Hereditary diseases
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Disposition to infections
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Genetic alterations of drug tolerance
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Hereditary broncho-pulmonary disease
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Hereditary cardiac disease
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Hereditary dermatological disorders
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Hereditary diseases of the hematopoetic system and coagulopathies
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Hereditary endocrinological diseases
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Hereditary immunological disorders
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Hereditary kidney diseases
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Hereditary liver disease
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Hereditary malformations
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Hereditary metabolic diseases
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Coenzyme Q10 deficiency
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Coenzyme Q10 deficiency 1
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COQ2
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Coenzyme Q10 deficiency 2
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PDSS1
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Coenzyme Q10 deficiency 3
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PDSS2
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Coenzyme Q10 deficiency 4
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COQ8A
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Coenzyme Q10 deficiency 5
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COQ9
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Coenzyme Q10 deficiency 6
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COQ6
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Congenital disorder of glycosylation
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Congenital disorder of glycosylation 1A
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PMM2
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Congenital disorder of glycosylation 1L
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ALG9
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Congenital disorder of glycosylation 1N
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RFT1
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Gillessen-Kaesbach-Nishimura syndrome
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ALG9
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Disorders of cobalamin metabolism
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Classical homocysteinuria
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CBS
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Homocystinuria-megaloblastic anemia cblE
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MTRR
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Homocystinuria-megaloblastic anemia cblG
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MTR
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Methylmalonic aciduria and homocystinuria cblC
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MMACHC
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Methylmalonic aciduria and homocystinuria cblD
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MMADHC
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Methylmalonic aciduria and homocystinuria cblF
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LMBRD1
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Methylmalonic aciduria and homocystinuria cblJ
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ABCD4
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Methylmalonic aciduria cblA
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MMAA
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Methylmalonic aciduria cblB
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MMAB
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Methylmalonic aciduria type mut
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MUT
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Disorders of iron metabolism
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Aceruloplasminemia/Hypoceruloplasminemia
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CP
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Hemochromatosis
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Hemochromatosis 1
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BMP2
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HFE
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Hemochromatosis 2a
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HFE2
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Hemochromatosis 2b
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HAMP
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Hemochromatosis 3
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TFR2
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Hemochromatosis 4
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SLC40A1
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Hemochromatosis 5
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FTH1
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Hyperferritinemia-cataract syndrome
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FTL
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L-ferritin deficiency
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FTL
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Neurodegeneration with brain iron accumulation 3
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FTL
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Disorders of urate metabolism
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Gout PRPS-related
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PRPS1
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Hyperuricemia
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Gout susceptibility 1
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ABCG2
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Hyperuricemic nephropathy
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Hyperuricemic nephropathy, familial juvenile 1
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UMOD
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Hyperuricemic nephropathy, familial juvenile 2
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REN
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Kelley-Seegmiller syndrome
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HPRT1
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Lesch-Nyhan syndrome
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HPRT1
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Hypouricemia
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Renal Hypouricemia
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SLC22A12
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SLC2A9
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Phosphoribosylpyrophosphate synthetase superactivity
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PRPS1
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Disturbances in phosphate metabolism
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Familial tumoral calcinosis
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Familial normophosphatemic tumoral calcinosis
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SAMD9
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Hyperphosphatemic familial tumoral calcinosis
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FGF23
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GALNT3
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KL
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Hypophosphatasia
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Adult hypophosphatasia
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ALPL
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Childhood hypophosphatasia
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ALPL
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Infantile hypophosphatasia
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ALPL
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Odontohypophosphatasia
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ALPL
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Hypophosphatemic bone and kindney disease
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Disorders of the renal phosphate transporters
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Hypophosphatemic rickets with hypercalciuria
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SLC34A3
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Idiopathic basal ganglia calcification 1
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SLC20A2
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Nephrolithiasis/osteoporosis, hypophosphatemic, 1
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SLC34A1
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Nephrolithiasis/osteoporosis, hypophosphatemic, 2
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SLC9A3R1
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FGF23-induced hypophosphatemic rickets
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Autosomal dominant hypophosphatemic rickets
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FGF23
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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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X-linked dominant hypophosphatemic rickets
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PHEX
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Fanconi-type hypophosphatemic rickets
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Nephrolithiasis/osteoporosis, hypophosphatemic, 1
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SLC34A1
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X-linked recessive hypophosphatemic rickets
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CLCN5
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OCRL
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Hypophosphatemic rickets with hyperparathyroidism
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KL
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Osteoglophonic dysplasia
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FGFR1
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Raine syndrome
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FAM20C
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X-linked dominant hypophosphatemic rickets
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PHEX
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Disturbances of glucose metabolism
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Diabetes mellitus
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Diabetic nephropathy
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ACE
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AGT
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AKR1B1
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Diabetic retinopathy
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PON1
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VEGFA
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Gestational diabetes mellitus
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MODY diabetes
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MODY1 diabetes
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HNF4A
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MODY10 diabetes
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INS
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MODY11 diabetes
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BLK
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MODY12 diabetes
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ABCC8
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MODY13 diabetes
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KCNJ11
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MODY14 diabetes
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APPL1
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MODY2 diabetes
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GCK
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MODY3 diabetes
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HNF1A
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MODY4 diabetes
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PDX1
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MODY5 diabetes
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HNF1B
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MODY6 diabetes
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NEUROD1
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MODY7 diabetes
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KLF11
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MODY8 diabetes
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CEL
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MODY9 diabetes
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PAX4
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Mannose-binding protein deficiency
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MBL2
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Mitchell-Riley syndrome
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RFX6
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Partial lipodystrophy
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Familial partial lipodystrophy type 2
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LMNA
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Familial partial lipodystrophy type 3
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PPARG
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Familial partial lipodystrophy type 4
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PLIN1
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Familial partial lipodystrophy type 5
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CIDEC
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Susceptibility to type 1 diabetes 01
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PTPN22
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TRPM6
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Hereditary susceptibility to diabetes
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IRS1
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MAPK8IP1
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PDX1
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SH2B1
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TBC1D1
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Insulin resistance
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CIDEC
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Diabetes mellitus with insulin resistance and acanthosis nigricans
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INSR
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ENPP1
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IRS1
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IRS2
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PPARG
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MODY diabetes
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MODY1 diabetes
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HNF4A
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MODY10 diabetes
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INS
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MODY11 diabetes
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BLK
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MODY12 diabetes
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ABCC8
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MODY13 diabetes
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KCNJ11
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MODY14 diabetes
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APPL1
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MODY2 diabetes
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GCK
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MODY3 diabetes
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HNF1A
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MODY4 diabetes
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PDX1
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MODY5 diabetes
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HNF1B
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MODY6 diabetes
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NEUROD1
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MODY7 diabetes
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KLF11
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MODY8 diabetes
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CEL
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MODY9 diabetes
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PAX4
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Mitochondrial diabetes
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MT-TE
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MT-TK
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MT-TL1
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MT-TS2
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Neonatal diabetes mellitus
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Leprechaunism
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INSR
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Mitchell-Riley syndrome
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RFX6
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Neonatal diabetes mellitus with congenital hypothyroidism
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GLIS3
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Pancreatogenic diabetes
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Mitchell-Riley syndrome
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RFX6
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Pancreatic agenesis 1
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PDX1
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Pancreatic agenesis 2
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PTF1A
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Pancreatic agenesis and congenital heart defects
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GATA6
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Permanent neonatal diabetes mellitus
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ABCC8
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Developmental delay, epilepsy, and neonatal diabetes
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KCNJ11
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GCK
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INS
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KCNJ11
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Phosphoribosylpyrophosphate synthetase superactivity
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PRPS1
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Wolcott-Rallison syndrome
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EIF2AK3
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Rabson-Mendenhall syndrome
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INSR
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Renal cysts and diabetes (RCAD)
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HNF1B
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Transient neonatal diabetes mellitus 1
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HYMAI
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PLAGL1
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ZFP57
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Transient neonatal diabetes mellitus 2
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ABCC8
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Transient neonatal diabetes mellitus 3
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KCNJ11
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X-linked immunodysregulation, polyendocrinopathy, and enteropathy
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FOXP3
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Noninsulin-dependent diabetes mellitus 1
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CAPN10
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Pancreatogenic diabetes
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Mitchell-Riley syndrome
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RFX6
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Pancreatic agenesis 1
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PDX1
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Pancreatic agenesis 2
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PTF1A
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Pancreatic agenesis and congenital heart defects
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GATA6
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Severe obesity and type 2 diabetes
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UCP3
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Susceptibility to type 1 diabetes 01
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PTPN22
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Disturbed regulators of lipid and carbohydrate metabolism
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GCKR
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GPD1
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MLXIPL
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TRIB1
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Fasting plasma glucose trait loci
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G6PC2
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GCKR
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Hyperinsulinemic hypoglycemia
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HNF1A
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HNF4A
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Hyperinsulinemic hypoglycemia 1
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ABCC8
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Hyperinsulinemic hypoglycemia 2
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KCNJ11
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Hyperinsulinemic hypoglycemia 3
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GCK
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Hyperinsulinemic hypoglycemia 4
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HADH
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Hyperinsulinemic hypoglycemia 5
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INSR
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Hyperinsulinemic hypoglycemia 6
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GLUD1
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Hyperinsulinemic hypoglycemia 7
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SLC16A1
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Polycystic kidney disease with hyperinsulinemic hypoglycemia
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PMM2
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Hypoinsulinemic hypoglycemia
|
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AKT2
|
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|
Food intolerance
|
|
|
|
Adult type lactose intolerance
|
|
|
|
|
LCT
|
|
|
|
|
MCM6
|
|
|
|
Eosinophil peroxidase deficiency
|
|
|
|
|
EPX
|
|
|
|
Fructose intolerance
|
|
|
|
|
ALDOB
|
|
|
|
Fructose malabsorption
|
|
|
|
|
SLC2A5
|
|
|
|
Fructose-1,6-bisphosphatase deficiency
|
|
|
|
|
FBP1
|
|
|
|
Fructosuria
|
|
|
|
|
KHK
|
|
|
|
Glucose-Galactose Malabsorption
|
|
|
|
|
SLC5A1
|
|
|
|
Histamine Intolerance
|
|
|
|
|
AOC1
|
|
|
|
|
HNMT
|
|
|
|
|
MAOA
|
|
|
|
|
MAOB
|
|
|
|
Lactase deficiency
|
|
|
|
|
LCT
|
|
|
|
Lysinuric protein intolerance
|
|
|
|
|
SLC7A7
|
|
|
|
Mast cell activation syndrome
|
|
|
|
|
KIT
|
|
|
|
Sitosterolemia
|
|
|
|
|
ABCG5
|
|
|
|
|
ABCG8
|
|
|
|
Trehalase deficiency
|
|
|
|
|
TREH
|
|
|
Genetic hyperbilirubinemia
|
|
|
|
Crigler-Najjar syndrome 1
|
|
|
|
|
UGT1A
|
|
|
|
Crigler-Najjar syndrome 2
|
|
|
|
|
UGT1A
|
|
|
|
Dubin-Johnson syndrome
|
|
|
|
|
ABCC2
|
|
|
|
Familial transient neonatal hyperbilirubinemia
|
|
|
|
|
UGT1A
|
|
|
|
Gilbert syndrome
|
|
|
|
|
UGT1A
|
|
|
|
Rotor type hyperbilirubinemia
|
|
|
|
|
SLCO1B1
|
|
|
|
|
SLCO1B3
|
|
|
Glycolipidosis
|
|
|
|
Inclusion body myopathy 2
|
|
|
|
|
GNE
|
|
|
|
Infantile sialic acid storage disorder
|
|
|
|
|
SLC17A5
|
|
|
|
Nonaka myopathy
|
|
|
|
|
GNE
|
|
|
|
Salla disease
|
|
|
|
|
SLC17A5
|
|
|
|
Sialuria
|
|
|
|
|
GNE
|
|
|
HADH deficiency
|
|
|
|
HADH
|
|
|
Hereditary disorders protein metabolism
|
|
|
|
Aceruloplasminemia/Hypoceruloplasminemia
|
|
|
|
|
CP
|
|
|
|
Congenital analbuminemia
|
|
|
|
|
ALB
|
|
|
Hereditary lipid disorders
|
|
|
|
Attenuated cholesterol lowering by statins
|
|
|
|
|
HMGCR
|
|
|
|
|
KIF6
|
|
|
|
Disorders of mRNA editing
|
|
|
|
|
APOBEC1
|
|
|
|
|
APOBEC2
|
|
|
|
|
APOBEC3A
|
|
|
|
|
APOBEC3B
|
|
|
|
|
APOBEC3C
|
|
|
|
|
APOBEC3D
|
|
|
|
|
APOBEC3F
|
|
|
|
|
APOBEC3G
|
|
|
|
|
APOBEC3H
|
|
|
|
|
APOBEC4
|
|
|
|
Disturbances of body fat distribution
|
|
|
|
|
Inherited leanness
|
|
|
|
|
|
AGRP
|
|
|
|
|
Lipodystrophy
|
|
|
|
|
|
Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome
|
|
|
|
|
|
|
PSMA3
|
|
|
|
|
|
|
PSMB4
|
|
|
|
|
|
|
PSMB8
|
|
|
|
|
|
|
PSMB9
|
|
|
|
|
|
|
PSMG2
|
|
|
|
|
|
Generalized lipodystrophy
|
|
|
|
|
|
|
Congenital generalized lipodystrophy type 2
|
|
|
|
|
|
|
|
BSCL2
|
|
|
|
|
|
|
Generalized lipodystrophy type 1
|
|
|
|
|
|
|
|
AGPAT2
|
|
|
|
|
|
Partial lipodystrophy
|
|
|
|
|
|
|
Familial partial lipodystrophy type 2
|
|
|
|
|
|
|
|
LMNA
|
|
|
|
|
|
|
Familial partial lipodystrophy type 3
|
|
|
|
|
|
|
|
PPARG
|
|
|
|
|
|
|
Familial partial lipodystrophy type 4
|
|
|
|
|
|
|
|
PLIN1
|
|
|
|
|
|
|
Familial partial lipodystrophy type 5
|
|
|
|
|
|
|
|
CIDEC
|
|
|
|
|
Obesity
|
|
|
|
|
|
Autosomal dominant obesity
|
|
|
|
|
|
|
MC4R
|
|
|
|
|
|
Body mass index quantitative trait
|
|
|
|
|
|
|
BMI effecting trait 14
|
|
|
|
|
|
|
|
FTO
|
|
|
|
|
|
Early-onset obesity
|
|
|
|
|
|
|
NR0B2
|
|
|
|
|
|
|
POMC
|
|
|
|
|
|
Late-onset obesity
|
|
|
|
|
|
|
AGRP
|
|
|
|
|
|
Severe obesity
|
|
|
|
|
|
|
PPARG
|
|
|
|
|
|
|
SIM1
|
|
|
|
|
|
Severe obesity and type 2 diabetes
|
|
|
|
|
|
|
UCP3
|
|
|
|
|
|
Susceptibility to obesity
|
|
|
|
|
|
|
ADRB2
|
|
|
|
|
|
|
ADRB3
|
|
|
|
|
|
|
CARTPT
|
|
|
|
|
|
|
ENPP1
|
|
|
|
|
|
|
GHRL
|
|
|
|
|
|
|
PPARGC1B
|
|
|
|
|
|
|
SDC3
|
|
|
|
|
|
|
UCP1
|
|
|
|
Disturbed regulators of lipid and carbohydrate metabolism
|
|
|
|
|
GCKR
|
|
|
|
|
GPD1
|
|
|
|
|
MLXIPL
|
|
|
|
|
TRIB1
|
|
|
|
Dyslipidemia
|
|
|
|
|
Apolipoprotein deficiency
|
|
|
|
|
|
APOA5
|
|
|
|
|
|
APOB
|
|
|
|
|
|
APOC1
|
|
|
|
|
|
APOC2
|
|
|
|
|
|
APOC3
|
|
|
|
|
|
APOE
|
|
|
|
|
|
APOL1
|
|
|
|
|
|
APOM
|
|
|
|
|
|
Apolipoprotein A1 deficiency
|
|
|
|
|
|
|
APOA1
|
|
|
|
|
|
Apolipoprotein A2 deficiency
|
|
|
|
|
|
|
APOA2
|
|
|
|
|
|
Apolipoprotein F deficiency
|
|
|
|
|
|
|
APOF
|
|
|
|
|
|
Apolipoprotein H deficiency
|
|
|
|
|
|
|
APOH
|
|
|
|
|
|
CLU
|
|
|
|
|
Betalipoprotein deficiency
|
|
|
|
|
|
Abetalipoproteinemia
|
|
|
|
|
|
|
MTTP
|
|
|
|
|
|
Hypobetalipoproteinemia
|
|
|
|
|
|
|
ANGPTL3
|
|
|
|
|
|
|
APOB
|
|
|
|
|
Epigenetic dyslipidemia
|
|
|
|
|
|
ABCG1
|
|
|
|
|
|
CPT1A
|
|
|
|
|
|
MIR33B
|
|
|
|
|
|
SREBF1
|
|
|
|
|
|
TNIP1
|
|
|
|
|
|
TNNT1
|
|
|
|
|
Hyperalphalipoproteinemia 1
|
|
|
|
|
|
CETP
|
|
|
|
|
Hyperalphalipoproteinemia 2
|
|
|
|
|
|
APOC3
|
|
|
|
|
Hyperlipemia
|
|
|
|
|
|
Chylomicronemia
|
|
|
|
|
|
|
ABCA1
|
|
|
|
|
|
|
ABCG5
|
|
|
|
|
|
|
APOA5
|
|
|
|
|
|
|
APOC2
|
|
|
|
|
|
|
APOE
|
|
|
|
|
|
|
Chylomicron retention disease
|
|
|
|
|
|
|
|
SAR1B
|
|
|
|
|
|
|
GPIHBP1
|
|
|
|
|
|
|
LCAT
|
|
|
|
|
|
|
LIPA
|
|
|
|
|
|
|
LIPC
|
|
|
|
|
|
|
LMF1
|
|
|
|
|
|
|
LPL
|
|
|
|
|
|
|
SAR1B
|
|
|
|
|
|
Familial combined Hyperlipemia
|
|
|
|
|
|
|
Combined familial hyperlipidemia with VLDL overproduction
|
|
|
|
|
|
|
|
APOE
|
|
|
|
|
|
|
|
GCKR
|
|
|
|
|
|
|
|
OSBPL10
|
|
|
|
|
|
|
|
USF1
|
|
|
|
|
|
|
Combined familial hyperlipidemia with adipose tissue dysfunction
|
|
|
|
|
|
|
|
C5AR2
|
|
|
|
|
|
|
|
CREB3L3
|
|
|
|
|
|
|
|
LEPR
|
|
|
|
|
|
|
|
LIPE
|
|
|
|
|
|
|
|
PNPLA2
|
|
|
|
|
|
|
|
PPARG
|
|
|
|
|
|
|
|
USF1
|
|
|
|
|
|
|
Combined familial hyperlipidemia with dysfunctional LDL clearance
|
|
|
|
|
|
|
|
ATF6
|
|
|
|
|
|
|
|
LDLR
|
|
|
|
|
|
|
|
PCSK9
|
|
|
|
|
|
|
Combined familial hyperlipidemia with dysfunctional VLDL metabolism
|
|
|
|
|
|
|
|
ANGPTL8
|
|
|
|
|
|
|
|
APOA1
|
|
|
|
|
|
|
|
APOA4
|
|
|
|
|
|
|
|
APOA5
|
|
|
|
|
|
|
|
APOC3
|
|
|
|
|
|
|
|
CETP
|
|
|
|
|
|
|
|
GALNT2
|
|
|
|
|
|
|
|
LCAT
|
|
|
|
|
|
|
|
LIPC
|
|
|
|
|
|
|
|
LIPG
|
|
|
|
|
|
|
|
LPL
|
|
|
|
|
|
|
|
RXRG
|
|
|
|
|
|
|
|
USF1
|
|
|
|
|
|
Hypercholesterolemia
|
|
|
|
|
|
|
Autosomal dominant hypercholesterolemia 1
|
|
|
|
|
|
|
|
LDLR
|
|
|
|
|
|
|
Autosomal dominant hypercholesterolemia 2
|
|
|
|
|
|
|
|
APOB
|
|
|
|
|
|
|
Autosomal dominant hypercholesterolemia 3
|
|
|
|
|
|
|
|
PCSK9
|
|
|
|
|
|
|
Autosomal recessive hypercholesterolemia
|
|
|
|
|
|
|
|
LDLRAP1
|
|
|
|
|
|
|
Low density lipoprotein cholesterol level quantitative trait locus
|
|
|
|
|
|
|
|
HMGCR
|
|
|
|
|
|
|
Lp(a) hyperlipoproteinemia
|
|
|
|
|
|
|
|
LPA
|
|
|
|
|
|
Hypertriglyceridemia
|
|
|
|
|
|
|
APOA5
|
|
|
|
|
|
|
APOE
|
|
|
|
|
|
|
Combined lipase deficiency
|
|
|
|
|
|
|
|
LMF1
|
|
|
|
|
|
|
GPIHBP1
|
|
|
|
|
|
|
LIPC
|
|
|
|
|
|
|
LIPE
|
|
|
|
|
|
|
LPL
|
|
|
|
|
|
|
Plasma triglyceride level quantitative trait locus
|
|
|
|
|
|
|
|
ANGPTL4
|
|
|
|
|
|
|
Transient infantile hypertriglyceridemia
|
|
|
|
|
|
|
|
GPD1
|
|
|
|
|
|
Lysosomal acid lipase deficiency
|
|
|
|
|
|
|
LIPA
|
|
|
|
|
Hypoalphalipoproteinemia
|
|
|
|
|
|
ABCA1
|
|
|
|
|
|
APOA1
|
|
|
|
|
Hypobetalipoproteinemia
|
|
|
|
|
|
ANGPTL3
|
|
|
|
|
|
APOB
|
|
|
|
Hepatic CPT-deficiency type 1A
|
|
|
|
|
CPT1A
|
|
|
|
Neutral lipid storage disease
|
|
|
|
|
Neutral lipid storage disease with ichtiosis
|
|
|
|
|
|
ABHD5
|
|
|
|
|
Neutral lipid storage disease with myopathy
|
|
|
|
|
|
PNPLA2
|
|
|
|
Sea-blue histiocyte disease
|
|
|
|
|
APOE
|
|
|
|
Statin intolerance
|
|
|
|
|
SLCO1B1
|
|
|
|
Tangier Disease
|
|
|
|
|
ABCA1
|
|
|
Hypercatabolic hypoproteinemia
|
|
|
|
B2M
|
|
|
Hyperzincemia and hypercalprotectinemia
|
|
|
|
PSTPIP1
|
|
|
Hypomagnesemia
|
|
|
|
EGFR
|
|
|
|
Gitelman syndrome
|
|
|
|
|
SLC12A3
|
|
|
|
Hereditary myokymia type 1
|
|
|
|
|
KCNA1
|
|
|
|
Hypomagnesemia with hypercalciuria and nephrocalcinosis
|
|
|
|
|
CLDN16
|
|
|
|
Hypomagnesemia with hypercalciuria and nephrocalcinosis with ocular involvement
|
|
|
|
|
CLDN19
|
|
|
|
Hypomagnesemia with normocalciuria
|
|
|
|
|
EGF
|
|
|
|
Intestinal hypomagnesemia with secondary hypocalcemia
|
|
|
|
|
TRPM6
|
|
|
|
Isolated dominant hypomagnesemia
|
|
|
|
|
FXYD2
|
|
|
|
PPI-induced Hypomagnesemia
|
|
|
|
|
TRPM6
|
|
|
|
Renal cysts and diabetes (RCAD)
|
|
|
|
|
HNF1B
|
|
|
|
Renal hypomagnesemia 6
|
|
|
|
|
CNNM2
|
|
|
|
TRPM7
|
|
|
Hypomethylation syndrome
|
|
|
|
DNMT1
|
|
|
|
DNMT3A
|
|
|
|
DNMT3B
|
|
|
|
KHDC3L
|
|
|
|
MECP2
|
|
|
|
NLRP2
|
|
|
|
NLRP7
|
|
|
|
Recurrent hydatidiform mole 1
|
|
|
|
|
NLRP7
|
|
|
|
Recurrent hydatidiform mole 2
|
|
|
|
|
KHDC3L
|
|
|
|
ZFP57
|
|
|
Lysosomal storage disease
|
|
|
|
Chediak-Higashi syndrome
|
|
|
|
|
LYST
|
|
|
|
Cystinosis
|
|
|
|
|
CTNS
|
|
|
|
Fabry disease
|
|
|
|
|
GLA
|
|
|
|
Infantile sialic acid storage disorder
|
|
|
|
|
SLC17A5
|
|
|
|
Lysosomal acid lipase deficiency
|
|
|
|
|
LIPA
|
|
|
|
Salla disease
|
|
|
|
|
SLC17A5
|
|
|
|
Wolman disease
|
|
|
|
|
LIPA
|
|
|
MELAS syndrome
|
|
|
|
EHHADH
|
|
|
|
MT-ND1
|
|
|
|
MT-ND5
|
|
|
|
MT-ND6
|
|
|
|
MT-TC
|
|
|
|
MT-TH
|
|
|
|
MT-TK
|
|
|
|
MT-TQ
|
|
|
|
MT-TS1
|
|
|
|
MT-TS2
|
|
|
Methionine adenosyltransferase deficiency
|
|
|
|
MAT1A
|
|
|
Methylmalonic aciduria
|
|
|
|
Methylmalonic aciduria and homocystinuria cblC
|
|
|
|
|
MMACHC
|
|
|
|
Methylmalonic aciduria and homocystinuria cblD
|
|
|
|
|
MMADHC
|
|
|
|
Methylmalonic aciduria type mut
|
|
|
|
|
MUT
|
|
|
Urea cycle disorders
|
|
|
|
Argininosuccinic aciduria
|
|
|
|
|
ASL
|
|
|
|
Citrullinemia
|
|
|
|
|
Citrullinemia type 1
|
|
|
|
|
|
ASS1
|
|
|
|
|
Citrullinemia type 2
|
|
|
|
|
|
SLC25A13
|
|
|
|
Citrullinemia type 2
|
|
|
|
|
SLC25A13
|
|
|
|
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
|
|
|
|
|
SLC25A15
|
|
|
|
Ornithine aminotransferase deficiency
|
|
|
|
|
OAT
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Ornithine carbamoyltransferase deficiency
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OTC
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Hereditary musculoskeletal diseases
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Hereditary neurological disorders
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Hereditary ocular disease and visual impairment
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Hereditary otorhinolaryngological disorders
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Hereditary pancreatic disease
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Hereditary tumors
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Hereditary vascular disease
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Hypertension
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