7 CL E G H	374654	30497	ORPHA:166024	Multiple epiphyseal dysplasia, Al-Gazali type	HP:0040282 - Frequent		167
HP:0002829	HP:0002829	Arthralgia	0	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		327
HP:0002829	HP:0002829	Arthralgia	0	KLF1 CL E G H	10661	6345	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			42
HP:0002829	HP:0002829	Arthralgia	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0002829	HP:0002829	Arthralgia	0	LACC1 CL E G H	144811	26789	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040281 - Very frequent		1
HP:0002829	HP:0002829	Arthralgia	0	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional		2157
HP:0002829	HP:0002829	Arthralgia	0	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional		73
HP:0002829	HP:0002829	Arthralgia	0	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040283 - Occasional		68
HP:0002829	HP:0002829	Arthralgia	0	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0002829	HP:0002829	Arthralgia	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002829	HP:0002829	Arthralgia	0	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040283 - Occasional		645
HP:0002829	HP:0002829	Arthralgia	0	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy	HP:0040283 - Occasional		11
HP:0002829	HP:0002829	Arthralgia	0	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome	HP:0040281 - Very frequent		186
HP:0002829	HP:0002829	Arthralgia	0	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0002829	HP:0002829	Arthralgia	0	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome	.		63
HP:0002829	HP:0002829	Arthralgia	0	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5	.		32
HP:0002829	HP:0002829	Arthralgia	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040282 - Frequent		281
HP:0002829	HP:0002829	Arthralgia	0	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever	HP:0040281 - Very frequent		281
HP:0002829	HP:0002829	Arthralgia	0	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR			281
HP:0002829	HP:0002829	Arthralgia	0	MEFV CL E G H	4210	6998	OMIM:134610	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT			281
HP:0002829	HP:0002829	Arthralgia	0	MEFV CL E G H	4210	6998	ORPHA:329967	Intermittent hydrarthrosis	HP:0040283 - Occasional		281
HP:0002829	HP:0002829	Arthralgia	0	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE			281
HP:0002829	HP:0002829	Arthralgia	0	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040282 - Frequent		281
HP:0002829	HP:0002829	Arthralgia	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0002829	HP:0002829	Arthralgia	0	MFN2 CL E G H	9927	16877	ORPHA:2398	Multiple symmetric lipomatosis	HP:0040281 - Very frequent		203
HP:0002829	HP:0002829	Arthralgia	0	MIF CL E G H	4282	7097	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040281 - Very frequent		1
HP:0002829	HP:0002829	Arthralgia	0	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040283 - Occasional
HP:0002829	HP:0002829	Arthralgia	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0002829	HP:0002829	Arthralgia	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.		64
HP:0002829	HP:0002829	Arthralgia	0	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040282 - Frequent		97
HP:0002829	HP:0002829	Arthralgia	0	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		1
HP:0002829	HP:0002829	Arthralgia	0	MSMO1 CL E G H	6307	10545	OMIM:616834	Microcephaly, congenital cataract, and psoriasiform dermatitis	.		3
HP:0002829	HP:0002829	Arthralgia	0	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040283 - Occasional
HP:0002829	HP:0002829	Arthralgia	0	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome			150
HP:0002829	HP:0002829	Arthralgia	0	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever	HP:0040281 - Very frequent		150
HP:0002829	HP:0002829	Arthralgia	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0002829	HP:0002829	Arthralgia	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0002829	HP:0002829	Arthralgia	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		13
HP:0002829	HP:0002829	Arthralgia	0	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		7
HP:0002829	HP:0002829	Arthralgia	0	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		11
HP:0002829	HP:0002829	Arthralgia	0	NFKBIL1 CL E G H	4795	7800	OMIM:180300	RHEUMATOID ARTHRITIS; RA			1
HP:0002829	HP:0002829	Arthralgia	0	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC			30
HP:0002829	HP:0002829	Arthralgia	0	NLRC4 CL E G H	58484	16412	OMIM:616115	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4; FCAS4			30
HP:0002829	HP:0002829	Arthralgia	0	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2			99
HP:0002829	HP:0002829	Arthralgia	0	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040281 - Very frequent		217
HP:0002829	HP:0002829	Arthralgia	0	NLRP3 CL E G H	114548	16400	OMIM:617772	Deafness, autosomal dominant 34, with or without inflammation	.		217
HP:0002829	HP:0002829	Arthralgia	0	NLRP3 CL E G H	114548	16400	OMIM:120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1			217
HP:0002829	HP:0002829	Arthralgia	0	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria	HP:0040283 - Occasional		217
HP:0002829	HP:0002829	Arthralgia	0	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome			217
HP:0002829	HP:0002829	Arthralgia	0	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040281 - Very frequent		217
HP:0002829	HP:0002829	Arthralgia	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040281 - Very frequent		187
HP:0002829	HP:0002829	Arthralgia	0	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS			187
HP:0002829	HP:0002829	Arthralgia	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040282 - Frequent		138
HP:0002829	HP:0002829	Arthralgia	0	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS			3
HP:0002829	HP:0002829	Arthralgia	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0002829	HP:0002829	Arthralgia	0	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040283 - Occasional		178
HP:0002829	HP:0002829	Arthralgia	0	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant	.		217
HP:0002829	HP:0002829	Arthralgia	0	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040282 - Frequent		217
HP:0002829	HP:0002829	Arthralgia	0	PIGT CL E G H	51604	14938	OMIM:615399	Paroxysmal nocturnal hemoglobinuria 2	.		12
HP:0002829	HP:0002829	Arthralgia	0	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0002829	HP:0002829	Arthralgia	0	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated	.		21
HP:0002829	HP:0002829	Arthralgia	0	POMP CL E G H	51371	20330	OMIM:618048	Proteasome-Associated autoinflammatory syndrome 2	.		2
HP:0002829	HP:0002829	Arthralgia	0	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		10
HP:0002829	HP:0002829	Arthralgia	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent
HP:0002829	HP:0002829	Arthralgia	0	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0002829	HP:0002829	Arthralgia	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0002829	HP:0002829	Arthralgia	0	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0002829	HP:0002829	Arthralgia	0	PSTPIP1 CL E G H	9051	9580	ORPHA:69126	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	HP:0040282 - Frequent		96
HP:0002829	HP:0002829	Arthralgia	0	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome	HP:0040281 - Very frequent		58
HP:0002829	HP:0002829	Arthralgia	0	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent
HP:0002829	HP:0002829	Arthralgia	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0002829	HP:0002829	Arthralgia	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent		3
HP:0002829	HP:0002829	Arthralgia	0	PTPN22 CL E G H	26191	9652	OMIM:180300	RHEUMATOID ARTHRITIS; RA			3
HP:0002829	HP:0002829	Arthralgia	0	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		3
HP:0002829	HP:0002829	Arthralgia	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002829	HP:0002829	Arthralgia	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:1824	Lowry-Wood syndrome	HP:0040282 - Frequent		15
HP:0002829	HP:0002829	Arthralgia	0	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		181
HP:0002829	HP:0002829	Arthralgia	0	SEPTIN9 CL E G H	10801	7323	ORPHA:2901	Neuralgic amyotrophy	HP:0040281 - Very frequent
HP:0002829	HP:0002829	Arthralgia	0	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease	.		3
HP:0002829	HP:0002829	Arthralgia	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		145
HP:0002829	HP:0002829	Arthralgia	0	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome			145
HP:0002829	HP:0002829	Arthralgia	0	SLC22A4 CL E G H	6583	10968	OMIM:180300	RHEUMATOID ARTHRITIS; RA			3
HP:0002829	HP:0002829	Arthralgia	0	SLC26A2 CL E G H	1836	10994	OMIM:226900	Epiphyseal dysplasia, multiple, 4	.		166
HP:0002829	HP:0002829	Arthralgia	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040281 - Very frequent		166
HP:0002829	HP:0002829	Arthralgia	0	SLC40A1 CL E G H	30061	10909	ORPHA:139491	Hemochromatosis type 4	HP:0040281 - Very frequent		56
HP:0002829	HP:0002829	Arthralgia	0	SLC40A1 CL E G H	30061	10909	OMIM:606069	Hemochromatosis, type 4			56
HP:0002829	HP:0002829	Arthralgia	0	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis	HP:0040282 - Frequent		13
HP:0002829	HP:0002829	Arthralgia	0	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6			7
HP:0002829	HP:0002829	Arthralgia	0	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B			164
HP:0002829	HP:0002829	Arthralgia	0	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1			26
HP:0002829	HP:0002829	Arthralgia	0	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional
HP:0002829	HP:0002829	Arthralgia	0	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		1
HP:0002829	HP:0002829	Arthralgia	0	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		1
HP:0002829	HP:0002829	Arthralgia	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040282 - Frequent		2
HP:0002829	HP:0002829	Arthralgia	0	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional		2
HP:0002829	HP:0002829	Arthralgia	0	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040282 - Frequent		2
HP:0002829	HP:0002829	Arthralgia	0	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0002829	HP:0002829	Arthralgia	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002829	HP:0002829	Arthralgia	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002829	HP:0002829	Arthralgia	0	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		3
HP:0002829	HP:0002829	Arthralgia	0	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040282 - Frequent		3
HP:0002829	HP:0002829	Arthralgia	0	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		3
HP:0002829	HP:0002829	Arthralgia	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040282 - Frequent		3
HP:0002829	HP:0002829	Arthralgia	0	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0002829	HP:0002829	Arthralgia	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002829	HP:0002829	Arthralgia	0	TNFRSF11B CL E G H	4982	11909	ORPHA:1416	Familial calcium pyrophosphate deposition	HP:0040281 - Very frequent		44
HP:0002829	HP:0002829	Arthralgia	0	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		32
HP:0002829	HP:0002829	Arthralgia	0	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		12
HP:0002829	HP:0002829	Arthralgia	0	TNFRSF1A CL E G H	7132	11916	ORPHA:329967	Intermittent hydrarthrosis	HP:0040283 - Occasional		131
HP:0002829	HP:0002829	Arthralgia	0	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant			131
HP:0002829	HP:0002829	Arthralgia	0	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040283 - Occasional		131
HP:0002829	HP:0002829	Arthralgia	0	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency	HP:0040283 - Occasional		1
HP:0002829	HP:0002829	Arthralgia	0	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1	HP:0040282 - Frequent		134
HP:0002829	HP:0002829	Arthralgia	0	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like	.		134
HP:0002829	HP:0002829	Arthralgia	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040282 - Frequent		46
HP:0002829	HP:0002829	Arthralgia	0	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked	.		46
HP:0002829	HP:0002829	Arthralgia	0	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease	HP:0040281 - Very frequent		31
HP:0002829	HP:0002829	Arthralgia	0	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2			31
HP:0002829	HP:0002829	Arthralgia	0	TREX1 CL E G H	11277	12269	OMIM:610448	Chilblain lupus 1	.		56
HP:0002829	HP:0002829	Arthralgia	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.	HP:0003584 - Late onset	171
HP:0002829	HP:0002829	Arthralgia	0	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease	HP:0040281 - Very frequent		22
HP:0002829	HP:0002829	Arthralgia	0	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS			35
HP:0002829	HP:0002829	Arthralgia	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0002829	HP:0002829	Arthralgia	0	UFSP2 CL E G H	55325	25640	OMIM:617974	Spondyloepimetaphyseal dysplasia, DI Rocco type	.		2
HP:0002829	HP:0002829	Arthralgia	0	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome	HP:0040281 - Very frequent		63
HP:0002829	HP:0002829	Arthralgia	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0002829	HP:0002829	Arthralgia	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		34
HP:0002829	HP:0002829	Arthralgia	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		86
HP:0002829	HP:0005059	Arthralgia/arthritis	1	CL E G H