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2015-08-04
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R-HSA-3560792
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Defective SLC26A2 causes chondrodysplasias
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2015-08-04
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R-HSA-5619102
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SLC transporter disorders
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2015-08-04
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R-HSA-5659735
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Defective SLC6A19 causes Hartnup disorder (HND)
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2015-08-04
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R-HSA-5660883
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Defective SLC7A9 causes cystinuria (CSNU)
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2015-08-04
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R-HSA-5659729
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Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria
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2015-08-04
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R-HSA-5619037
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Defective SLC35A1 causes congenital disorder of glycosylation 2F (CDG2F)
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2015-08-04
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R-HSA-5619036
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Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6)
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2015-08-04
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R-HSA-5619039
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Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN)
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2015-08-04
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R-HSA-5619035
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Defective SLC17A5 causes Salla disease (SD) and ISSD
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2015-08-04
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R-HSA-5619061
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Defective SLC33A1 causes spastic paraplegia 42 (SPG42)
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2015-08-04
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R-HSA-5619060
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Defective CP causes aceruloplasminemia (ACERULOP)
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2015-08-04
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R-HSA-5655799
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Defective SLC40A1 causes hemochromatosis 4 (HFE4) (duodenum)
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2015-08-04
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R-HSA-5619063
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Defective SLC29A3 causes histiocytosis-lymphadenopathy plus syndrome (HLAS)
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2015-08-04
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R-HSA-5619062
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Defective SLC1A3 causes episodic ataxia 6 (EA6)
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2015-08-04
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R-HSA-5619056
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Defective HK1 causes hexokinase deficiency (HK deficiency)
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2015-08-04
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R-HSA-5619058
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Defective SLCO1B3 causes hyperbilirubinemia, Rotor type (HBLRR)
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2015-08-04
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R-HSA-5619068
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Defective SLC2A10 causes arterial tortuosity syndrome (ATS)
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2015-08-04
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R-HSA-5619071
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Defective SLC22A12 causes renal hypouricemia 1 (RHUC1)
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2015-08-04
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R-HSA-5619070
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Defective SLC16A1 causes symptomatic deficiency in lactate transport (SDLT)
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2015-08-04
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R-HSA-5619067
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Defective SLC1A1 is implicated in schizophrenia 18 (SCZD18) and dicarboxylic aminoaciduria (DCBXA)
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2015-08-04
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R-HSA-5619066
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Defective SLC22A18 causes lung cancer (LNCR) and embryonal rhabdomyosarcoma 1 (RMSE1)
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2015-08-04
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R-HSA-5619045
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Defective SLC34A2 causes pulmonary alveolar microlithiasis (PALM)
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2015-08-04
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R-HSA-5658471
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Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)
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2015-08-04
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R-HSA-5619044
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Defective SLC6A19 causes Hartnup disorder (HND)
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2015-08-04
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R-HSA-5619047
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Defective SLC2A9 causes hypouricemia renal 2 (RHUC2)
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2015-08-04
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R-HSA-5619046
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Defective SLC26A4 causes Pendred syndrome (PDS)
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2015-08-04
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R-HSA-5619041
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Defective SLC36A2 causes iminoglycinuria (IG) and hyperglycinuria (HG)
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2015-08-04
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R-HSA-9036092
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Defective AVP does not bind AVPR2 and causes neurohypophyseal diabetes insipidus (NDI)
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2015-08-04
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R-HSA-5619040
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Defective SLC34A1 causes hypophosphatemic nephrolithiasis/osteoporosis 1 (NPHLOP1)
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2015-08-04
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R-HSA-5619043
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Defective SLC2A1 causes GLUT1 deficiency syndrome 1 (GLUT1DS1)
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2015-08-04
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R-HSA-5658208
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Defective SLC5A2 causes renal glucosuria (GLYS1)
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2015-08-04
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R-HSA-5619042
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Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN)
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2015-08-04
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R-HSA-5619053
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Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP)
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2015-08-04
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R-HSA-5619052
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Defective SLC9A9 causes autism 16 (AUTS16)
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2015-08-04
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R-HSA-5619055
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Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI)
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2015-08-04
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R-HSA-5619054
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Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA)
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2015-08-04
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R-HSA-5619049
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Defective SLC40A1 causes hemochromatosis 4 (HFE4) (macrophages)
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2015-08-04
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R-HSA-5619048
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Defective SLC11A2 causes hypochromic microcytic anemia, with iron overload 1 (AHMIO1)
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2015-08-04
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R-HSA-5619050
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Defective SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA)
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2015-08-04
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R-HSA-5619092
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Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH)
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2015-08-04
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R-HSA-5619095
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Defective SLCO2A1 causes primary, autosomal recessive hypertrophic osteoarthropathy 2 (PHOAR2)
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2015-08-04
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R-HSA-5619094
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Variant SLC6A14 may confer susceptibility towards obesity
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2015-08-04
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R-HSA-5619089
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Defective SLC6A5 causes hyperekplexia 3 (HKPX3)
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2015-08-04
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R-HSA-5619088
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Defective SLC39A4 causes acrodermatitis enteropathica, zinc-deficiency type (AEZ)
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2015-08-04
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R-HSA-5619101
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Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)
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2015-08-04
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R-HSA-5619097
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Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH)
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2015-08-04
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R-HSA-5619096
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Defective SLC5A5 causes thyroid dyshormonogenesis 1 (TDH1)
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2015-08-04
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R-HSA-5619099
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Defective AVP does not bind AVPR1A,B and causes neurohypophyseal diabetes insipidus (NDI)
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2015-08-04
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R-HSA-5619098
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Defective SLC2A2 causes Fanconi-Bickel syndrome (FBS)
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2015-08-04
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R-HSA-5619077
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Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D)
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2015-08-04
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R-HSA-5619076
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Defective SLC17A8 causes autosomal dominant deafness 25 (DFNA25)
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2015-08-04
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R-HSA-5619079
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Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria
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2015-08-04
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R-HSA-5619078
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Defective SLC35C1 causes congenital disorder of glycosylation 2C (CDG2C)
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2015-08-04
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R-HSA-5619073
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Defective GCK causes maturity-onset diabetes of the young 2 (MODY2)
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2015-08-04
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R-HSA-5619072
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Defective SLC35A2 causes congenital disorder of glycosylation 2M (CDG2M)
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2015-08-04
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R-HSA-5619085
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Defective SLC26A3 causes congenital secretory chloride diarrhea 1 (DIAR1)
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2015-08-04
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R-HSA-5660686
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Variant SLC6A20 contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)
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2015-08-04
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R-HSA-5619087
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Defective SLC12A3 causes Gitelman syndrome (GS)
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2015-08-04
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R-HSA-5619081
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Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)
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2015-08-04
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R-HSA-5619083
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Defective SLC35A3 causes arthrogryposis, mental retardation, and seizures (AMRS)
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2015-08-04
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R-HSA-5660724
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Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)
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2015-08-04
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R-HSA-5660862
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Defective SLC7A7 causes lysinuric protein intolerance (LPI)
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2015-08-04
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R-HSA-5619109
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Defective SLC6A2 causes orthostatic intolerance (OI)
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2015-08-04
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R-HSA-5619108
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Defective SLC27A4 causes ichthyosis prematurity syndrome (IPS)
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2015-08-04
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R-HSA-5619111
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Defective SLC20A2 causes idiopathic basal ganglia calcification 1 (IBGC1)
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2015-08-04
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R-HSA-5619110
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Defective SLCO1B1 causes hyperbilirubinemia, Rotor type (HBLRR)
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2015-08-04
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R-HSA-5619104
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Defective SLC12A1 causes Bartter syndrome 1 (BS1)
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2015-08-04
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R-HSA-5619107
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Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)
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2015-08-04
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R-HSA-5663020
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Defective SLC35A1 causes congenital disorder of glycosylation 2F (CDG2F)
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2015-08-04
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R-HSA-5656364
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Defective SLC5A1 causes congenital glucose/galactose malabsorption (GGM)
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2015-08-04
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R-HSA-5619113
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Defective SLC3A1 causes cystinuria (CSNU)
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2015-08-04
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R-HSA-5619114
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Defective SLC5A7 causes distal hereditary motor neuronopathy 7A (HMN7A)
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