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:0004341	HP:0004341	Abnormality of vitamin B12 metabolism	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy		135
HP:0004341	HP:0004341	Abnormality of vitamin B12 metabolism	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0004341	HP:0004341	Abnormality of vitamin B12 metabolism	0	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia		68
HP:0004341	HP:0004341	Abnormality of vitamin B12 metabolism	0	AMN CL E G H	81693	14604	OMIM:618882	IMERSLUND-GRASBECK SYNDROME 2; IGS2		25
HP:0004341	HP:0004341	Abnormality of vitamin B12 metabolism	0	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome		25
HP:0004341	HP:0004341	Abnormality of vitamin B12 metabolism	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome		87
HP:0004341	HP:0004341	Abnormality of vitamin B12 metabolism	0	CBLIF CL E G H	2694	4268	OMIM:261000	Intrinsic factor deficiency
HP:0004341	HP:0004341	Abnormality of vitamin B12 metabolism	0	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma	HP:0040283 - Occasional	1
HP:0004341	HP:0004341	Abnormality of vitamin B12 metabolism	0	CD320 CL E G H	51293	16692	OMIM:613646	METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT		16
HP:0004341	HP:0004341	Abnormality of vitamin B12 metabolism	0	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome		273
HP:0004341	HP:0004341	Abnormality of vitamin B12 metabolism	0	CUBN CL E G H	8029	2548	OMIM:261100	Megaloblastic anemia 1		273
HP:0004341	HP:0004341	Abnormality of vitamin B12 metabolism	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome		59
HP:0004341	HP:0004341	Abnormality of vitamin B12 metabolism	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome		37
HP:0004341	HP:0004341	Abnormality of vitamin B12 metabolism	0	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA		5
HP:0004341	HP:0004341	Abnormality of vitamin B12 metabolism	0	GUCY2C CL E G H	2984	4688	OMIM:614616	Diarrhea 6		12
HP:0004341	HP:0004341	Abnormality of vitamin B12 metabolism	0	HCFC1 CL E G H	3054	4839	OMIM:309541	Methylmalonic acidemia and homocysteinemia, Cblx type		100
HP:0004341	HP:0004341	Abnormality of vitamin B12 metabolism	0	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0004341	HP:0004341	Abnormality of vitamin B12 metabolism	0	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0004341	HP:0004341	Abnormality of vitamin B12 metabolism	0	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF		46
HP:0004341	HP:0004341	Abnormality of vitamin B12 metabolism	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0004341	HP:0004341	Abnormality of vitamin B12 metabolism	0	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type		113
HP:0004341	HP:0004341	Abnormality of vitamin B12 metabolism	0	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type		127
HP:0004341	HP:0004341	Abnormality of vitamin B12 metabolism	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0004341	HP:0004341	Abnormality of vitamin B12 metabolism	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type		101
HP:0004341	HP:0004341	Abnormality of vitamin B12 metabolism	0	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type		50
HP:0004341	HP:0004341	Abnormality of vitamin B12 metabolism	0	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0004341	HP:0004341	Abnormality of vitamin B12 metabolism	0	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia		5
HP:0004341	HP:0004341	Abnormality of vitamin B12 metabolism	0	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type		217
HP:0004341	HP:0004341	Abnormality of vitamin B12 metabolism	0	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type		88
HP:0004341	HP:0004341	Abnormality of vitamin B12 metabolism	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0004341	HP:0004341	Abnormality of vitamin B12 metabolism	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome		10
HP:0004341	HP:0004341	Abnormality of vitamin B12 metabolism	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0004341	HP:0004341	Abnormality of vitamin B12 metabolism	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0004341	HP:0004341	Abnormality of vitamin B12 metabolism	0	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES		1
HP:0004341	HP:0004341	Abnormality of vitamin B12 metabolism	0	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)		66
HP:0004341	HP:0004341	Abnormality of vitamin B12 metabolism	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria		60
HP:0004341	HP:0040126	Abnormal vitamin B12 level	1	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy		135
HP:0004341	HP:0040126	Abnormal vitamin B12 level	1	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0004341	HP:0002912	Methylmalonic acidemia	1	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	.	53
HP:0004341	HP:0002912	Methylmalonic acidemia	1	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia	HP:0040281 - Very frequent	68
HP:0004341	HP:0040126	Abnormal vitamin B12 level	1	AMN CL E G H	81693	14604	OMIM:618882	IMERSLUND-GRASBECK SYNDROME 2; IGS2		25
HP:0004341	HP:0040126	Abnormal vitamin B12 level	1	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome		25
HP:0004341	HP:0200118	Malabsorption of Vitamin B12	1	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040280 - Obligate	25
HP:0004341	HP:0040126	Abnormal vitamin B12 level	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0004341	HP:0200118	Malabsorption of Vitamin B12	1	CBLIF CL E G H	2694	4268	OMIM:261000	Intrinsic factor deficiency	.
HP:0004341	HP:0040126	Abnormal vitamin B12 level	1	CBLIF CL E G H	2694	4268	OMIM:261000	Intrinsic factor deficiency
HP:0004341	HP:0002912	Methylmalonic acidemia	1	CD320 CL E G H	51293	16692	OMIM:613646	METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT		16
HP:0004341	HP:0040126	Abnormal vitamin B12 level	1	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome		273
HP:0004341	HP:0200118	Malabsorption of Vitamin B12	1	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040280 - Obligate	273
HP:0004341	HP:0040126	Abnormal vitamin B12 level	1	CUBN CL E G H	8029	2548	OMIM:261100	Megaloblastic anemia 1		273
HP:0004341	HP:0200118	Malabsorption of Vitamin B12	1	CUBN CL E G H	8029	2548	OMIM:261100	Megaloblastic anemia 1		273
HP:0004341	HP:0040126	Abnormal vitamin B12 level	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0004341	HP:0040126	Abnormal vitamin B12 level	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0004341	HP:0040126	Abnormal vitamin B12 level	1	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA		5
HP:0004341	HP:0040126	Abnormal vitamin B12 level	1	GUCY2C CL E G H	2984	4688	OMIM:614616	Diarrhea 6		12
HP:0004341	HP:0002912	Methylmalonic acidemia	1	HCFC1 CL E G H	3054	4839	OMIM:309541	Methylmalonic acidemia and homocysteinemia, Cblx type	.	100
HP:0004341	HP:0040126	Abnormal vitamin B12 level	1	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0004341	HP:0040126	Abnormal vitamin B12 level	1	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0004341	HP:0040126	Abnormal vitamin B12 level	1	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF		46
HP:0004341	HP:0040126	Abnormal vitamin B12 level	1	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0004341	HP:0002912	Methylmalonic acidemia	1	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type	.	46
HP:0004341	HP:0040126	Abnormal vitamin B12 level	1	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type	.	113
HP:0004341	HP:0002912	Methylmalonic acidemia	1	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type	.	113
HP:0004341	HP:0040126	Abnormal vitamin B12 level	1	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type	.	127
HP:0004341	HP:0002912	Methylmalonic acidemia	1	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type	.	127
HP:0004341	HP:0002912	Methylmalonic acidemia	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040281 - Very frequent	101
HP:0004341	HP:0040126	Abnormal vitamin B12 level	1	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.	101
HP:0004341	HP:0002912	Methylmalonic acidemia	1	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.	101
HP:0004341	HP:0040126	Abnormal vitamin B12 level	1	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type		50
HP:0004341	HP:0002912	Methylmalonic acidemia	1	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type	.	50
HP:0004341	HP:0002912	Methylmalonic acidemia	1	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	.
HP:0004341	HP:0040126	Abnormal vitamin B12 level	1	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia		5
HP:0004341	HP:0040126	Abnormal vitamin B12 level	1	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type		217
HP:0004341	HP:0040126	Abnormal vitamin B12 level	1	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type		88
HP:0004341	HP:0002912	Methylmalonic acidemia	1	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0004341	HP:0040126	Abnormal vitamin B12 level	1	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0004341	HP:0040126	Abnormal vitamin B12 level	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0004341	HP:0040126	Abnormal vitamin B12 level	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0004341	HP:0040126	Abnormal vitamin B12 level	1	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0004341	HP:0040126	Abnormal vitamin B12 level	1	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES		1
HP:0004341	HP:0002912	Methylmalonic acidemia	1	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	.	66
HP:0004341	HP:0002912	Methylmalonic acidemia	1	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040280 - Obligate	60
HP:0004341	HP:0100502	Vitamin B12 deficiency	2	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040283 - Occasional	135
HP:0004341	HP:0003145	Decreased adenosylcobalamin	2	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	.	53
HP:0004341	HP:0003223	Decreased methylcobalamin	2	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	HP:0040283 - Occasional	53
HP:0004341	HP:0100502	Vitamin B12 deficiency	2	AMN CL E G H	81693	14604	OMIM:618882	IMERSLUND-GRASBECK SYNDROME 2; IGS2		25
HP:0004341	HP:0100502	Vitamin B12 deficiency	2	AMN CL E G H	81693	14604	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040280 - Obligate	25
HP:0004341	HP:0100502	Vitamin B12 deficiency	2	CBLIF CL E G H	2694	4268	OMIM:261000	Intrinsic factor deficiency
HP:0004341	HP:0100502	Vitamin B12 deficiency	2	CUBN CL E G H	8029	2548	ORPHA:35858	Imerslund-Gräsbeck syndrome	HP:0040280 - Obligate	273
HP:0004341	HP:0100502	Vitamin B12 deficiency	2	CUBN CL E G H	8029	2548	OMIM:261100	Megaloblastic anemia 1		273
HP:0004341	HP:0100502	Vitamin B12 deficiency	2	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA		5
HP:0004341	HP:0100502	Vitamin B12 deficiency	2	GUCY2C CL E G H	2984	4688	OMIM:614616	Diarrhea 6	HP:0040283 - Occasional	12
HP:0004341	HP:0100502	Vitamin B12 deficiency	2	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	HP:0040283 - Occasional
HP:0004341	HP:0100502	Vitamin B12 deficiency	2	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	HP:0040283 - Occasional
HP:0004341	HP:0100502	Vitamin B12 deficiency	2	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF	HP:0040281 - Very frequent	46
HP:0004341	HP:0003223	Decreased methylcobalamin	2	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF	HP:0040281 - Very frequent	46
HP:0004341	HP:0003145	Decreased adenosylcobalamin	2	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF	HP:0040281 - Very frequent	46
HP:0004341	HP:0003223	Decreased methylcobalamin	2	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type	.	46
HP:0004341	HP:0003145	Decreased adenosylcobalamin	2	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type	.	46
HP:0004341	HP:0003145	Decreased adenosylcobalamin	2	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type	.	113
HP:0004341	HP:0003145	Decreased adenosylcobalamin	2	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type	.	127
HP:0004341	HP:0003145	Decreased adenosylcobalamin	2	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.	101
HP:0004341	HP:0003223	Decreased methylcobalamin	2	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.	101
HP:0004341	HP:0003145	Decreased adenosylcobalamin	2	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type	.	50
HP:0004341	HP:0003223	Decreased methylcobalamin	2	MMADHC CL E G H	27249	25221	OMIM:277410	Methylmalonic aciduria and homocystinuria, Cbld type	.	50
HP:0004341	HP:0003223	Decreased methylcobalamin	2	MTHFD1 CL E G H	4522	7432	OMIM:617780	Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia	.	5
HP:0004341	HP:0003223	Decreased methylcobalamin	2	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type	.	217
HP:0004341	HP:0003223	Decreased methylcobalamin	2	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type	.	88
HP:0004341	HP:0003145	Decreased adenosylcobalamin	2	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0004341	HP:0003223	Decreased methylcobalamin	2	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0004341	HP:0100502	Vitamin B12 deficiency	2	SLC19A1 CL E G H	6573	10937	OMIM:601775	FOLATE LEVEL IN ERYTHROCYTES		1