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:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1		76
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency		98
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	197
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII		50
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	43
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	17
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis		1
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type		148
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	CBLIF CL E G H	2694	4268	OMIM:261000	Intrinsic factor deficiency
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome		39
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia		86
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome		86
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome		57
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	CHEK2 CL E G H	11200	16627	ORPHA:668	Osteosarcoma	HP:0040282 - Frequent	833
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	193
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile		101
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	108
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	157
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	184
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor		8
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset		407
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II		407
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	GATA1 CL E G H	2623	4170	ORPHA:67044	Thrombocytopenia with congenital dyserythropoietic anemia	HP:0040281 - Very frequent	29
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	GATA2 CL E G H	2624	4171	ORPHA:98827	Unclassified myelodysplastic syndrome	HP:0040282 - Frequent	137
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia		580
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis		2
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	HMOX1 CL E G H	3162	5013	OMIM:614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D		3
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040281 - Very frequent	7
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis		57
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis		3
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	KIF23 CL E G H	9493	6392	OMIM:105600	Anemia, dyserythropoietic congenital, type III		1
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV		42
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	136
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	LDHA CL E G H	3939	6535	ORPHA:284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	HP:0040283 - Occasional	35
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	LPIN1 CL E G H	23175	13345	OMIM:268200	Rhabdomyolysis, acute recurrent		95
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome		239
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	MLIP CL E G H	90523	21355	OMIM:620138
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis		97
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma		11
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5		84
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2		88
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis		36
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria		46
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	PITRM1 CL E G H	10531	17663	OMIM:619405	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30		1
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy		133
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17		759
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy		65
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	180
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	33
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	18
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	213
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	221
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	RB1 CL E G H	5925	9884	ORPHA:668	Osteosarcoma	HP:0040282 - Frequent	365
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	RHAG CL E G H	6005	10006	ORPHA:3203	Overhydrated hereditary stomatocytosis		13
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome		13
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome		8
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome		16
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040281 - Very frequent	67
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES		1
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency		82
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis		109
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus		2
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1		82
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis		3
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	TP53 CL E G H	7157	11998	ORPHA:668	Osteosarcoma	HP:0040282 - Frequent	911
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis		130
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome		8
HP:0045040	HP:0045040	Abnormal lactate dehydrogenase level	0	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0045040	HP:0045041	Reduced lactate dehydrogenase B level	1	CL E G H
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1		76
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency	HP:0040282 - Frequent	98
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII		50
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040284 - Very rare	1
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type		148
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	CBLIF CL E G H	2694	4268	OMIM:261000	Intrinsic factor deficiency
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	39
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia		86
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	86
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	57
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	CHEK2 CL E G H	11200	16627	ORPHA:668	Osteosarcoma	HP:0040282 - Frequent	833
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile		101
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040284 - Very rare	8
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040281 - Very frequent	407
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II		407
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia	HP:0040283 - Occasional	580
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis	HP:0040282 - Frequent	2
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	HMOX1 CL E G H	3162	5013	OMIM:614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D		3
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040284 - Very rare	57
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040282 - Frequent	3
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	KIF23 CL E G H	9493	6392	OMIM:105600	Anemia, dyserythropoietic congenital, type III		1
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV		42
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	LPIN1 CL E G H	23175	13345	OMIM:268200	Rhabdomyolysis, acute recurrent		95
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional	239
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	MLIP CL E G H	90523	21355	OMIM:620138
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040284 - Very rare	97
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma	HP:0040282 - Frequent	11
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5		84
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2		88
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040282 - Frequent	36
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040282 - Frequent	46
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	PITRM1 CL E G H	10531	17663	OMIM:619405	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30		1
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040282 - Frequent	133
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040283 - Occasional	759
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040282 - Frequent	65
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	RB1 CL E G H	5925	9884	ORPHA:668	Osteosarcoma	HP:0040282 - Frequent	365
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	RHAG CL E G H	6005	10006	ORPHA:3203	Overhydrated hereditary stomatocytosis	HP:0040283 - Occasional	13
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome	HP:0040282 - Frequent	13
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome	HP:0040282 - Frequent	8
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome	HP:0040282 - Frequent	16
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	HP:0040282 - Frequent
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES		1
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040281 - Very frequent	82
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040282 - Frequent	109
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent	104
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent	2
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1		82
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040284 - Very rare	3
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	TP53 CL E G H	7157	11998	ORPHA:668	Osteosarcoma	HP:0040282 - Frequent	911
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040284 - Very rare	130
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome		8
HP:0045040	HP:0025435	Increased circulating lactate dehydrogenase concentration	1	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91