Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | ACTN4 CL E G H | 81 | 166 | OMIM:603278 | Focal segmental glomerulosclerosis 1 | | | | 27 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | ACTN4 CL E G H | 81 | 166 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 27 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | AHCY CL E G H | 191 | 343 | ORPHA:88618 | S-adenosylhomocysteine hydrolase deficiency | | | | 31 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | ALB CL E G H | 213 | 399 | OMIM:616000 | Analbuminemia | | | | 104 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | ALB CL E G H | 213 | 399 | ORPHA:86816 | Congenital analbuminemia | | | | 104 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | ALG1 CL E G H | 56052 | 18294 | ORPHA:79327 | ALG1-CDG | | | | 58 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | | | | 68 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | ALG6 CL E G H | 29929 | 23157 | ORPHA:79320 | ALG6-CDG | | | | 66 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | ALG8 CL E G H | 79053 | 23161 | OMIM:608104 | Congenital disorder of glycosylation, type Ih | | | | 46 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | ANKFY1 CL E G H | 51479 | 20763 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | ANLN CL E G H | 54443 | 14082 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 6 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | AP1B1 CL E G H | 162 | 554 | OMIM:242150 | Ichthyosiform erythroderma, corneal involvement, and deafness | | | | | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | APOL1 CL E G H | 8542 | 618 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 3 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | APTX CL E G H | 54840 | 15984 | OMIM:208920 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | | | | 61 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | ARHGAP24 CL E G H | 83478 | 25361 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 4 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | ARHGDIA CL E G H | 396 | 678 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 3 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | ARHGDIA CL E G H | 396 | 678 | OMIM:615244 | Nephrotic syndrome, type 8 | | | | 3 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | B2M CL E G H | 567 | 914 | OMIM:241600 | Immunodeficiency 43 | | | | 8 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:79076 | Juvenile polyposis of infancy | | | | 385 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | BMPR1A CL E G H | 657 | 1076 | OMIM:174900 | Juvenile polyposis syndrome | | | | 385 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | | | | 147 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | CD2AP CL E G H | 23607 | 14258 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 105 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | CD55 CL E G H | 1604 | 2665 | OMIM:226300 | Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy | | | | 9 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | COL4A3 CL E G H | 1285 | 2204 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 161 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:89842 | Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form | | | | 263 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:255249 | Leigh syndrome with nephrotic syndrome | | | | 54 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | COQ8B CL E G H | 79934 | 19041 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 35 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | COQ8B CL E G H | 79934 | 19041 | OMIM:615573 | Nephrotic syndrome, type 9 | | | | 35 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | CRB2 CL E G H | 286204 | 18688 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 12 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | DAAM2 CL E G H | 23500 | 18143 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | DGAT1 CL E G H | 8694 | 2843 | OMIM:615863 | Diarrhea 7, protein-losing Enteropathy type | | | | 9 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | DGUOK CL E G H | 1716 | 2858 | OMIM:251880 | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | | | | 57 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | | | | 65 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | EMP2 CL E G H | 2013 | 3334 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 4 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | ERCC4 CL E G H | 2072 | 3436 | OMIM:610965 | XFE progeroid syndrome | | | | 158 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | FARSA CL E G H | 2193 | 3592 | OMIM:619013 | RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2 | | | | | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | FARSB CL E G H | 10056 | 17800 | OMIM:613658 | Rajab interstitial lung disease with brain calcifications | | | | | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | FN1 CL E G H | 2335 | 3778 | ORPHA:84090 | Fibronectin glomerulopathy | | | | 9 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | | | | 32 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | GAPVD1 CL E G H | 26130 | 23375 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | | | | 2 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | IFNGR1 CL E G H | 3459 | 5439 | OMIM:209950 | Immunodeficiency 27A, mycobacteriosis, AR | | | | 60 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | IL12A CL E G H | 3592 | 5969 | ORPHA:186 | Primary biliary cholangitis | | | | | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | IL12RB1 CL E G H | 3594 | 5971 | ORPHA:186 | Primary biliary cholangitis | | | | 46 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | INF2 CL E G H | 64423 | 23791 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 135 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | IRF5 CL E G H | 3663 | 6120 | ORPHA:186 | Primary biliary cholangitis | | | | 4 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | IRF8 CL E G H | 3394 | 5358 | OMIM:226990 | Immunodeficiency 32B | | | | 5 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | ITGA3 CL E G H | 3675 | 6139 | OMIM:614748 | Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital | | | | 6 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | | | | 110 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | | | | 173 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | MAGI2 CL E G H | 9863 | 18957 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 59 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | MAGI2 CL E G H | 9863 | 18957 | OMIM:617609 | Nephrotic syndrome, type 15 | | | | 59 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | MICOS13 CL E G H | 125988 | 33702 | OMIM:618329 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37 | | | | | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | MMEL1 CL E G H | 79258 | 14668 | ORPHA:186 | Primary biliary cholangitis | | | | | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | MPI CL E G H | 4351 | 7216 | OMIM:602579 | Congenital disorder of glycosylation, type Ib | | | | 51 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | MPI CL E G H | 4351 | 7216 | ORPHA:79319 | MPI-CDG | | | | 51 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | | | | 1 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | | | | 81 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | MYO1E CL E G H | 4643 | 7599 | OMIM:614131 | Focal segmental glomerulosclerosis 6 | | | | 3 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | MYO1E CL E G H | 4643 | 7599 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 3 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | MYO5B CL E G H | 4645 | 7603 | OMIM:619868 | | | | | 192 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | NLRC4 CL E G H | 58484 | 16412 | OMIM:616050 | AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC | | | | 30 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | NPHS1 CL E G H | 4868 | 7908 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 241 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | NPHS1 CL E G H | 4868 | 7908 | OMIM:256300 | Nephrotic syndrome, type 1 | | | | 241 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | NPHS2 CL E G H | 7827 | 13394 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 69 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | NPHS2 CL E G H | 7827 | 13394 | OMIM:600995 | Nephrotic syndrome, type 2 | | | | 69 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | NUP107 CL E G H | 57122 | 29914 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 5 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | NUP107 CL E G H | 57122 | 29914 | OMIM:616730 | Nephrotic syndrome, type 11 | | | | 5 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | NUP133 CL E G H | 55746 | 18016 | OMIM:618349 | Galloway-Mowat syndrome 8 | | | | 1 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | NUP133 CL E G H | 55746 | 18016 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 1 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | NUP160 CL E G H | 23279 | 18017 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | NUP205 CL E G H | 23165 | 18658 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 1 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | NUP37 CL E G H | 79023 | 29929 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | NUP85 CL E G H | 79902 | 8734 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | NUP93 CL E G H | 9688 | 28958 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 5 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | OSGEP CL E G H | 55644 | 18028 | OMIM:617729 | Galloway-Mowat syndrome 3 | | | | | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | PAX2 CL E G H | 5076 | 8616 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 39 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | PDSS2 CL E G H | 57107 | 23041 | ORPHA:255249 | Leigh syndrome with nephrotic syndrome | | | | 54 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | PET100 CL E G H | 100131801 | 40038 | OMIM:619055 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12 | | | | 6 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | PIK3R5 CL E G H | 23533 | 30035 | ORPHA:64753 | Spinocerebellar ataxia with axonal neuropathy type 2 | | | | 11 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | PLCE1 CL E G H | 51196 | 17175 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 118 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | PLCE1 CL E G H | 51196 | 17175 | OMIM:610725 | Nephrotic syndrome, type 3 | | | | 118 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | PLVAP CL E G H | 83483 | 13635 | OMIM:618183 | Diarrhea 10, protein-losing Enteropathy type | | | | | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | | | | 150 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | | | | 150 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | POU2AF1 CL E G H | 5450 | 9211 | ORPHA:186 | Primary biliary cholangitis | | | | | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | PRF1 CL E G H | 5551 | 9360 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 58 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | PRF1 CL E G H | 5551 | 9360 | OMIM:603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | | | | 58 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:79076 | Juvenile polyposis of infancy | | | | 948 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | PTPRO CL E G H | 5800 | 9678 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 2 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | PTPRO CL E G H | 5800 | 9678 | OMIM:614196 | Nephrotic syndrome, type 6 | | | | 2 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | SAR1B CL E G H | 51128 | 10535 | OMIM:246700 | Chylomicron retention disease | | | | 8 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | | | | | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | SETX CL E G H | 23064 | 445 | ORPHA:64753 | Spinocerebellar ataxia with axonal neuropathy type 2 | | | | 162 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | SGPL1 CL E G H | 8879 | 10817 | OMIM:617575 | Nephrotic syndrome, type 14 | | | | 8 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | SH2D1A CL E G H | 4068 | 10820 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 37 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | SKIC3 CL E G H | 9652 | 23639 | OMIM:222470 | Trichohepatoenteric syndrome 1 | | | | | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247585 | Citrullinemia type II | | | | 82 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247598 | Neonatal intrahepatic cholestasis due to citrin deficiency | | | | 82 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | SLCO2A1 CL E G H | 6578 | 10955 | OMIM:614441 | Hypertrophic osteoarthropathy, primary, autosomal recessive 2 | | | | 13 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | SMAD4 CL E G H | 4089 | 6770 | OMIM:174900 | Juvenile polyposis syndrome | | | | 504 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | SPIB CL E G H | 6689 | 11242 | ORPHA:186 | Primary biliary cholangitis | | | | | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | STX11 CL E G H | 8676 | 11429 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 85 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | STXBP2 CL E G H | 6813 | 11445 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 70 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | TBC1D8B CL E G H | 54885 | 24715 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 1 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | | | | 241 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | TDP1 CL E G H | 55775 | 18884 | ORPHA:94124 | Spinocerebellar ataxia with axonal neuropathy type 1 | | | | 52 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | TDP1 CL E G H | 55775 | 18884 | OMIM:607250 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | | | | 52 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | TFAM CL E G H | 7019 | 11741 | OMIM:617156 | Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | | | | 1 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | TKFC CL E G H | 26007 | 24552 | OMIM:618805 | TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD | | | | | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | TNFSF15 CL E G H | 9966 | 11931 | ORPHA:186 | Primary biliary cholangitis | | | | | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | TNPO3 CL E G H | 23534 | 17103 | ORPHA:186 | Primary biliary cholangitis | | | | 71 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | TRMU CL E G H | 55687 | 25481 | OMIM:613070 | Liver failure, infantile, transient | | | | 101 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | TRPC6 CL E G H | 7225 | 12338 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 107 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | UNC13D CL E G H | 201294 | 23147 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 116 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | VPS33A CL E G H | 65082 | 18179 | ORPHA:505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | | | | 1 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | VPS33A CL E G H | 65082 | 18179 | OMIM:617303 | Mucopolysaccharidosis-Plus syndrome | | | | 1 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | WDR4 CL E G H | 10785 | 12756 | OMIM:618347 | Galloway-Mowat syndrome 6 | | | | | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | WDR73 CL E G H | 84942 | 25928 | OMIM:251300 | Galloway-mowat syndrome 1 | | | | 14 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 177 | | |
HP:0012116 | HP:0012116 | Abnormal circulating albumin concentration | 0 | XIAP CL E G H | 331 | 592 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 81 | | |
HP:0012116 | HP:0012117 | Hyperalbuminemia | 1 | CL E G H | | | | | | | | | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | ACTN4 CL E G H | 81 | 166 | OMIM:603278 | Focal segmental glomerulosclerosis 1 | . | | | 27 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | ACTN4 CL E G H | 81 | 166 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 27 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | AHCY CL E G H | 191 | 343 | ORPHA:88618 | S-adenosylhomocysteine hydrolase deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | ALB CL E G H | 213 | 399 | OMIM:616000 | Analbuminemia | | | | 104 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | ALB CL E G H | 213 | 399 | ORPHA:86816 | Congenital analbuminemia | HP:0040281 - Very frequent | | | 104 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | ALG1 CL E G H | 56052 | 18294 | ORPHA:79327 | ALG1-CDG | HP:0040282 - Frequent | | | 58 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | HP:0040283 - Occasional | | | 68 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | ALG6 CL E G H | 29929 | 23157 | ORPHA:79320 | ALG6-CDG | HP:0040283 - Occasional | | | 66 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | ALG8 CL E G H | 79053 | 23161 | OMIM:608104 | Congenital disorder of glycosylation, type Ih | . | | | 46 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | ANKFY1 CL E G H | 51479 | 20763 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | ANLN CL E G H | 54443 | 14082 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | AP1B1 CL E G H | 162 | 554 | OMIM:242150 | Ichthyosiform erythroderma, corneal involvement, and deafness | | | | | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | APOL1 CL E G H | 8542 | 618 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | APTX CL E G H | 54840 | 15984 | OMIM:208920 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | | | | 61 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | ARHGAP24 CL E G H | 83478 | 25361 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | ARHGDIA CL E G H | 396 | 678 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | ARHGDIA CL E G H | 396 | 678 | OMIM:615244 | Nephrotic syndrome, type 8 | . | | | 3 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | B2M CL E G H | 567 | 914 | OMIM:241600 | Immunodeficiency 43 | . | | | 8 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | BMPR1A CL E G H | 657 | 1076 | ORPHA:79076 | Juvenile polyposis of infancy | HP:0040282 - Frequent | | | 385 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | BMPR1A CL E G H | 657 | 1076 | OMIM:174900 | Juvenile polyposis syndrome | . | | | 385 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | . | | | 147 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | CD2AP CL E G H | 23607 | 14258 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 105 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | CD55 CL E G H | 1604 | 2665 | OMIM:226300 | Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy | . | | | 9 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | COL4A3 CL E G H | 1285 | 2204 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 161 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:89842 | Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form | HP:0040282 - Frequent | | | 263 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | COQ2 CL E G H | 27235 | 25223 | ORPHA:255249 | Leigh syndrome with nephrotic syndrome | HP:0040281 - Very frequent | | | 54 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | COQ8B CL E G H | 79934 | 19041 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | COQ8B CL E G H | 79934 | 19041 | OMIM:615573 | Nephrotic syndrome, type 9 | . | | | 35 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | CRB2 CL E G H | 286204 | 18688 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | DAAM2 CL E G H | 23500 | 18143 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | DGAT1 CL E G H | 8694 | 2843 | OMIM:615863 | Diarrhea 7, protein-losing Enteropathy type | . | | | 9 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | DGUOK CL E G H | 1716 | 2858 | OMIM:251880 | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | . | | | 57 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | EMP2 CL E G H | 2013 | 3334 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | ERCC4 CL E G H | 2072 | 3436 | OMIM:610965 | XFE progeroid syndrome | | | | 158 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | FARSA CL E G H | 2193 | 3592 | OMIM:619013 | RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2 | | | | | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | FARSB CL E G H | 10056 | 17800 | OMIM:613658 | Rajab interstitial lung disease with brain calcifications | | | | | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | FN1 CL E G H | 2335 | 3778 | ORPHA:84090 | Fibronectin glomerulopathy | HP:0040281 - Very frequent | | | 9 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | GAPVD1 CL E G H | 26130 | 23375 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | GPR35 CL E G H | 2859 | 4492 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 2 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | IFNGR1 CL E G H | 3459 | 5439 | OMIM:209950 | Immunodeficiency 27A, mycobacteriosis, AR | | | | 60 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | IL12A CL E G H | 3592 | 5969 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | IL12RB1 CL E G H | 3594 | 5971 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | 46 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | INF2 CL E G H | 64423 | 23791 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 135 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | IRF5 CL E G H | 3663 | 6120 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | 4 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | IRF8 CL E G H | 3394 | 5358 | OMIM:226990 | Immunodeficiency 32B | | | | 5 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | ITGA3 CL E G H | 3675 | 6139 | OMIM:614748 | Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital | . | | | 6 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | HP:0040283 - Occasional | | | 110 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | HP:0040283 - Occasional | | | 173 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | MAGI2 CL E G H | 9863 | 18957 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 59 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | MAGI2 CL E G H | 9863 | 18957 | OMIM:617609 | Nephrotic syndrome, type 15 | . | | | 59 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | MICOS13 CL E G H | 125988 | 33702 | OMIM:618329 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37 | | | | | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | MMEL1 CL E G H | 79258 | 14668 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | MPI CL E G H | 4351 | 7216 | OMIM:602579 | Congenital disorder of glycosylation, type Ib | . | | | 51 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | MPI CL E G H | 4351 | 7216 | ORPHA:79319 | MPI-CDG | HP:0040281 - Very frequent | | | 51 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | MST1 CL E G H | 4485 | 7380 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 1 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | HP:0040282 - Frequent | | | 81 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | MYO1E CL E G H | 4643 | 7599 | OMIM:614131 | Focal segmental glomerulosclerosis 6 | . | | | 3 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | MYO1E CL E G H | 4643 | 7599 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | MYO5B CL E G H | 4645 | 7603 | OMIM:619868 | | | | | 192 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | NLRC4 CL E G H | 58484 | 16412 | OMIM:616050 | AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC | | | | 30 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | NPHS1 CL E G H | 4868 | 7908 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 241 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | NPHS1 CL E G H | 4868 | 7908 | OMIM:256300 | Nephrotic syndrome, type 1 | . | | | 241 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | NPHS2 CL E G H | 7827 | 13394 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 69 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | NPHS2 CL E G H | 7827 | 13394 | OMIM:600995 | Nephrotic syndrome, type 2 | . | | | 69 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | NUP107 CL E G H | 57122 | 29914 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | NUP107 CL E G H | 57122 | 29914 | OMIM:616730 | Nephrotic syndrome, type 11 | | | | 5 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | NUP133 CL E G H | 55746 | 18016 | OMIM:618349 | Galloway-Mowat syndrome 8 | . | | | 1 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | NUP133 CL E G H | 55746 | 18016 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | NUP160 CL E G H | 23279 | 18017 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | NUP205 CL E G H | 23165 | 18658 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | NUP37 CL E G H | 79023 | 29929 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | NUP85 CL E G H | 79902 | 8734 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | NUP93 CL E G H | 9688 | 28958 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | OSGEP CL E G H | 55644 | 18028 | OMIM:617729 | Galloway-Mowat syndrome 3 | . | | | | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | PAX2 CL E G H | 5076 | 8616 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 39 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | PDSS2 CL E G H | 57107 | 23041 | ORPHA:255249 | Leigh syndrome with nephrotic syndrome | HP:0040281 - Very frequent | | | 54 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | PET100 CL E G H | 100131801 | 40038 | OMIM:619055 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12 | | | | 6 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | PIK3R5 CL E G H | 23533 | 30035 | ORPHA:64753 | Spinocerebellar ataxia with axonal neuropathy type 2 | HP:0040283 - Occasional | | | 11 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | PLCE1 CL E G H | 51196 | 17175 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 118 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | PLCE1 CL E G H | 51196 | 17175 | OMIM:610725 | Nephrotic syndrome, type 3 | . | | | 118 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | PLVAP CL E G H | 83483 | 13635 | OMIM:618183 | Diarrhea 10, protein-losing Enteropathy type | . | | | | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | . | | | 150 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | HP:0040283 - Occasional | | | 150 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | POU2AF1 CL E G H | 5450 | 9211 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | PRF1 CL E G H | 5551 | 9360 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040281 - Very frequent | | | 58 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | PRF1 CL E G H | 5551 | 9360 | OMIM:603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | . | | | 58 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:79076 | Juvenile polyposis of infancy | HP:0040282 - Frequent | | | 948 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | PTPRO CL E G H | 5800 | 9678 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | PTPRO CL E G H | 5800 | 9678 | OMIM:614196 | Nephrotic syndrome, type 6 | . | | | 2 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | SAR1B CL E G H | 51128 | 10535 | OMIM:246700 | Chylomicron retention disease | . | | | 8 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | SEMA4D CL E G H | 10507 | 10732 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | SETX CL E G H | 23064 | 445 | ORPHA:64753 | Spinocerebellar ataxia with axonal neuropathy type 2 | HP:0040283 - Occasional | | | 162 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | SGPL1 CL E G H | 8879 | 10817 | OMIM:617575 | Nephrotic syndrome, type 14 | . | | | 8 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | SH2D1A CL E G H | 4068 | 10820 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 37 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | SKIC3 CL E G H | 9652 | 23639 | OMIM:222470 | Trichohepatoenteric syndrome 1 | . | | | | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247585 | Citrullinemia type II | HP:0040282 - Frequent | | | 82 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247598 | Neonatal intrahepatic cholestasis due to citrin deficiency | HP:0040281 - Very frequent | | | 82 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | SLCO2A1 CL E G H | 6578 | 10955 | OMIM:614441 | Hypertrophic osteoarthropathy, primary, autosomal recessive 2 | | | | 13 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | SMAD4 CL E G H | 4089 | 6770 | OMIM:174900 | Juvenile polyposis syndrome | . | | | 504 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | SPIB CL E G H | 6689 | 11242 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | STX11 CL E G H | 8676 | 11429 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040281 - Very frequent | | | 85 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | STXBP2 CL E G H | 6813 | 11445 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040281 - Very frequent | | | 70 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | TBC1D8B CL E G H | 54885 | 24715 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | TCF4 CL E G H | 6925 | 11634 | ORPHA:171 | Primary sclerosing cholangitis | HP:0040283 - Occasional | | | 241 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | TDP1 CL E G H | 55775 | 18884 | ORPHA:94124 | Spinocerebellar ataxia with axonal neuropathy type 1 | HP:0040282 - Frequent | | | 52 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | TDP1 CL E G H | 55775 | 18884 | OMIM:607250 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | . | | | 52 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | TFAM CL E G H | 7019 | 11741 | OMIM:617156 | Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | . | | | 1 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | TKFC CL E G H | 26007 | 24552 | OMIM:618805 | TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD | | | | | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | TNFSF15 CL E G H | 9966 | 11931 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | TNPO3 CL E G H | 23534 | 17103 | ORPHA:186 | Primary biliary cholangitis | HP:0040283 - Occasional | | | 71 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | TRMU CL E G H | 55687 | 25481 | OMIM:613070 | Liver failure, infantile, transient | | | | 101 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | TRPC6 CL E G H | 7225 | 12338 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 107 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | UNC13D CL E G H | 201294 | 23147 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040281 - Very frequent | | | 116 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | VPS33A CL E G H | 65082 | 18179 | ORPHA:505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | HP:0040282 - Frequent | | | 1 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | VPS33A CL E G H | 65082 | 18179 | OMIM:617303 | Mucopolysaccharidosis-Plus syndrome | | | | 1 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | WDR4 CL E G H | 10785 | 12756 | OMIM:618347 | Galloway-Mowat syndrome 6 | HP:0040284 - Very rare | | | | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | WDR73 CL E G H | 84942 | 25928 | OMIM:251300 | Galloway-mowat syndrome 1 | . | | | 14 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | WT1 CL E G H | 7490 | 12796 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040283 - Occasional | | | 177 | | |
HP:0012116 | HP:0003073 | Hypoalbuminemia | 1 | XIAP CL E G H | 331 | 592 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 81 | | |