Human Phenotype Ontology 
Grandparent Node:
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Abnormality of B cell physiology (HP:0005372)help
Grandparent Node:
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Abnormality of humoral immunity (HP:0005368)help
Parent Node:
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Abnormal immunoglobulin level (HP:0010701)help
..Starting node
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Decreased antibody level in blood (HP:0004313)help
Term ID: 4313
Name: Decreased antibody level in blood
Synonym: Decreased immunoglobulin level; Decreased serum immunoglobulin; Hypogammaglobulinemia; Immunoglobulin deficiency; Reduced immunoglobulin levels
Definition: An abnormally decreased level of immunoglobulin in blood.
Comments:
Reference: HP:0004313
Genes and Diseases:
 
       Child Nodes:
........expandIgA deficiency (HP:0002720) help
................... HP:0003460 Total immunoglobulin A deficiency
................... HP:0004433 Secretory IgA deficiency
................... HP:0011837 Partial IgA deficiency
........expandIgM deficiency (HP:0002850) help
........expandDysgammaglobulinemia (HP:0002961) help
........expandPanhypogammaglobulinemia (HP:0003139) help
........expandIgG deficiency (HP:0004315) help
................... HP:0008348 Immunoglobulin IgG2 deficiency
........expandAgammaglobulinemia (HP:0004432) help
........expandTransient hypogammaglobulinemia of infancy (HP:0005432) help
........expandIgE deficiency (HP:0005479) help

 Sister Nodes: 
..expandIncreased antibody level in blood (HP:0010702) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0004313HP:0004313Decreased antibody level in blood0ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA1438219605011
HP:0004313HP:0004313Decreased antibody level in blood0AK2 CL E G H20433355ORPHA11987362103020
HP:0004313HP:0004313Decreased antibody level in blood0ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM11626319358607144
HP:0004313HP:0004313Decreased antibody level in blood0ATM CL E G H472100ORPHA113248934795607585
HP:0004313HP:0004313Decreased antibody level in blood0ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM15233868300197
HP:0004313HP:0004313Decreased antibody level in blood0BCL10 CL E G H8915616098Immunodeficiency 37616098C4015195OMIM1362989603517
HP:0004313HP:0004313Decreased antibody level in blood0CARD11 CL E G H84433615206Immunodeficiency 11615206C3554686OMIM11430916393607210
HP:0004313HP:0004313Decreased antibody level in blood0CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA11330529426612753
HP:0004313HP:0004313Decreased antibody level in blood0CCND1 CL E G H59529073ORPHA17101582168461
HP:0004313HP:0004313Decreased antibody level in blood0CD19 CL E G H9301572ORPHA1101961633107265
HP:0004313HP:0004313Decreased antibody level in blood0CD19 CL E G H930613493Common variable immunodeficiency 3613493C3150738OMIM1101961633107265
HP:0004313HP:0004313Decreased antibody level in blood0CD27 CL E G H939615122Lymphoproliferative syndrome 2615122C3554540OMIM189611922186711
HP:0004313HP:0004313Decreased antibody level in blood0CD70 CL E G H970618261618261618261OMIM141411937602840
HP:0004313HP:0004313Decreased antibody level in blood0CD81 CL E G H9751572ORPHA12491701186845
HP:0004313HP:0004313Decreased antibody level in blood0CD81 CL E G H975613496Common variable immunodeficiency 6613496C3150741OMIM12491701186845
HP:0004313HP:0004313Decreased antibody level in blood0CDCA7 CL E G H838792268ORPHA164614628609937
HP:0004313HP:0004313Decreased antibody level in blood0CDCA7 CL E G H83879616910Immunodeficiency-centromeric instability-facial anomalies syndrome 3616910C4310799OMIM164614628609937
HP:0004313HP:0004313Decreased antibody level in blood0CFTR CL E G H1080586Al Gazali Khidr Prem Chandran syndromeORPHA1182822711884602421
HP:0004313HP:0004313Decreased antibody level in blood0CLCA4 CL E G H22802586Al Gazali Khidr Prem Chandran syndromeORPHA11212018616857
HP:0004313HP:0004313Decreased antibody level in blood0CR2 CL E G H13801572ORPHA1192332336120650
HP:0004313HP:0004313Decreased antibody level in blood0CTLA4 CL E G H1493616100Autoimmune lymphoproliferatiVe syndrome, type V616100C4015214OMIM1721142505123890
HP:0004313HP:0004313Decreased antibody level in blood0CXCR4 CL E G H7852193670Warts, hypogammaglobulinemia, infections, and myelokathexis193670C0472817OMIM115532561162643
HP:0004313HP:0004313Decreased antibody level in blood0DCTN4 CL E G H51164586Al Gazali Khidr Prem Chandran syndromeORPHA131615518614758
HP:0004313HP:0004313Decreased antibody level in blood0DNMT3B CL E G H17892268ORPHA1572672979602900
HP:0004313HP:0004313Decreased antibody level in blood0EXTL3 CL E G H2137617425Immunoskeletal dysplasia with neurodevelopmental abnormalities617425C4479452OMIM19973518605744
HP:0004313HP:0004313Decreased antibody level in blood0FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA13731723109612411
HP:0004313HP:0004313Decreased antibody level in blood0FLNA CL E G H231699811ORPHA127114723754300017
HP:0004313HP:0004313Decreased antibody level in blood0HELLS CL E G H30702268ORPHA16514861603946
HP:0004313HP:0004313Decreased antibody level in blood0HELLS CL E G H3070616911Immunodeficiency-centromeric instability-facial anomalies syndrome 4616911C4310798OMIM16514861603946
HP:0004313HP:0004313Decreased antibody level in blood0HYOU1 CL E G H10525233600Granulocytopenia with immunoglobulin abnormality233600C1856263OMIM124716931601746
HP:0004313HP:0004313Decreased antibody level in blood0ICOS CL E G H298511572ORPHA161085351604558
HP:0004313HP:0004313Decreased antibody level in blood0IKZF1 CL E G H10320616873Immunodeficiency, common variable, 13616873C4225173OMIM1384213176603023
HP:0004313HP:0004313Decreased antibody level in blood0IL21 CL E G H59067615767Common variable immunodeficiency 11615767C4014258OMIM13336005605384
HP:0004313HP:0004313Decreased antibody level in blood0IRF2BP2 CL E G H359948617765IMMUNODEFICIENCY, COMMON VARIABLE, 14617765C4540380OMIM136421729615332
HP:0004313HP:0004313Decreased antibody level in blood0LAT CL E G H27040617514Immunodeficiency 52617514C4479588OMIM11812518874602354
HP:0004313HP:0004313Decreased antibody level in blood0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM11513936826609458
HP:0004313HP:0004313Decreased antibody level in blood0MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM1817324862601336
HP:0004313HP:0004313Decreased antibody level in blood0MS4A1 CL E G H9311572ORPHA12147315112210
HP:0004313HP:0004313Decreased antibody level in blood0MS4A1 CL E G H931613495Common variable immunodeficiency 5613495C3150740OMIM12147315112210
HP:0004313HP:0004313Decreased antibody level in blood0MSN CL E G H4478300988Immunodeficiency 50300988C4310812OMIM121347373309845
HP:0004313HP:0004313Decreased antibody level in blood0MTHFD1 CL E G H4522617780COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA617780C4540434OMIM114447432172460
HP:0004313HP:0004313Decreased antibody level in blood0MYSM1 CL E G H114803618116BONE MARROW FAILURE SYNDROME 4618116CN253834OMIM132629401612176
HP:0004313HP:0004313Decreased antibody level in blood0NFE2L2 CL E G H4780617744IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA617744C4540293OMIM18567782600492
HP:0004313HP:0004313Decreased antibody level in blood0NFKB1 CL E G H47901572ORPHA136977794164011
HP:0004313HP:0004313Decreased antibody level in blood0NFKB1 CL E G H4790616576Immunodeficiency, common variable, 12616576C4225277OMIM136977794164011
HP:0004313HP:0004313Decreased antibody level in blood0NFKB2 CL E G H4791293978ORPHA1111657795164012
HP:0004313HP:0004313Decreased antibody level in blood0NFKB2 CL E G H47911572ORPHA1111657795164012
HP:0004313HP:0004313Decreased antibody level in blood0NFKB2 CL E G H4791615577Common variable immunodeficiency 10615577C3809991OMIM1111657795164012
HP:0004313HP:0004313Decreased antibody level in blood0NHEJ1 CL E G H79840169079ORPHA1167525737611290
HP:0004313HP:0004313Decreased antibody level in blood0PIK3R1 CL E G H5295616005Immunodeficiency 36616005C4014934OMIM1291568979171833
HP:0004313HP:0004313Decreased antibody level in blood0PRKCD CL E G H55801572ORPHA161449399176977
HP:0004313HP:0004313Decreased antibody level in blood0RBM8A CL E G H9939274000Radial aplasia-thrombocytopenia syndrome274000C0175703OMIM1142059905605313
HP:0004313HP:0004313Decreased antibody level in blood0RNF113A CL E G H7737300953Trichothiodystrophy 5, nonphotosensitive300953C4225420OMIM1117412974300951
HP:0004313HP:0004313Decreased antibody level in blood0RTEL1 CL E G H51750615190Dyskeratosis congenita, autosomal recessive, 5615190C3554656OMIM15468415888608833
HP:0004313HP:0004313Decreased antibody level in blood0SH2D1A CL E G H40682442ORPHA113124010820300490
HP:0004313HP:0004313Decreased antibody level in blood0SLC46A1 CL E G H11323590045ORPHA12316630521611672
HP:0004313HP:0004313Decreased antibody level in blood0SPINK5 CL E G H11005634Leber congenital amaurosisC0339527ORPHA18938315464605010
HP:0004313HP:0004313Decreased antibody level in blood0STAT3 CL E G H6774615952Autoimmune disease, multisystem, infantile-onset, 1615952C4014795OMIM115529111364102582
HP:0004313HP:0004313Decreased antibody level in blood0STX1A CL E G H6804586Al Gazali Khidr Prem Chandran syndromeORPHA1515511433186590
HP:0004313HP:0004313Decreased antibody level in blood0TFRC CL E G H7037616740Immunodeficiency 46616740C4225219OMIM1311511763190010
HP:0004313HP:0004313Decreased antibody level in blood0TGFB1 CL E G H7040586Al Gazali Khidr Prem Chandran syndromeORPHA1354711766190180
HP:0004313HP:0004313Decreased antibody level in blood0TNFRSF13B CL E G H234951572ORPHA15022818153604907
HP:0004313HP:0004313Decreased antibody level in blood0TNFRSF13C CL E G H1156501572ORPHA138217755606269
HP:0004313HP:0004313Decreased antibody level in blood0TNFSF12 CL E G H87421572ORPHA116711927602695
HP:0004313HP:0004313Decreased antibody level in blood0TRNT1 CL E G H51095616084Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay616084C4015172OMIM12624817341612907
HP:0004313HP:0004313Decreased antibody level in blood0XIAP CL E G H3312442ORPHA199361592300079
HP:0004313HP:0004313Decreased antibody level in blood0XIAP CL E G H331300635Lymphoproliferative syndrome 2, X-linked300635C1845076OMIM199361592300079
HP:0004313HP:0004313Decreased antibody level in blood0ZBTB24 CL E G H98412268ORPHA11813421143614064
HP:0004313HP:0004313Decreased antibody level in blood0ZBTB24 CL E G H9841614069Immunodeficiency-centromeric instability-facial anomalies syndrome 2614069C3279748OMIM11813421143614064
HP:0004313HP:0004313Decreased antibody level in blood1ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA1438219605011
HP:0004313HP:0004313Decreased antibody level in blood1AK2 CL E G H20433355ORPHA11987362103020
HP:0004313HP:0004313Decreased antibody level in blood1ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM11626319358607144
HP:0004313HP:0004313Decreased antibody level in blood1ATM CL E G H472100ORPHA113248934795607585
HP:0004313HP:0004313Decreased antibody level in blood1ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM15233868300197
HP:0004313HP:0004313Decreased antibody level in blood1BCL10 CL E G H8915616098Immunodeficiency 37616098C4015195OMIM1362989603517
HP:0004313HP:0004313Decreased antibody level in blood1CARD11 CL E G H84433615206Immunodeficiency 11615206C3554686OMIM11430916393607210
HP:0004313HP:0004313Decreased antibody level in blood1CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA11330529426612753
HP:0004313HP:0004313Decreased antibody level in blood1CCND1 CL E G H59529073ORPHA17101582168461
HP:0004313HP:0004313Decreased antibody level in blood1CD19 CL E G H9301572ORPHA1101961633107265
HP:0004313HP:0004313Decreased antibody level in blood1CD19 CL E G H930613493Common variable immunodeficiency 3613493C3150738OMIM1101961633107265
HP:0004313HP:0004313Decreased antibody level in blood1CD27 CL E G H939615122Lymphoproliferative syndrome 2615122C3554540OMIM189611922186711
HP:0004313HP:0004313Decreased antibody level in blood1CD70 CL E G H970618261618261618261OMIM141411937602840
HP:0004313HP:0004313Decreased antibody level in blood1CD81 CL E G H9751572ORPHA12491701186845
HP:0004313HP:0004313Decreased antibody level in blood1CD81 CL E G H975613496Common variable immunodeficiency 6613496C3150741OMIM12491701186845
HP:0004313HP:0004313Decreased antibody level in blood1CDCA7 CL E G H838792268ORPHA164614628609937
HP:0004313HP:0004313Decreased antibody level in blood1CDCA7 CL E G H83879616910Immunodeficiency-centromeric instability-facial anomalies syndrome 3616910C4310799OMIM164614628609937
HP:0004313HP:0004313Decreased antibody level in blood1CFTR CL E G H1080586Al Gazali Khidr Prem Chandran syndromeORPHA1182822711884602421
HP:0004313HP:0004313Decreased antibody level in blood1CLCA4 CL E G H22802586Al Gazali Khidr Prem Chandran syndromeORPHA11212018616857
HP:0004313HP:0004313Decreased antibody level in blood1CR2 CL E G H13801572ORPHA1192332336120650
HP:0004313HP:0004313Decreased antibody level in blood1CTLA4 CL E G H1493616100Autoimmune lymphoproliferatiVe syndrome, type V616100C4015214OMIM1721142505123890
HP:0004313HP:0004313Decreased antibody level in blood1CXCR4 CL E G H7852193670Warts, hypogammaglobulinemia, infections, and myelokathexis193670C0472817OMIM115532561162643
HP:0004313HP:0004313Decreased antibody level in blood1DCTN4 CL E G H51164586Al Gazali Khidr Prem Chandran syndromeORPHA131615518614758
HP:0004313HP:0004313Decreased antibody level in blood1DNMT3B CL E G H17892268ORPHA1572672979602900
HP:0004313HP:0004313Decreased antibody level in blood1EXTL3 CL E G H2137617425Immunoskeletal dysplasia with neurodevelopmental abnormalities617425C4479452OMIM19973518605744
HP:0004313HP:0004313Decreased antibody level in blood1FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA13731723109612411
HP:0004313HP:0004313Decreased antibody level in blood1FLNA CL E G H231699811ORPHA127114723754300017
HP:0004313HP:0004313Decreased antibody level in blood1HELLS CL E G H30702268ORPHA16514861603946
HP:0004313HP:0004313Decreased antibody level in blood1HELLS CL E G H3070616911Immunodeficiency-centromeric instability-facial anomalies syndrome 4616911C4310798OMIM16514861603946
HP:0004313HP:0004313Decreased antibody level in blood1HYOU1 CL E G H10525233600Granulocytopenia with immunoglobulin abnormality233600C1856263OMIM124716931601746
HP:0004313HP:0004313Decreased antibody level in blood1ICOS CL E G H298511572ORPHA161085351604558
HP:0004313HP:0004313Decreased antibody level in blood1IKZF1 CL E G H10320616873Immunodeficiency, common variable, 13616873C4225173OMIM1384213176603023
HP:0004313HP:0004313Decreased antibody level in blood1IL21 CL E G H59067615767Common variable immunodeficiency 11615767C4014258OMIM13336005605384
HP:0004313HP:0004313Decreased antibody level in blood1IRF2BP2 CL E G H359948617765IMMUNODEFICIENCY, COMMON VARIABLE, 14617765C4540380OMIM136421729615332
HP:0004313HP:0004313Decreased antibody level in blood1LAT CL E G H27040617514Immunodeficiency 52617514C4479588OMIM11812518874602354
HP:0004313HP:0004313Decreased antibody level in blood1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM11513936826609458
HP:0004313HP:0004313Decreased antibody level in blood1MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM1817324862601336
HP:0004313HP:0004313Decreased antibody level in blood1MS4A1 CL E G H9311572ORPHA12147315112210
HP:0004313HP:0004313Decreased antibody level in blood1MS4A1 CL E G H931613495Common variable immunodeficiency 5613495C3150740OMIM12147315112210
HP:0004313HP:0004313Decreased antibody level in blood1MSN CL E G H4478300988Immunodeficiency 50300988C4310812OMIM121347373309845
HP:0004313HP:0004313Decreased antibody level in blood1MTHFD1 CL E G H4522617780COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA617780C4540434OMIM114447432172460
HP:0004313HP:0004313Decreased antibody level in blood1MYSM1 CL E G H114803618116BONE MARROW FAILURE SYNDROME 4618116CN253834OMIM132629401612176
HP:0004313HP:0004313Decreased antibody level in blood1NFE2L2 CL E G H4780617744IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA617744C4540293OMIM18567782600492
HP:0004313HP:0004313Decreased antibody level in blood1NFKB1 CL E G H47901572ORPHA136977794164011
HP:0004313HP:0004313Decreased antibody level in blood1NFKB1 CL E G H4790616576Immunodeficiency, common variable, 12616576C4225277OMIM136977794164011
HP:0004313HP:0004313Decreased antibody level in blood1NFKB2 CL E G H4791293978ORPHA1111657795164012
HP:0004313HP:0004313Decreased antibody level in blood1NFKB2 CL E G H47911572ORPHA1111657795164012
HP:0004313HP:0004313Decreased antibody level in blood1NFKB2 CL E G H4791615577Common variable immunodeficiency 10615577C3809991OMIM1111657795164012
HP:0004313HP:0004313Decreased antibody level in blood1NHEJ1 CL E G H79840169079ORPHA1167525737611290
HP:0004313HP:0004313Decreased antibody level in blood1PIK3R1 CL E G H5295616005Immunodeficiency 36616005C4014934OMIM1291568979171833
HP:0004313HP:0004313Decreased antibody level in blood1PRKCD CL E G H55801572ORPHA161449399176977
HP:0004313HP:0004313Decreased antibody level in blood1RBM8A CL E G H9939274000Radial aplasia-thrombocytopenia syndrome274000C0175703OMIM1142059905605313
HP:0004313HP:0004313Decreased antibody level in blood1RNF113A CL E G H7737300953Trichothiodystrophy 5, nonphotosensitive300953C4225420OMIM1117412974300951
HP:0004313HP:0004313Decreased antibody level in blood1RTEL1 CL E G H51750615190Dyskeratosis congenita, autosomal recessive, 5615190C3554656OMIM15468415888608833
HP:0004313HP:0004313Decreased antibody level in blood1SH2D1A CL E G H40682442ORPHA113124010820300490
HP:0004313HP:0004313Decreased antibody level in blood1SLC46A1 CL E G H11323590045ORPHA12316630521611672
HP:0004313HP:0004313Decreased antibody level in blood1SPINK5 CL E G H11005634Leber congenital amaurosisC0339527ORPHA18938315464605010
HP:0004313HP:0004313Decreased antibody level in blood1STAT3 CL E G H6774615952Autoimmune disease, multisystem, infantile-onset, 1615952C4014795OMIM115529111364102582
HP:0004313HP:0004313Decreased antibody level in blood1STX1A CL E G H6804586Al Gazali Khidr Prem Chandran syndromeORPHA1515511433186590
HP:0004313HP:0004313Decreased antibody level in blood1TFRC CL E G H7037616740Immunodeficiency 46616740C4225219OMIM1311511763190010
HP:0004313HP:0004313Decreased antibody level in blood1TGFB1 CL E G H7040586Al Gazali Khidr Prem Chandran syndromeORPHA1354711766190180
HP:0004313HP:0004313Decreased antibody level in blood1TNFRSF13B CL E G H234951572ORPHA15022818153604907
HP:0004313HP:0004313Decreased antibody level in blood1TNFRSF13C CL E G H1156501572ORPHA138217755606269
HP:0004313HP:0004313Decreased antibody level in blood1TNFSF12 CL E G H87421572ORPHA116711927602695
HP:0004313HP:0004313Decreased antibody level in blood1TRNT1 CL E G H51095616084Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay616084C4015172OMIM12624817341612907
HP:0004313HP:0004313Decreased antibody level in blood1XIAP CL E G H3312442ORPHA199361592300079
HP:0004313HP:0004313Decreased antibody level in blood1XIAP CL E G H331300635Lymphoproliferative syndrome 2, X-linked300635C1845076OMIM199361592300079
HP:0004313HP:0004313Decreased antibody level in blood1ZBTB24 CL E G H98412268ORPHA11813421143614064
HP:0004313HP:0004313Decreased antibody level in blood1ZBTB24 CL E G H9841614069Immunodeficiency-centromeric instability-facial anomalies syndrome 2614069C3279748OMIM11813421143614064
HP:0004313HP:0004313Decreased antibody level in blood2ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA1438219605011
HP:0004313HP:0004313Decreased antibody level in blood2AK2 CL E G H20433355ORPHA11987362103020
HP:0004313HP:0004313Decreased antibody level in blood2ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM11626319358607144
HP:0004313HP:0004313Decreased antibody level in blood2ATM CL E G H472100ORPHA113248934795607585
HP:0004313HP:0004313Decreased antibody level in blood2ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM15233868300197
HP:0004313HP:0004313Decreased antibody level in blood2BCL10 CL E G H8915616098Immunodeficiency 37616098C4015195OMIM1362989603517
HP:0004313HP:0004313Decreased antibody level in blood2CARD11 CL E G H84433615206Immunodeficiency 11615206C3554686OMIM11430916393607210
HP:0004313HP:0004313Decreased antibody level in blood2CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA11330529426612753
HP:0004313HP:0004313Decreased antibody level in blood2CCND1 CL E G H59529073ORPHA17101582168461
HP:0004313HP:0004313Decreased antibody level in blood2CD19 CL E G H9301572ORPHA1101961633107265
HP:0004313HP:0004313Decreased antibody level in blood2CD19 CL E G H930613493Common variable immunodeficiency 3613493C3150738OMIM1101961633107265
HP:0004313HP:0004313Decreased antibody level in blood2CD27 CL E G H939615122Lymphoproliferative syndrome 2615122C3554540OMIM189611922186711
HP:0004313HP:0004313Decreased antibody level in blood2CD70 CL E G H970618261618261618261OMIM141411937602840
HP:0004313HP:0004313Decreased antibody level in blood2CD81 CL E G H9751572ORPHA12491701186845
HP:0004313HP:0004313Decreased antibody level in blood2CD81 CL E G H975613496Common variable immunodeficiency 6613496C3150741OMIM12491701186845
HP:0004313HP:0004313Decreased antibody level in blood2CDCA7 CL E G H838792268ORPHA164614628609937
HP:0004313HP:0004313Decreased antibody level in blood2CDCA7 CL E G H83879616910Immunodeficiency-centromeric instability-facial anomalies syndrome 3616910C4310799OMIM164614628609937
HP:0004313HP:0004313Decreased antibody level in blood2CFTR CL E G H1080586Al Gazali Khidr Prem Chandran syndromeORPHA1182822711884602421
HP:0004313HP:0004313Decreased antibody level in blood2CLCA4 CL E G H22802586Al Gazali Khidr Prem Chandran syndromeORPHA11212018616857
HP:0004313HP:0004313Decreased antibody level in blood2CR2 CL E G H13801572ORPHA1192332336120650
HP:0004313HP:0004313Decreased antibody level in blood2CTLA4 CL E G H1493616100Autoimmune lymphoproliferatiVe syndrome, type V616100C4015214OMIM1721142505123890
HP:0004313HP:0004313Decreased antibody level in blood2CXCR4 CL E G H7852193670Warts, hypogammaglobulinemia, infections, and myelokathexis193670C0472817OMIM115532561162643
HP:0004313HP:0004313Decreased antibody level in blood2DCTN4 CL E G H51164586Al Gazali Khidr Prem Chandran syndromeORPHA131615518614758
HP:0004313HP:0004313Decreased antibody level in blood2DNMT3B CL E G H17892268ORPHA1572672979602900
HP:0004313HP:0004313Decreased antibody level in blood2EXTL3 CL E G H2137617425Immunoskeletal dysplasia with neurodevelopmental abnormalities617425C4479452OMIM19973518605744
HP:0004313HP:0004313Decreased antibody level in blood2FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA13731723109612411
HP:0004313HP:0004313Decreased antibody level in blood2FLNA CL E G H231699811ORPHA127114723754300017
HP:0004313HP:0004313Decreased antibody level in blood2HELLS CL E G H30702268ORPHA16514861603946
HP:0004313HP:0004313Decreased antibody level in blood2HELLS CL E G H3070616911Immunodeficiency-centromeric instability-facial anomalies syndrome 4616911C4310798OMIM16514861603946
HP:0004313HP:0004313Decreased antibody level in blood2HYOU1 CL E G H10525233600Granulocytopenia with immunoglobulin abnormality233600C1856263OMIM124716931601746
HP:0004313HP:0004313Decreased antibody level in blood2ICOS CL E G H298511572ORPHA161085351604558
HP:0004313HP:0004313Decreased antibody level in blood2IKZF1 CL E G H10320616873Immunodeficiency, common variable, 13616873C4225173OMIM1384213176603023
HP:0004313HP:0004313Decreased antibody level in blood2IL21 CL E G H59067615767Common variable immunodeficiency 11615767C4014258OMIM13336005605384
HP:0004313HP:0004313Decreased antibody level in blood2IRF2BP2 CL E G H359948617765IMMUNODEFICIENCY, COMMON VARIABLE, 14617765C4540380OMIM136421729615332
HP:0004313HP:0004313Decreased antibody level in blood2LAT CL E G H27040617514Immunodeficiency 52617514C4479588OMIM11812518874602354
HP:0004313HP:0004313Decreased antibody level in blood2MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM11513936826609458
HP:0004313HP:0004313Decreased antibody level in blood2MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM1817324862601336
HP:0004313HP:0004313Decreased antibody level in blood2MS4A1 CL E G H9311572ORPHA12147315112210
HP:0004313HP:0004313Decreased antibody level in blood2MS4A1 CL E G H931613495Common variable immunodeficiency 5613495C3150740OMIM12147315112210
HP:0004313HP:0004313Decreased antibody level in blood2MSN CL E G H4478300988Immunodeficiency 50300988C4310812OMIM121347373309845
HP:0004313HP:0004313Decreased antibody level in blood2MTHFD1 CL E G H4522617780COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA617780C4540434OMIM114447432172460
HP:0004313HP:0004313Decreased antibody level in blood2MYSM1 CL E G H114803618116BONE MARROW FAILURE SYNDROME 4618116CN253834OMIM132629401612176
HP:0004313HP:0004313Decreased antibody level in blood2NFE2L2 CL E G H4780617744IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA617744C4540293OMIM18567782600492
HP:0004313HP:0004313Decreased antibody level in blood2NFKB1 CL E G H47901572ORPHA136977794164011
HP:0004313HP:0004313Decreased antibody level in blood2NFKB1 CL E G H4790616576Immunodeficiency, common variable, 12616576C4225277OMIM136977794164011
HP:0004313HP:0004313Decreased antibody level in blood2NFKB2 CL E G H4791293978ORPHA1111657795164012
HP:0004313HP:0004313Decreased antibody level in blood2NFKB2 CL E G H47911572ORPHA1111657795164012
HP:0004313HP:0004313Decreased antibody level in blood2NFKB2 CL E G H4791615577Common variable immunodeficiency 10615577C3809991OMIM1111657795164012
HP:0004313HP:0004313Decreased antibody level in blood2NHEJ1 CL E G H79840169079ORPHA1167525737611290
HP:0004313HP:0004313Decreased antibody level in blood2PIK3R1 CL E G H5295616005Immunodeficiency 36616005C4014934OMIM1291568979171833
HP:0004313HP:0004313Decreased antibody level in blood2PRKCD CL E G H55801572ORPHA161449399176977
HP:0004313HP:0004313Decreased antibody level in blood2RBM8A CL E G H9939274000Radial aplasia-thrombocytopenia syndrome274000C0175703OMIM1142059905605313
HP:0004313HP:0004313Decreased antibody level in blood2RNF113A CL E G H7737300953Trichothiodystrophy 5, nonphotosensitive300953C4225420OMIM1117412974300951
HP:0004313HP:0004313Decreased antibody level in blood2RTEL1 CL E G H51750615190Dyskeratosis congenita, autosomal recessive, 5615190C3554656OMIM15468415888608833
HP:0004313HP:0004313Decreased antibody level in blood2SH2D1A CL E G H40682442ORPHA113124010820300490
HP:0004313HP:0004313Decreased antibody level in blood2SLC46A1 CL E G H11323590045ORPHA12316630521611672
HP:0004313HP:0004313Decreased antibody level in blood2SPINK5 CL E G H11005634Leber congenital amaurosisC0339527ORPHA18938315464605010
HP:0004313HP:0004313Decreased antibody level in blood2STAT3 CL E G H6774615952Autoimmune disease, multisystem, infantile-onset, 1615952C4014795OMIM115529111364102582
HP:0004313HP:0004313Decreased antibody level in blood2STX1A CL E G H6804586Al Gazali Khidr Prem Chandran syndromeORPHA1515511433186590
HP:0004313HP:0004313Decreased antibody level in blood2TFRC CL E G H7037616740Immunodeficiency 46616740C4225219OMIM1311511763190010
HP:0004313HP:0004313Decreased antibody level in blood2TGFB1 CL E G H7040586Al Gazali Khidr Prem Chandran syndromeORPHA1354711766190180
HP:0004313HP:0004313Decreased antibody level in blood2TNFRSF13B CL E G H234951572ORPHA15022818153604907
HP:0004313HP:0004313Decreased antibody level in blood2TNFRSF13C CL E G H1156501572ORPHA138217755606269
HP:0004313HP:0004313Decreased antibody level in blood2TNFSF12 CL E G H87421572ORPHA116711927602695
HP:0004313HP:0004313Decreased antibody level in blood2TRNT1 CL E G H51095616084Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay616084C4015172OMIM12624817341612907
HP:0004313HP:0004313Decreased antibody level in blood2XIAP CL E G H3312442ORPHA199361592300079
HP:0004313HP:0004313Decreased antibody level in blood2XIAP CL E G H331300635Lymphoproliferative syndrome 2, X-linked300635C1845076OMIM199361592300079
HP:0004313HP:0004313Decreased antibody level in blood2ZBTB24 CL E G H98412268ORPHA11813421143614064
HP:0004313HP:0004313Decreased antibody level in blood2ZBTB24 CL E G H9841614069Immunodeficiency-centromeric instability-facial anomalies syndrome 2614069C3279748OMIM11813421143614064
HP:0004313HP:0004313Decreased antibody level in blood3ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA1438219605011
HP:0004313HP:0004313Decreased antibody level in blood3AK2 CL E G H20433355ORPHA11987362103020
HP:0004313HP:0004313Decreased antibody level in blood3ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM11626319358607144
HP:0004313HP:0004313Decreased antibody level in blood3ATM CL E G H472100ORPHA113248934795607585
HP:0004313HP:0004313Decreased antibody level in blood3ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM15233868300197
HP:0004313HP:0004313Decreased antibody level in blood3BCL10 CL E G H8915616098Immunodeficiency 37616098C4015195OMIM1362989603517
HP:0004313HP:0004313Decreased antibody level in blood3CARD11 CL E G H84433615206Immunodeficiency 11615206C3554686OMIM11430916393607210
HP:0004313HP:0004313Decreased antibody level in blood3CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA11330529426612753
HP:0004313HP:0004313Decreased antibody level in blood3CCND1 CL E G H59529073ORPHA17101582168461
HP:0004313HP:0004313Decreased antibody level in blood3CD19 CL E G H9301572ORPHA1101961633107265
HP:0004313HP:0004313Decreased antibody level in blood3CD19 CL E G H930613493Common variable immunodeficiency 3613493C3150738OMIM1101961633107265
HP:0004313HP:0004313Decreased antibody level in blood3CD27 CL E G H939615122Lymphoproliferative syndrome 2615122C3554540OMIM189611922186711
HP:0004313HP:0004313Decreased antibody level in blood3CD70 CL E G H970618261618261618261OMIM141411937602840
HP:0004313HP:0004313Decreased antibody level in blood3CD81 CL E G H9751572ORPHA12491701186845
HP:0004313HP:0004313Decreased antibody level in blood3CD81 CL E G H975613496Common variable immunodeficiency 6613496C3150741OMIM12491701186845
HP:0004313HP:0004313Decreased antibody level in blood3CDCA7 CL E G H838792268ORPHA164614628609937
HP:0004313HP:0004313Decreased antibody level in blood3CDCA7 CL E G H83879616910Immunodeficiency-centromeric instability-facial anomalies syndrome 3616910C4310799OMIM164614628609937
HP:0004313HP:0004313Decreased antibody level in blood3CFTR CL E G H1080586Al Gazali Khidr Prem Chandran syndromeORPHA1182822711884602421
HP:0004313HP:0004313Decreased antibody level in blood3CLCA4 CL E G H22802586Al Gazali Khidr Prem Chandran syndromeORPHA11212018616857
HP:0004313HP:0004313Decreased antibody level in blood3CR2 CL E G H13801572ORPHA1192332336120650
HP:0004313HP:0004313Decreased antibody level in blood3CTLA4 CL E G H1493616100Autoimmune lymphoproliferatiVe syndrome, type V616100C4015214OMIM1721142505123890
HP:0004313HP:0004313Decreased antibody level in blood3CXCR4 CL E G H7852193670Warts, hypogammaglobulinemia, infections, and myelokathexis193670C0472817OMIM115532561162643
HP:0004313HP:0004313Decreased antibody level in blood3DCTN4 CL E G H51164586Al Gazali Khidr Prem Chandran syndromeORPHA131615518614758
HP:0004313HP:0004313Decreased antibody level in blood3DNMT3B CL E G H17892268ORPHA1572672979602900
HP:0004313HP:0004313Decreased antibody level in blood3EXTL3 CL E G H2137617425Immunoskeletal dysplasia with neurodevelopmental abnormalities617425C4479452OMIM19973518605744
HP:0004313HP:0004313Decreased antibody level in blood3FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA13731723109612411
HP:0004313HP:0004313Decreased antibody level in blood3FLNA CL E G H231699811ORPHA127114723754300017
HP:0004313HP:0004313Decreased antibody level in blood3HELLS CL E G H30702268ORPHA16514861603946
HP:0004313HP:0004313Decreased antibody level in blood3HELLS CL E G H3070616911Immunodeficiency-centromeric instability-facial anomalies syndrome 4616911C4310798OMIM16514861603946
HP:0004313HP:0004313Decreased antibody level in blood3HYOU1 CL E G H10525233600Granulocytopenia with immunoglobulin abnormality233600C1856263OMIM124716931601746
HP:0004313HP:0004313Decreased antibody level in blood3ICOS CL E G H298511572ORPHA161085351604558
HP:0004313HP:0004313Decreased antibody level in blood3IKZF1 CL E G H10320616873Immunodeficiency, common variable, 13616873C4225173OMIM1384213176603023
HP:0004313HP:0004313Decreased antibody level in blood3IL21 CL E G H59067615767Common variable immunodeficiency 11615767C4014258OMIM13336005605384
HP:0004313HP:0004313Decreased antibody level in blood3IRF2BP2 CL E G H359948617765IMMUNODEFICIENCY, COMMON VARIABLE, 14617765C4540380OMIM136421729615332
HP:0004313HP:0004313Decreased antibody level in blood3LAT CL E G H27040617514Immunodeficiency 52617514C4479588OMIM11812518874602354
HP:0004313HP:0004313Decreased antibody level in blood3MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM11513936826609458
HP:0004313HP:0004313Decreased antibody level in blood3MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM1817324862601336
HP:0004313HP:0004313Decreased antibody level in blood3MS4A1 CL E G H9311572ORPHA12147315112210
HP:0004313HP:0004313Decreased antibody level in blood3MS4A1 CL E G H931613495Common variable immunodeficiency 5613495C3150740OMIM12147315112210
HP:0004313HP:0004313Decreased antibody level in blood3MSN CL E G H4478300988Immunodeficiency 50300988C4310812OMIM121347373309845
HP:0004313HP:0004313Decreased antibody level in blood3MTHFD1 CL E G H4522617780COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA617780C4540434OMIM114447432172460
HP:0004313HP:0004313Decreased antibody level in blood3MYSM1 CL E G H114803618116BONE MARROW FAILURE SYNDROME 4618116CN253834OMIM132629401612176
HP:0004313HP:0004313Decreased antibody level in blood3NFE2L2 CL E G H4780617744IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA617744C4540293OMIM18567782600492
HP:0004313HP:0004313Decreased antibody level in blood3NFKB1 CL E G H47901572ORPHA136977794164011
HP:0004313HP:0004313Decreased antibody level in blood3NFKB1 CL E G H4790616576Immunodeficiency, common variable, 12616576C4225277OMIM136977794164011
HP:0004313HP:0004313Decreased antibody level in blood3NFKB2 CL E G H47911572ORPHA1111657795164012
HP:0004313HP:0004313Decreased antibody level in blood3NFKB2 CL E G H4791293978ORPHA1111657795164012
HP:0004313HP:0004313Decreased antibody level in blood3NFKB2 CL E G H4791615577Common variable immunodeficiency 10615577C3809991OMIM1111657795164012
HP:0004313HP:0004313Decreased antibody level in blood3NHEJ1 CL E G H79840169079ORPHA1167525737611290
HP:0004313HP:0004313Decreased antibody level in blood3PIK3R1 CL E G H5295616005Immunodeficiency 36616005C4014934OMIM1291568979171833
HP:0004313HP:0004313Decreased antibody level in blood3PRKCD CL E G H55801572ORPHA161449399176977
HP:0004313HP:0004313Decreased antibody level in blood3RBM8A CL E G H9939274000Radial aplasia-thrombocytopenia syndrome274000C0175703OMIM1142059905605313
HP:0004313HP:0004313Decreased antibody level in blood3RNF113A CL E G H7737300953Trichothiodystrophy 5, nonphotosensitive300953C4225420OMIM1117412974300951
HP:0004313HP:0004313Decreased antibody level in blood3RTEL1 CL E G H51750615190Dyskeratosis congenita, autosomal recessive, 5615190C3554656OMIM15468415888608833
HP:0004313HP:0004313Decreased antibody level in blood3SH2D1A CL E G H40682442ORPHA113124010820300490
HP:0004313HP:0004313Decreased antibody level in blood3SLC46A1 CL E G H11323590045ORPHA12316630521611672
HP:0004313HP:0004313Decreased antibody level in blood3SPINK5 CL E G H11005634Leber congenital amaurosisC0339527ORPHA18938315464605010
HP:0004313HP:0004313Decreased antibody level in blood3STAT3 CL E G H6774615952Autoimmune disease, multisystem, infantile-onset, 1615952C4014795OMIM115529111364102582
HP:0004313HP:0004313Decreased antibody level in blood3STX1A CL E G H6804586Al Gazali Khidr Prem Chandran syndromeORPHA1515511433186590
HP:0004313HP:0004313Decreased antibody level in blood3TFRC CL E G H7037616740Immunodeficiency 46616740C4225219OMIM1311511763190010
HP:0004313HP:0004313Decreased antibody level in blood3TGFB1 CL E G H7040586Al Gazali Khidr Prem Chandran syndromeORPHA1354711766190180
HP:0004313HP:0004313Decreased antibody level in blood3TNFRSF13B CL E G H234951572ORPHA15022818153604907
HP:0004313HP:0004313Decreased antibody level in blood3TNFRSF13C CL E G H1156501572ORPHA138217755606269
HP:0004313HP:0004313Decreased antibody level in blood3TNFSF12 CL E G H87421572ORPHA116711927602695
HP:0004313HP:0004313Decreased antibody level in blood3TRNT1 CL E G H51095616084Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay616084C4015172OMIM12624817341612907
HP:0004313HP:0004313Decreased antibody level in blood3XIAP CL E G H3312442ORPHA199361592300079
HP:0004313HP:0004313Decreased antibody level in blood3XIAP CL E G H331300635Lymphoproliferative syndrome 2, X-linked300635C1845076OMIM199361592300079
HP:0004313HP:0004313Decreased antibody level in blood3ZBTB24 CL E G H98412268ORPHA11813421143614064
HP:0004313HP:0004313Decreased antibody level in blood3ZBTB24 CL E G H9841614069Immunodeficiency-centromeric instability-facial anomalies syndrome 2614069C3279748OMIM11813421143614064
HP:0004313HP:0004313Decreased antibody level in blood4ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA1438219605011
HP:0004313HP:0004313Decreased antibody level in blood4AK2 CL E G H20433355ORPHA11987362103020
HP:0004313HP:0004313Decreased antibody level in blood4ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM11626319358607144
HP:0004313HP:0004313Decreased antibody level in blood4ATM CL E G H472100ORPHA113248934795607585
HP:0004313HP:0004313Decreased antibody level in blood4ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM15233868300197
HP:0004313HP:0004313Decreased antibody level in blood4BCL10 CL E G H8915616098Immunodeficiency 37616098C4015195OMIM1362989603517
HP:0004313HP:0004313Decreased antibody level in blood4CARD11 CL E G H84433615206Immunodeficiency 11615206C3554686OMIM11430916393607210
HP:0004313HP:0004313Decreased antibody level in blood4CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA11330529426612753
HP:0004313HP:0004313Decreased antibody level in blood4CCND1 CL E G H59529073ORPHA17101582168461
HP:0004313HP:0004313Decreased antibody level in blood4CD19 CL E G H9301572ORPHA1101961633107265
HP:0004313HP:0004313Decreased antibody level in blood4CD19 CL E G H930613493Common variable immunodeficiency 3613493C3150738OMIM1101961633107265
HP:0004313HP:0004313Decreased antibody level in blood4CD27 CL E G H939615122Lymphoproliferative syndrome 2615122C3554540OMIM189611922186711
HP:0004313HP:0004313Decreased antibody level in blood4CD70 CL E G H970618261618261618261OMIM141411937602840
HP:0004313HP:0004313Decreased antibody level in blood4CD81 CL E G H9751572ORPHA12491701186845
HP:0004313HP:0004313Decreased antibody level in blood4CD81 CL E G H975613496Common variable immunodeficiency 6613496C3150741OMIM12491701186845
HP:0004313HP:0004313Decreased antibody level in blood4CDCA7 CL E G H838792268ORPHA164614628609937
HP:0004313HP:0004313Decreased antibody level in blood4CDCA7 CL E G H83879616910Immunodeficiency-centromeric instability-facial anomalies syndrome 3616910C4310799OMIM164614628609937
HP:0004313HP:0004313Decreased antibody level in blood4CFTR CL E G H1080586Al Gazali Khidr Prem Chandran syndromeORPHA1182822711884602421
HP:0004313HP:0004313Decreased antibody level in blood4CLCA4 CL E G H22802586Al Gazali Khidr Prem Chandran syndromeORPHA11212018616857
HP:0004313HP:0004313Decreased antibody level in blood4CR2 CL E G H13801572ORPHA1192332336120650
HP:0004313HP:0004313Decreased antibody level in blood4CTLA4 CL E G H1493616100Autoimmune lymphoproliferatiVe syndrome, type V616100C4015214OMIM1721142505123890
HP:0004313HP:0004313Decreased antibody level in blood4CXCR4 CL E G H7852193670Warts, hypogammaglobulinemia, infections, and myelokathexis193670C0472817OMIM115532561162643
HP:0004313HP:0004313Decreased antibody level in blood4DCTN4 CL E G H51164586Al Gazali Khidr Prem Chandran syndromeORPHA131615518614758
HP:0004313HP:0004313Decreased antibody level in blood4DNMT3B CL E G H17892268ORPHA1572672979602900
HP:0004313HP:0004313Decreased antibody level in blood4EXTL3 CL E G H2137617425Immunoskeletal dysplasia with neurodevelopmental abnormalities617425C4479452OMIM19973518605744
HP:0004313HP:0004313Decreased antibody level in blood4FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA13731723109612411
HP:0004313HP:0004313Decreased antibody level in blood4FLNA CL E G H231699811ORPHA127114723754300017
HP:0004313HP:0004313Decreased antibody level in blood4HELLS CL E G H30702268ORPHA16514861603946
HP:0004313HP:0004313Decreased antibody level in blood4HELLS CL E G H3070616911Immunodeficiency-centromeric instability-facial anomalies syndrome 4616911C4310798OMIM16514861603946
HP:0004313HP:0004313Decreased antibody level in blood4HYOU1 CL E G H10525233600Granulocytopenia with immunoglobulin abnormality233600C1856263OMIM124716931601746
HP:0004313HP:0004313Decreased antibody level in blood4ICOS CL E G H298511572ORPHA161085351604558
HP:0004313HP:0004313Decreased antibody level in blood4IKZF1 CL E G H10320616873Immunodeficiency, common variable, 13616873C4225173OMIM1384213176603023
HP:0004313HP:0004313Decreased antibody level in blood4IL21 CL E G H59067615767Common variable immunodeficiency 11615767C4014258OMIM13336005605384
HP:0004313HP:0004313Decreased antibody level in blood4IRF2BP2 CL E G H359948617765IMMUNODEFICIENCY, COMMON VARIABLE, 14617765C4540380OMIM136421729615332
HP:0004313HP:0004313Decreased antibody level in blood4LAT CL E G H27040617514Immunodeficiency 52617514C4479588OMIM11812518874602354
HP:0004313HP:0004313Decreased antibody level in blood4MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM11513936826609458
HP:0004313HP:0004313Decreased antibody level in blood4MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM1817324862601336
HP:0004313HP:0004313Decreased antibody level in blood4MS4A1 CL E G H9311572ORPHA12147315112210
HP:0004313HP:0004313Decreased antibody level in blood4MS4A1 CL E G H931613495Common variable immunodeficiency 5613495C3150740OMIM12147315112210
HP:0004313HP:0004313Decreased antibody level in blood4MSN CL E G H4478300988Immunodeficiency 50300988C4310812OMIM121347373309845
HP:0004313HP:0004313Decreased antibody level in blood4MTHFD1 CL E G H4522617780COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA617780C4540434OMIM114447432172460
HP:0004313HP:0004313Decreased antibody level in blood4MYSM1 CL E G H114803618116BONE MARROW FAILURE SYNDROME 4618116CN253834OMIM132629401612176
HP:0004313HP:0004313Decreased antibody level in blood4NFE2L2 CL E G H4780617744IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA617744C4540293OMIM18567782600492
HP:0004313HP:0004313Decreased antibody level in blood4NFKB1 CL E G H47901572ORPHA136977794164011
HP:0004313HP:0004313Decreased antibody level in blood4NFKB1 CL E G H4790616576Immunodeficiency, common variable, 12616576C4225277OMIM136977794164011
HP:0004313HP:0004313Decreased antibody level in blood4NFKB2 CL E G H47911572ORPHA1111657795164012
HP:0004313HP:0004313Decreased antibody level in blood4NFKB2 CL E G H4791293978ORPHA1111657795164012
HP:0004313HP:0004313Decreased antibody level in blood4NFKB2 CL E G H4791615577Common variable immunodeficiency 10615577C3809991OMIM1111657795164012
HP:0004313HP:0004313Decreased antibody level in blood4NHEJ1 CL E G H79840169079ORPHA1167525737611290
HP:0004313HP:0004313Decreased antibody level in blood4PIK3R1 CL E G H5295616005Immunodeficiency 36616005C4014934OMIM1291568979171833
HP:0004313HP:0004313Decreased antibody level in blood4PRKCD CL E G H55801572ORPHA161449399176977
HP:0004313HP:0004313Decreased antibody level in blood4RBM8A CL E G H9939274000Radial aplasia-thrombocytopenia syndrome274000C0175703OMIM1142059905605313
HP:0004313HP:0004313Decreased antibody level in blood4RNF113A CL E G H7737300953Trichothiodystrophy 5, nonphotosensitive300953C4225420OMIM1117412974300951
HP:0004313HP:0004313Decreased antibody level in blood4RTEL1 CL E G H51750615190Dyskeratosis congenita, autosomal recessive, 5615190C3554656OMIM15468415888608833
HP:0004313HP:0004313Decreased antibody level in blood4SH2D1A CL E G H40682442ORPHA113124010820300490
HP:0004313HP:0004313Decreased antibody level in blood4SLC46A1 CL E G H11323590045ORPHA12316630521611672
HP:0004313HP:0004313Decreased antibody level in blood4SPINK5 CL E G H11005634Leber congenital amaurosisC0339527ORPHA18938315464605010
HP:0004313HP:0004313Decreased antibody level in blood4STAT3 CL E G H6774615952Autoimmune disease, multisystem, infantile-onset, 1615952C4014795OMIM115529111364102582
HP:0004313HP:0004313Decreased antibody level in blood4STX1A CL E G H6804586Al Gazali Khidr Prem Chandran syndromeORPHA1515511433186590
HP:0004313HP:0004313Decreased antibody level in blood4TFRC CL E G H7037616740Immunodeficiency 46616740C4225219OMIM1311511763190010
HP:0004313HP:0004313Decreased antibody level in blood4TGFB1 CL E G H7040586Al Gazali Khidr Prem Chandran syndromeORPHA1354711766190180
HP:0004313HP:0004313Decreased antibody level in blood4TNFRSF13B CL E G H234951572ORPHA15022818153604907
HP:0004313HP:0004313Decreased antibody level in blood4TNFRSF13C CL E G H1156501572ORPHA138217755606269
HP:0004313HP:0004313Decreased antibody level in blood4TNFSF12 CL E G H87421572ORPHA116711927602695
HP:0004313HP:0004313Decreased antibody level in blood4TRNT1 CL E G H51095616084Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay616084C4015172OMIM12624817341612907
HP:0004313HP:0004313Decreased antibody level in blood4XIAP CL E G H3312442ORPHA199361592300079
HP:0004313HP:0004313Decreased antibody level in blood4XIAP CL E G H331300635Lymphoproliferative syndrome 2, X-linked300635C1845076OMIM199361592300079
HP:0004313HP:0004313Decreased antibody level in blood4ZBTB24 CL E G H98412268ORPHA11813421143614064
HP:0004313HP:0004313Decreased antibody level in blood4ZBTB24 CL E G H9841614069Immunodeficiency-centromeric instability-facial anomalies syndrome 2614069C3279748OMIM11813421143614064
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004313HP:0004313Decreased antibody level in blood0ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM0552161839607575
HP:0004313HP:0004313Decreased antibody level in blood0CARMIL2 CL E G H146206618131IMMUNODEFICIENCY 58618131CN253926OMIM085627089610859
HP:0004313HP:0004313Decreased antibody level in blood0COG6 CL E G H57511614576Congenital disorder of glycosylation type 2L614576C3553230OMIM01018918621606977
HP:0004313HP:0004313Decreased antibody level in blood0PTEN CL E G H5728158350Cowden syndrome 1158350CN072330OMIM065820199588601728
HP:0004313HP:0004313Decreased antibody level in blood0PTEN CL E G H5728605309Macrocephaly/autism syndrome605309C1854416OMIM065820199588601728
HP:0004313HP:0004313Decreased antibody level in blood0RIPK1 CL E G H8737618108IMMUNODEFICIENCY 57618108CN253831OMIM046310019603453
HP:0004313HP:0004313Decreased antibody level in blood0RMRP CL E G H6023175ORPHA012341110031157660
HP:0004313HP:0004313Decreased antibody level in blood0SAMD9L CL E G H2192852585ORPHA019721349611170
HP:0004313HP:0004313Decreased antibody level in blood0TNFRSF11A CL E G H8792612301Osteopetrosis autosomal recessive 7612301C2676766OMIM02621611908603499
HP:0004313HP:0004313Decreased antibody level in blood1ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM0552161839607575
HP:0004313HP:0004313Decreased antibody level in blood1CARMIL2 CL E G H146206618131IMMUNODEFICIENCY 58618131CN253926OMIM085627089610859
HP:0004313HP:0004313Decreased antibody level in blood1COG6 CL E G H57511614576Congenital disorder of glycosylation type 2L614576C3553230OMIM01018918621606977
HP:0004313HP:0004313Decreased antibody level in blood1PTEN CL E G H5728158350Cowden syndrome 1158350CN072330OMIM065820199588601728
HP:0004313HP:0004313Decreased antibody level in blood1PTEN CL E G H5728605309Macrocephaly/autism syndrome605309C1854416OMIM065820199588601728
HP:0004313HP:0004313Decreased antibody level in blood1RIPK1 CL E G H8737618108IMMUNODEFICIENCY 57618108CN253831OMIM046310019603453
HP:0004313HP:0004313Decreased antibody level in blood1RMRP CL E G H6023175ORPHA012341110031157660
HP:0004313HP:0004313Decreased antibody level in blood1SAMD9L CL E G H2192852585ORPHA019721349611170
HP:0004313HP:0004313Decreased antibody level in blood1TNFRSF11A CL E G H8792612301Osteopetrosis autosomal recessive 7612301C2676766OMIM02621611908603499
HP:0004313HP:0004313Decreased antibody level in blood2ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM0552161839607575
HP:0004313HP:0004313Decreased antibody level in blood2CARMIL2 CL E G H146206618131IMMUNODEFICIENCY 58618131CN253926OMIM085627089610859
HP:0004313HP:0004313Decreased antibody level in blood2COG6 CL E G H57511614576Congenital disorder of glycosylation type 2L614576C3553230OMIM01018918621606977
HP:0004313HP:0004313Decreased antibody level in blood2PTEN CL E G H5728158350Cowden syndrome 1158350CN072330OMIM065820199588601728
HP:0004313HP:0004313Decreased antibody level in blood2PTEN CL E G H5728605309Macrocephaly/autism syndrome605309C1854416OMIM065820199588601728
HP:0004313HP:0004313Decreased antibody level in blood2RIPK1 CL E G H8737618108IMMUNODEFICIENCY 57618108CN253831OMIM046310019603453
HP:0004313HP:0004313Decreased antibody level in blood2RMRP CL E G H6023175ORPHA012341110031157660
HP:0004313HP:0004313Decreased antibody level in blood2SAMD9L CL E G H2192852585ORPHA019721349611170
HP:0004313HP:0004313Decreased antibody level in blood2TNFRSF11A CL E G H8792612301Osteopetrosis autosomal recessive 7612301C2676766OMIM02621611908603499
HP:0004313HP:0004313Decreased antibody level in blood3ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM0552161839607575
HP:0004313HP:0004313Decreased antibody level in blood3CARMIL2 CL E G H146206618131IMMUNODEFICIENCY 58618131CN253926OMIM085627089610859
HP:0004313HP:0004313Decreased antibody level in blood3COG6 CL E G H57511614576Congenital disorder of glycosylation type 2L614576C3553230OMIM01018918621606977
HP:0004313HP:0004313Decreased antibody level in blood3PTEN CL E G H5728158350Cowden syndrome 1158350CN072330OMIM065820199588601728
HP:0004313HP:0004313Decreased antibody level in blood3PTEN CL E G H5728605309Macrocephaly/autism syndrome605309C1854416OMIM065820199588601728
HP:0004313HP:0004313Decreased antibody level in blood3RIPK1 CL E G H8737618108IMMUNODEFICIENCY 57618108CN253831OMIM046310019603453
HP:0004313HP:0004313Decreased antibody level in blood3RMRP CL E G H6023175ORPHA012341110031157660
HP:0004313HP:0004313Decreased antibody level in blood3SAMD9L CL E G H2192852585ORPHA019721349611170
HP:0004313HP:0004313Decreased antibody level in blood3TNFRSF11A CL E G H8792612301Osteopetrosis autosomal recessive 7612301C2676766OMIM02621611908603499
HP:0004313HP:0004313Decreased antibody level in blood4ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM0552161839607575
HP:0004313HP:0004313Decreased antibody level in blood4CARMIL2 CL E G H146206618131IMMUNODEFICIENCY 58618131CN253926OMIM085627089610859
HP:0004313HP:0004313Decreased antibody level in blood4COG6 CL E G H57511614576Congenital disorder of glycosylation type 2L614576C3553230OMIM01018918621606977
HP:0004313HP:0004313Decreased antibody level in blood4PTEN CL E G H5728158350Cowden syndrome 1158350CN072330OMIM065820199588601728
HP:0004313HP:0004313Decreased antibody level in blood4PTEN CL E G H5728605309Macrocephaly/autism syndrome605309C1854416OMIM065820199588601728
HP:0004313HP:0004313Decreased antibody level in blood4RIPK1 CL E G H8737618108IMMUNODEFICIENCY 57618108CN253831OMIM046310019603453
HP:0004313HP:0004313Decreased antibody level in blood4RMRP CL E G H6023175ORPHA012341110031157660
HP:0004313HP:0004313Decreased antibody level in blood4SAMD9L CL E G H2192852585ORPHA019721349611170
HP:0004313HP:0004313Decreased antibody level in blood4TNFRSF11A CL E G H8792612301Osteopetrosis autosomal recessive 7612301C2676766OMIM02621611908603499


Genes (119) :ADA ADA2 ADAMTS3 AGPAT2 AICDA AK2 ALG12 ATM ATP6AP1 B2M BCL10 BLM BLNK BSCL2 BTK CARD11 CARMIL2 CAV1 CAVIN1 CCBE1 CCND1 CD19 CD27 CD40 CD40LG CD70 CD79A CD79B CD81 CDCA7 CFTR CIITA CLCA4 CNBP COG6 CR2 CSNK2A1 CTLA4 CTPS1 CXCR4 DCLRE1C DCTN4 DNMT3B EPG5 ERCC2 EXTL3 FAT4 FLNA FOS HELLS HYOU1 ICOS IGHM IGLL1 IKBKB IKBKG IKZF1 IL21 IL2RA IL2RG IRF2BP2 ITK JAK3 LAMTOR2 LAT LRBA LRRC8A MAN2B1 MOGS MS4A1 MSN MTHFD1 MTOR MYSM1 NBN NFE2L2 NFKB1 NFKB2 NHEJ1 PIK3CD PIK3R1 PLCG2 PMM2 PPARG PRKCD PTEN RAG1 RAG2 RBM8A RFX5 RFXANK RFXAP RIPK1 RMRP RNF113A RNF168 RTEL1 SAMD9L SH2D1A SLC46A1 SON SP110 SPINK5 STAT3 STX1A TCF3 TCN2 TFRC TGFB1 TNFRSF11A TNFRSF13B TNFRSF13C TNFSF12 TRNT1 UNG WAS XIAP ZAP70 ZBTB24

Diseases (123) :615688 2136 33355 607143 100 300972 616098 615206 618131 29073 1572 613493 615122 618261 613496 2268 616910 586 614576 616100 193670 617425 99811 616911 233600 616873 615767 617765 617514 248500 606056 613495 300988 617780 618116 617744 616576 293978 615577 169079 616005 158350 605309 274000 618108 175 300953 615190 2585 2442 90045 634 615952 616740 612301 616084 300635 614069 102700 528 605258 208900 241600 125 210900 33110 613502 47 300755 307200 616452 613327 240500 606843 308230 613501 612692 209920 602668 614699 617062 602450 242860 242840 601675 607594 601495 613500 615592 300291 300584 606367 312863 300400 613011 600802 610798 614700 613506 616638 251260 615214 614878 212065 233650 601457 420741 611943 308240 500150 79124 235550 616941 859 275350 609529 613494 608106 301000 269840 615513 615897 1493
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.