 Hereditary diseases |
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HIV resistance |
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 CCR5 |
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Hereditary bone disease |
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Hereditary Rickets |
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Autosomal recessive hypophosphatemic rickets type 1 |
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DMP1 |
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Autosomal recessive hypophosphatemic rickets type 2 |
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ENPP1 |
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Dent disease |
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CLCN5 |
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OCRL1 |
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Lowe disease |
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OCRL1 |
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Vitamin D hydroxylation-deficient rickets type 1A |
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CYP27B1 |
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Vitamin D hydroxylation-deficient rickets type 1B |
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CYP2R1 |
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Vitamin D-dependent rickets, type 2A |
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VDR |
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Vitamin D-dependent rickets, type 2B |
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RXRA |
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autosomal dominant hypophosphatemic rickets |
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FGF23 |
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x-linked dominant hypophosphatemic rickets |
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PHEX |
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Inherited human diseases of heterotopic bone formation |
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Fibrodysplasia ossificans progressiva |
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ACVR1 |
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Progressive osseous heteroplasia |
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GNAS |
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Osteoporosis/renal Osteodystrophy |
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CASR |
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RXRA |
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VDR |
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Pseudohypoparathyroidism |
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Albright hereditary osteodystrophy |
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GNAS |
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Pseudohypoparathyroidism type IB |
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GNAS |
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STX16 |
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Schimke Immunoosseous dysplasia |
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SMARCAL1 |
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Hereditary broncho-pulmonary disease |
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Bronchiectasis with or without elevated sweat chloride |
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Bronchiectasis with or without elevated sweat chloride 1 |
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SCNN1B |
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Bronchiectasis with or without elevated sweat chloride 2 |
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SCNN1A |
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Bronchiectasis with or without elevated sweat chloride 3 |
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SCNN1G |
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Cystinosis |
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CTNS |
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Fabry disease |
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GLA |
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Hereditary pulmonary embolism |
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Thromboembolic diseases |
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F2 |
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F5 |
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HABP2 |
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MTHFR |
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PROC |
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PROS1 |
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SERPINC1 |
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THBD |
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VKORC1 |
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Hereditary endocrinological diseases |
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Growth hormone deficiency |
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GH1 |
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Isolated growth hormone deficiency type 1A |
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GH1 |
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Isolated growth hormone deficiency type 1B |
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GH1 |
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GHRHR |
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Isolated growth hormone deficiency type 2 |
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GH1 |
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Isolated growth hormone deficiency type 3 |
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BTK |
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Kowarski syndrome |
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GH1 |
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Hyperparathyroidism |
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CASR |
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Hypoparathyroidism |
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CASR |
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GCM2 |
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PTH |
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Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome |
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GATA3 |
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Pseudohypoparathyroidism |
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Albright hereditary osteodystrophy |
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GNAS |
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Pseudohypoparathyroidism type IB |
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GNAS |
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STX16 |
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Kidney disease appearing as endocrinological disorders |
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Liddle syndrome |
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NEDD4 |
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NEDD4L |
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NR3C2 |
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SCNN1B |
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SCNN1G |
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Nephrogenic diabetes insipidus |
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AQP2 |
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AVPR2 |
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Pseudohypoaldosteronism |
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Pseudohypoaldosteronism type 2 |
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WNK1 |
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WNK4 |
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Pseudohypoaldosteronism type1 |
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NR3C2 |
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SCNN1A |
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SCNN1B |
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SCNN1G |
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Pseudohypoparathyroidism |
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Albright hereditary osteodystrophy |
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GNAS |
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Pseudohypoparathyroidism type IB |
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GNAS |
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STX16 |
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Liddle syndrome |
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NEDD4 |
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NEDD4L |
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NR3C2 |
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SCNN1B |
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SCNN1G |
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Pseudohypoaldosteronism |
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Pseudohypoaldosteronism type 2 |
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WNK1 |
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WNK4 |
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Pseudohypoaldosteronism type1 |
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NR3C2 |
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SCNN1A |
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SCNN1B |
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SCNN1G |
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hereditary diabetes insipidus |
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Central diabetes insipidus |
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AVP |
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Nephrogenic diabetes insipidus |
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AQP2 |
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AVPR2 |
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Hereditary kidney diseases |
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Congenital abnormalities of the kidney and urinary tract |
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Branchiootorenal dysplasia |
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Branchiootorenal dysplasia 1 |
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EYA1 |
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Branchiootorenal dysplasia 2 |
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SIX5 |
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Denys-Drash syndrome |
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WT1 |
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Frasier syndrome |
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WT1 |
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Lowe disease |
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OCRL1 |
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MODY5 diabetes |
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HNF1B |
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Renal cysts and diabetes (RCAD) |
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HNF1B |
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WAGR syndrome |
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PAX6 |
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WT1 |
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Cystic kidney disease |
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Autosomal dominant polycystic kidney disease |
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PKD1 |
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PKD2 |
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Autosomal recessive polycystic kidney and hepatic disease 1 |
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PKHD1 |
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Branchiootorenal dysplasia |
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Branchiootorenal dysplasia 1 |
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EYA1 |
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Branchiootorenal dysplasia 2 |
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SIX5 |
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MODY5 diabetes |
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HNF1B |
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Medullary cystic disease complex |
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Medullary cystic kidney disease 2 |
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UMOD |
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Nephronophthisis |
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Nephronophthisis 1 |
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NPHP1 |
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Nephronophthisis 2 |
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INVS |
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Nephronophthisis 3 |
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NPHP3 |
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Nephronophthisis 4 |
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NPHP4 |
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Nephronophthisis 6 |
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CEP290 |
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Renal cysts and diabetes (RCAD) |
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HNF1B |
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Disorders of tubular solute transport |
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Aminoaciduria |
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Cystinosis |
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CTNS |
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Cystinuria |
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SLC3A1 |
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SLC7A9 |
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Fanconi-Bickel syndrome |
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SLC2A2 |
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Lysinuric protein intolerance |
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SLC7A7 |
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Hereditary Salt-wasting tubulopathies |
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Bartter syndrome |
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Antenatal Bartter syndrome type 1 |
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SLC12A1 |
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Antenatal Bartter syndrome type 2 |
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KCNJ1 |
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Classic Bartter syndrome |
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CLCNKB |
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Infantile Bartter syndrome with deafness type 4 |
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BSND |
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CLCNKA |
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CLCNKB |
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EAST syndrome |
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KCNJ10 |
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Gitelman syndrome |
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SLC12A3 |
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Hypomagnesemia |
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EGFR |
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TRPM7 |
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Gitelman syndrome |
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SLC12A3 |
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Hypomagnesemia with hypercalciuria and nephrocalcinosis |
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CLDN16 |
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Hypomagnesemia with hypercalciuria and nephrocalcinosis with ocular involvement |
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CLDN19 |
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Hypomagnesemia with normocalciuria |
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EGF |
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Hypomagnesemia with secondary hypocalcemia |
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TRPM6 |
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Isolated dominant hypomagnesemia |
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FXYD2 |
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Hyperphosphaturia |
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Autosomal recessive hypophosphatemic rickets type 1 |
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DMP1 |
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Autosomal recessive hypophosphatemic rickets type 2 |
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ENPP1 |
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Dent disease |
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CLCN5 |
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OCRL1 |
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Lowe disease |
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OCRL1 |
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autosomal dominant hypophosphatemic rickets |
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FGF23 |
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x-linked dominant hypophosphatemic rickets |
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PHEX |
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Liddle syndrome |
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NEDD4 |
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NEDD4L |
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NR3C2 |
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SCNN1B |
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SCNN1G |
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Lowe disease |
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OCRL1 |
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Monosacchariduria |
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Fanconi-Bickel syndrome |
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SLC2A2 |
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Glucose-Galactose Malabsorption |
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SLC5A1 |
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Renal Glucosuria |
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SLC5A2 |
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Nephrogenic diabetes insipidus |
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AQP2 |
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AVPR2 |
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Pseudohypoaldosteronism |
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Pseudohypoaldosteronism type 2 |
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WNK1 |
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WNK4 |
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Pseudohypoaldosteronism type1 |
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NR3C2 |
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SCNN1A |
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SCNN1B |
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SCNN1G |
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Renal Hypouricemia |
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SLC22A12 |
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Renal tubular acidosis |
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ATP6V0A4 |
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ATP6V1B1 |
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CA2 |
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SLC4A1 |
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SLC4A4 |
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Hereditary glomerular disease |
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Glomerulonephritis |
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Membranoproliferative glomerulonephritis |
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C1QB |
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CFH |
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CFHR5 |
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MTHFR |
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PLA2R1 |
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Mesangioproliferative glomerulonephritis |
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CFHR5 |
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Glomerulosclerosis |
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NPHS1 |
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Frasier syndrome |
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WT1 |
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Glomerulosclerosis 1 |
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ACTN4 |
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Glomerulosclerosis 2 |
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TRPC6 |
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Glomerulosclerosis 3 |
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CD2AP |
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Glomerulosclerosis 4 |
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MYH9 |
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Glomerulosclerosis 5 |
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INF2 |
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Nephritic syndrome |
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Alport Syndrome |
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COL4A1 |
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COL4A2 |
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COL4A3 |
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COL4A4 |
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COL4A5 |
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MYH9 related disorders |
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MYH9 |
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Nail-patella syndrome |
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LMX1B |
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Nephrotic syndrome |
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Congenital nephrotic syndrome of the Finnish type |
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NPHS1 |
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Congenital nephrotic syndrome, type 3 |
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PLCE1 |
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Donnai-Barrow syndrome |
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LRP2 |
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Early-onset nephrotic syndrome with diffuse mesangial sclerosis |
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WT1 |
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Pierson syndrome |
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LAMB2 |
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Schimke Immunoosseous dysplasia |
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SMARCAL1 |
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Steroid-resistant nephrotic syndrome |
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NPHS2 |
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Hereditary renal tumors |
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Hereditary leiomyomatosis and renal cell cancer |
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FH |
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Wilms tumor |
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Aniridia-Wilms-tumor syndrome |
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PAX6 |
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WT1 |
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Denys-Drash syndrome |
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WT1 |
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WAGR syndrome |
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PAX6 |
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WT1 |
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Interstitial kidney disease |
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Alström syndrome |
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ALMS1 |
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Bardet-Biedl syndrome |
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ARL6 |
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BBS1 |
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BBS10 |
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BBS12 |
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BBS2 |
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BBS4 |
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BBS5 |
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BBS7 |
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CEP290 |
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MKKS |
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MKS1 |
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PTHB1 |
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|
|
TRIM32 |
|
|
|
|
|
TTC8 |
|
|
|
|
|
WDPCP |
|
|
|
|
Medullary cystic disease complex |
|
|
|
|
|
Medullary cystic kidney disease 2 |
|
|
|
|
|
|
UMOD |
|
|
|
|
|
Nephronophthisis |
|
|
|
|
|
|
Nephronophthisis 1 |
|
|
|
|
|
|
|
NPHP1 |
|
|
|
|
|
|
Nephronophthisis 2 |
|
|
|
|
|
|
|
INVS |
|
|
|
|
|
|
Nephronophthisis 3 |
|
|
|
|
|
|
|
NPHP3 |
|
|
|
|
|
|
Nephronophthisis 4 |
|
|
|
|
|
|
|
NPHP4 |
|
|
|
|
|
|
Nephronophthisis 6 |
|
|
|
|
|
|
|
CEP290 |
|
|
|
Kidney disease appearing as endocrinological disorders |
|
|
|
|
Liddle syndrome |
|
|
|
|
|
NEDD4 |
|
|
|
|
|
NEDD4L |
|
|
|
|
|
NR3C2 |
|
|
|
|
|
SCNN1B |
|
|
|
|
|
SCNN1G |
|
|
|
|
Nephrogenic diabetes insipidus |
|
|
|
|
|
AQP2 |
|
|
|
|
|
AVPR2 |
|
|
|
|
Pseudohypoaldosteronism |
|
|
|
|
|
Pseudohypoaldosteronism type 2 |
|
|
|
|
|
|
WNK1 |
|
|
|
|
|
|
WNK4 |
|
|
|
|
|
Pseudohypoaldosteronism type1 |
|
|
|
|
|
|
NR3C2 |
|
|
|
|
|
|
SCNN1A |
|
|
|
|
|
|
SCNN1B |
|
|
|
|
|
|
SCNN1G |
|
|
|
|
Pseudohypoparathyroidism |
|
|
|
|
|
Albright hereditary osteodystrophy |
|
|
|
|
|
|
GNAS |
|
|
|
|
|
Pseudohypoparathyroidism type IB |
|
|
|
|
|
|
GNAS |
|
|
|
|
|
|
STX16 |
|
|
|
Thrombotic microangiopathies |
|
|
|
|
Hemolytic-Uremic Syndrome |
|
|
|
|
|
ADAMTS13 |
|
|
|
|
|
C3 |
|
|
|
|
|
CFB |
|
|
|
|
|
CFH |
|
|
|
|
|
CFHR1 |
|
|
|
|
|
CFHR2 |
|
|
|
|
|
CFHR3 |
|
|
|
|
|
CFHR4 |
|
|
|
|
|
CFHR5 |
|
|
|
|
|
CFI |
|
|
|
|
|
MCP |
|
|
|
|
|
THBD |
|
|
|
|
Thrombotic Thrombocytopenic Purpura |
|
|
|
|
|
ADAMTS13 |
|
|
|
Urolithiasis |
|
|
|
|
Cystinuria |
|
|
|
|
|
SLC3A1 |
|
|
|
|
|
SLC7A9 |
|
|
|
|
Dihydroxyadenin urolithiasis |
|
|
|
|
|
APRT |
|
|
|
|
Hyperuricemic nephropathy |
|
|
|
|
|
Hyperuricemic nephropathy, familial juvenile 1 |
|
|
|
|
|
|
UMOD |
|
|
|
|
|
Hyperuricemic nephropathy, familial juvenile 2 |
|
|
|
|
|
|
REN |
|
|
|
|
|
Kelley-Seegmiller syndrome |
|
|
|
|
|
|
HPRT1 |
|
|
|
|
|
Lesch-Nyhan syndrome |
|
|
|
|
|
|
HPRT1 |
|
|
|
|
|
Renal Hypouricemia |
|
|
|
|
|
|
SLC22A12 |
|
|
|
|
Nephrocalcinosis |
|
|
|
|
|
|
|
|
|
|
|
|
CYP24A1 |
|
|
|
|
|
Bartter syndrome |
|
|
|
|
|
|
Antenatal Bartter syndrome type 1 |
|
|
|
|
|
|
|
SLC12A1 |
|
|
|
|
|
|
Antenatal Bartter syndrome type 2 |
|
|
|
|
|
|
|
KCNJ1 |
|
|
|
|
|
|
Classic Bartter syndrome |
|
|
|
|
|
|
|
CLCNKB |
|
|
|
|
|
|
Infantile Bartter syndrome with deafness type 4 |
|
|
|
|
|
|
|
BSND |
|
|
|
|
|
|
|
CLCNKA |
|
|
|
|
|
|
|
CLCNKB |
|
|
|
|
|
Dent disease |
|
|
|
|
|
|
CLCN5 |
|
|
|
|
|
|
OCRL1 |
|
|
|
|
|
Hereditary Rickets |
|
|
|
|
|
|
Autosomal recessive hypophosphatemic rickets type 1 |
|
|
|
|
|
|
|
DMP1 |
|
|
|
|
|
|
Autosomal recessive hypophosphatemic rickets type 2 |
|
|
|
|
|
|
|
ENPP1 |
|
|
|
|
|
|
Dent disease |
|
|
|
|
|
|
|
CLCN5 |
|
|
|
|
|
|
|
OCRL1 |
|
|
|
|
|
|
Lowe disease |
|
|
|
|
|
|
|
OCRL1 |
|
|
|
|
|
|
Vitamin D hydroxylation-deficient rickets type 1A |
|
|
|
|
|
|
|
CYP27B1 |
|
|
|
|
|
|
Vitamin D hydroxylation-deficient rickets type 1B |
|
|
|
|
|
|
|
CYP2R1 |
|
|
|
|
|
|
Vitamin D-dependent rickets, type 2A |
|
|
|
|
|
|
|
VDR |
|
|
|
|
|
|
Vitamin D-dependent rickets, type 2B |
|
|
|
|
|
|
|
RXRA |
|
|
|
|
|
|
autosomal dominant hypophosphatemic rickets |
|
|
|
|
|
|
|
FGF23 |
|
|
|
|
|
|
x-linked dominant hypophosphatemic rickets |
|
|
|
|
|
|
|
PHEX |
|
|
|
|
|
Hyperoxaluria |
|
|
|
|
|
|
Hyperoxaluria type I |
|
|
|
|
|
|
|
AGXT |
|
|
|
|
|
|
Hyperoxaluria type II |
|
|
|
|
|
|
|
GRHPR |
|
|
|
|
|
Hypomagnesemia with hypercalciuria and nephrocalcinosis |
|
|
|
|
|
|
CLDN16 |
|
|
|
|
|
Hypomagnesemia with hypercalciuria and nephrocalcinosis with ocular involvement |
|
|
|
|
|
|
CLDN19 |
|
|
|
|
|
Lowe disease |
|
|
|
|
|
|
OCRL1 |
|
|
|
|
|
Renal tubular acidosis |
|
|
|
|
|
|
ATP6V0A4 |
|
|
|
|
|
|
ATP6V1B1 |
|
|
|
|
|
|
CA2 |
|
|
|
|
|
|
SLC4A1 |
|
|
|
|
|
|
SLC4A4 |
|
|
|
|
Nephrolithiasis diarrhea syndrome |
|
|
|
|
|
SLC26A6 |
|
|
Hereditary metabolic diseases |
|
|
|
Disturbances of glucose metabolism |
|
|
|
|
Diabetes mellitus |
|
|
|
|
|
Diabetic nephropathy |
|
|
|
|
|
|
ACE |
|
|
|
|
|
|
AGT |
|
|
|
|
|
|
AKR1B1 |
|
|
|
|
|
Diabetic retinopathy |
|
|
|
|
|
|
PON1 |
|
|
|
|
|
|
VEGFA |
|
|
|
|
|
MODY diabetes |
|
|
|
|
|
|
MODY1 diabetes |
|
|
|
|
|
|
|
HNF4A |
|
|
|
|
|
|
MODY10 diabetes |
|
|
|
|
|
|
|
INS |
|
|
|
|
|
|
MODY2 diabetes |
|
|
|
|
|
|
|
GCK |
|
|
|
|
|
|
MODY3 diabetes |
|
|
|
|
|
|
|
HNF1A |
|
|
|
|
|
|
MODY4 diabetes |
|
|
|
|
|
|
|
PDX1 |
|
|
|
|
|
|
MODY5 diabetes |
|
|
|
|
|
|
|
HNF1B |
|
|
|
|
|
|
MODY6 diabetes |
|
|
|
|
|
|
|
NEUROD1 |
|
|
|
|
|
|
MODY7 diabetes |
|
|
|
|
|
|
|
KLF11 |
|
|
|
|
|
|
MODY8 diabetes |
|
|
|
|
|
|
|
CEL |
|
|
|
|
|
|
MODY9 diabetes |
|
|
|
|
|
|
|
PAX4 |
|
|
|
|
|
Neonatal diabetes mellitus |
|
|
|
|
|
|
Permanent neonatal diabetes mellitus |
|
|
|
|
|
|
|
ABCC8 |
|
|
|
|
|
|
|
GCK |
|
|
|
|
|
|
|
INS |
|
|
|
|
|
|
|
KCNJ11 |
|
|
|
|
|
|
|
PDX1 |
|
|
|
|
|
|
|
Developmental delay, epilepsy, and neonatal diabetes |
|
|
|
|
|
|
|
|
KCNJ11 |
|
|
|
|
|
|
Transient neonatal diabetes mellitus 1 |
|
|
|
|
|
|
|
ZFP57 |
|
|
|
|
|
|
Transient neonatal diabetes mellitus 2 |
|
|
|
|
|
|
|
ABCC8 |
|
|
|
|
|
|
Transient neonatal diabetes mellitus 3 |
|
|
|
|
|
|
|
KCNJ11 |
|
|
|
|
Hyperinsulinemic hypoglycemia |
|
|
|
|
|
Hyperinsulinemic hypoglycemia 1 |
|
|
|
|
|
|
ABCC8 |
|
|
|
|
|
Hyperinsulinemic hypoglycemia 2 |
|
|
|
|
|
|
KCNJ11 |
|
|
|
|
|
Hyperinsulinemic hypoglycemia 3 |
|
|
|
|
|
|
GCK |
|
|
|
|
|
Hyperinsulinemic hypoglycemia 4 |
|
|
|
|
|
|
HADH |
|
|
|
|
|
Hyperinsulinemic hypoglycemia 5 |
|
|
|
|
|
|
INSR |
|
|
|
|
|
Hyperinsulinemic hypoglycemia 6 |
|
|
|
|
|
|
GLUD1 |
|
|
|
Glycolipidosis |
|
|
|
|
Inclusion body myopathy 2 |
|
|
|
|
|
GNE |
|
|
|
|
Infantile sialic acid storage disorder |
|
|
|
|
|
SLC17A5 |
|
|
|
|
Nonaka myopathy |
|
|
|
|
|
GNE |
|
|
|
|
Salla disease |
|
|
|
|
|
SLC17A5 |
|
|
|
|
Sialuria |
|
|
|
|
|
GNE |
|
|
|
HADH deficiency |
|
|
|
|
HADH |
|
|
|
Hemochromatosis |
|
|
|
|
HFE |
|
|
|
Histamine Intolerance |
|
|
|
|
ABP1 |
|
|
|
|
HNMT |
|
|
|
Hyperlipidemia |
|
|
|
|
APOB |
|
|
|
|
APOC2 |
|
|
|
|
APOE |
|
|
|
|
LDLR |
|
|
|
|
LDLRAP1 |
|
|
|
|
LPL |
|
|
|
Hypomagnesemia |
|
|
|
|
EGFR |
|
|
|
|
TRPM7 |
|
|
|
|
Gitelman syndrome |
|
|
|
|
|
SLC12A3 |
|
|
|
|
Hypomagnesemia with hypercalciuria and nephrocalcinosis |
|
|
|
|
|
CLDN16 |
|
|
|
|
Hypomagnesemia with hypercalciuria and nephrocalcinosis with ocular involvement |
|
|
|
|
|
CLDN19 |
|
|
|
|
Hypomagnesemia with normocalciuria |
|
|
|
|
|
EGF |
|
|
|
|
Hypomagnesemia with secondary hypocalcemia |
|
|
|
|
|
TRPM6 |
|
|
|
|
Isolated dominant hypomagnesemia |
|
|
|
|
|
FXYD2 |
|
|
|
Lysosomal storage disease |
|
|
|
|
Cystinosis |
|
|
|
|
|
CTNS |
|
|
|
|
Fabry disease |
|
|
|
|
|
GLA |
|
|
|
|
Infantile sialic acid storage disorder |
|
|
|
|
|
SLC17A5 |
|
|
|
|
Salla disease |
|
|
|
|
|
SLC17A5 |
|
|
|
Methionine adenosyltransferase deficiency |
|
|
|
|
MAT1A |
|
|
|
Urea cycle disorders |
|
|
|
|
Citrullinemia |
|
|
|
|
|
SLC25A13 |
|
|
|
|
Citrullinemia |
|
|
|
|
|
Citrullinemia |
|
|
|
|
|
|
SLC25A13 |
|
|
|
|
|
Citrullinemia type 1 |
|
|
|
|
|
|
ASS1 |
|
|
Hereditary neurological disorders |
|
|
|
Alzheimer disease |
|
|
|
|
APOE |
|
|
|
|
CYP2D6 |
|
|
|
|
HFE |
|
|
Hereditary ocular disease and visual impairment |
|
|
|
Juvenile onset glaucoma |
|
|
|
|
CYP1B1 |
|
|
|
|
LMX1B |
|
|
|
|
MYOC |
|
|
Hereditary vascular disease |
|
|
|
Arteriosclerosis |
|
|
|
|
APOB |
|
|
|
|
APOE |
|
|
|
|
HABP2 |
|
|
|
|
LDLR |
|
|
|
|
MTHFR |
|
|
|
|
PON1 |
|
|
|
|
SLC3A1 |
|
|
|
Thromboembolic diseases |
|
|
|
|
F2 |
|
|
|
|
F5 |
|
|
|
|
HABP2 |
|
|
|
|
MTHFR |
|
|
|
|
PROC |
|
|
|
|
PROS1 |
|
|
|
|
SERPINC1 |
|
|
|
|
THBD |
|
|
|
|
VKORC1 |
|
|
Hypertension |
|
|
|
ACE |
|
|
|
ACE2 |
|
|
|
AGT |
|
|
|
Monogenic hypertension |
|
|
|
|
Apparent mineralocorticoid excess |
|
|
|
|
|
HSD11B2 |
|
|
|
|
Glucocorticoid-remediable aldosteronism |
|
|
|
|
|
CYP11B1 |
|
|
|
|
|
CYP11B2 |
|
|
|
|
Liddle syndrome |
|
|
|
|
|
NEDD4 |
|
|
|
|
|
NEDD4L |
|
|
|
|
|
NR3C2 |
|
|
|
|
|
SCNN1B |
|
|
|
|
|
SCNN1G |
|
|
|
|
Pseudohypoaldosteronism |
|
|
|
|
|
Pseudohypoaldosteronism type 2 |
|
|
|
|
|
|
WNK1 |
|
|
|
|
|
|
WNK4 |
|
|
|
|
|
Pseudohypoaldosteronism type1 |
|
|
|
|
|
|
NR3C2 |
|
|
|
|
|
|
SCNN1A |
|
|
|
|
|
|
SCNN1B |
|
|
|
|
|
|
SCNN1G |
|
|
hereditary diseases of the hematopoetic system and coagulopathies |
|
|
|
Hereditary bleeding disorders |
|
|
|
|
Disturbances of vitamin K metabolism |
|
|
|
|
|
Combined deficiency of vitamin K-dependent clotting factors type 1 |
|
|
|
|
|
|
GGCX |
|
|
|
|
|
Combined deficiency of vitamin K-dependent clotting factors type 2 |
|
|
|
|
|
|
VKORC1 |
|
|
|
|
|
Coumarin resistance |
|
|
|
|
|
|
CYP2A6 |
|
|
|
|
|
|
CYP2C9 |
|
|
|
|
|
|
CYP4F2 |
|
|
|
|
|
|
VKORC1 |
|
|
|
Inherited disorders of platelets |
|
|
|
|
Alloimmune thrombocytopenia |
|
|
|
|
|
ITGA2B |
|
|
|
|
|
ITGB3 |
|
|
|
|
Bernard-Soulier syndrome |
|
|
|
|
|
GP1BA |
|
|
|
|
|
GP1BB |
|
|
|
|
|
GP9 |
|
|
|
|
Thrombasthenia of Glanzmann and Naegeli |
|
|
|
|
|
ITGA2B |
|
|
|
|
|
ITGB3 |
|
|
|
Ovalocytosis |
|
|
|
|
SLC4A1 |
|
|
|
Paroxysmal nocturnal hemoglobinuria |
|
|
|
|
PIGA |
|
|
|
Thromboembolic diseases |
|
|
|
|
F2 |
|
|
|
|
F5 |
|
|
|
|
HABP2 |
|
|
|
|
MTHFR |
|
|
|
|
PROC |
|
|
|
|
PROS1 |
|
|
|
|
SERPINC1 |
|
|
|
|
THBD |
|
|
|
|
VKORC1 |
|
 |
|
|
|
|
|
|
|
|
|
