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:0025465	HP:0025465	Abnormal circulating beta globulin level	0	ALB CL E G H	213	399	OMIM:616000	Analbuminemia		104
HP:0025465	HP:0025465	Abnormal circulating beta globulin level	0	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0025465	HP:0025465	Abnormal circulating beta globulin level	0	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0025465	HP:0025465	Abnormal circulating beta globulin level	0	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0025465	HP:0025465	Abnormal circulating beta globulin level	0	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0025465	HP:0025465	Abnormal circulating beta globulin level	0	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0025465	HP:0025465	Abnormal circulating beta globulin level	0	TF CL E G H	7018	11740	OMIM:209300	ATRANSFERRINEMIA		45
HP:0025465	HP:0031439	Abnormal angiostatin level	1	CL E G H
HP:0025465	HP:0031438	Abnormal sex hormone-binding globulin level	1	CL E G H
HP:0025465	HP:0031300	Abnormal circulating properdin level	1	CL E G H
HP:0025465	HP:0032385	Abnormal circulating transferrin concentration	1	ALB CL E G H	213	399	OMIM:616000	Analbuminemia		104
HP:0025465	HP:0025345	Abnormality of circulating beta-2-microglobulin level	1	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0025465	HP:0025345	Abnormality of circulating beta-2-microglobulin level	1	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II		118
HP:0025465	HP:0025345	Abnormality of circulating beta-2-microglobulin level	1	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II		38
HP:0025465	HP:0025345	Abnormality of circulating beta-2-microglobulin level	1	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II		26
HP:0025465	HP:0025345	Abnormality of circulating beta-2-microglobulin level	1	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II		34
HP:0025465	HP:0032385	Abnormal circulating transferrin concentration	1	TF CL E G H	7018	11740	OMIM:209300	ATRANSFERRINEMIA		45
HP:0025465	HP:0032387	Reduced circulating transferrin concentration	2	CL E G H
HP:0025465	HP:0025346	Increased circulating beta-2-microglobulin level	2	CL E G H
HP:0025465	HP:0032386	Elevated circulating transferrin concentration	2	ALB CL E G H	213	399	OMIM:616000	Analbuminemia		104
HP:0025465	HP:0025347	Decreased circulating beta-2-microglobulin level	2	B2M CL E G H	567	914	OMIM:241600	Immunodeficiency 43		8
HP:0025465	HP:0025347	Decreased circulating beta-2-microglobulin level	2	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	118
HP:0025465	HP:0025347	Decreased circulating beta-2-microglobulin level	2	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	38
HP:0025465	HP:0025347	Decreased circulating beta-2-microglobulin level	2	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	26
HP:0025465	HP:0025347	Decreased circulating beta-2-microglobulin level	2	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	34
HP:0025465	HP:0012239	Atransferrinemia	2	TF CL E G H	7018	11740	OMIM:209300	ATRANSFERRINEMIA	.	45