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Diseases

NameOMIM NumberRelated Gene RecordWHO-ICD ClassificationMode of Inheritance
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5253700Sarcoglycan, GammaDiseases of the nervous systemAutosomal, Recessive
Citrullinemia, Classic215700Argininosuccinate Synthetase 1Endocrine, nutritional and metabolic diseasesAutosomal, Recessive
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation603133Congenital malformations, deformations and chromosomal abnormalitiesAutosomal, Recessive
Body Mass Index Quantitative Trait Locus 20618406Melanocortin 4 ReceptorEndocrine, nutritional and metabolic diseasesAutosomal, Recessive, Dominant
Spinal Muscular Atrophy, Distal, Autosomal Recessive607088Vaccinia-Related Kinase 1Diseases of the nervous systemAutosomal, Recessive

genes

NameOMIM NumberRelated Disease RecordNCBI Gene IDProtein NameUniprot ID
Sarcoglycan, Gamma608896 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 6445Gamma-sarcoglycanQ13326
Argininosuccinate Synthetase 1603470 Citrullinemia, Classic 445Argininosuccinate synthaseP00966
Melanocortin 4 Receptor155541 Body Mass Index Quantitative Trait Locus 20 4160Melanocortin receptor 4P32245
Sphingomyelin Phosphodiesterase 1, Acid Lysosomal607608 Niemann-Pick Disease, Type A; Niemann-Pick Disease, Type B 6609Sphingomyelin phosphodiesteraseP17405
Dihydrolipoamide Branched-Chain Transacylase248610 Maple Syrup Urine Disease 1629Dihydrolipoamide Branched-Chain TransacylaseP11182
NameOMIM NumberRelated Gene RecordWHO-ICD ClassificationMode of Inheritance
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5253700 Sarcoglycan, GammaDiseases of the nervous systemAutosomal, Recessive
Citrullinemia, Classic215700 Argininosuccinate Synthetase 1Endocrine, nutritional and metabolic diseasesAutosomal, Recessive
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation603133 Congenital malformations, deformations and chromosomal abnormalitiesAutosomal, Recessive
Body Mass Index Quantitative Trait Locus 20618406 Melanocortin 4 ReceptorEndocrine, nutritional and metabolic diseasesAutosomal, Recessive, Dominant
Spinal Muscular Atrophy, Distal, Autosomal Recessive607088 Vaccinia-Related Kinase 1Diseases of the nervous systemAutosomal, Recessive
NameOMIM NumberRelated Disease RecordNCBI Gene IDProtein NameUniprot ID
Sarcoglycan, Gamma 608896Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 56445Gamma-sarcoglycanQ13326
Argininosuccinate Synthetase 1 603470Citrullinemia, Classic445Argininosuccinate synthaseP00966
Melanocortin 4 Receptor 155541Body Mass Index Quantitative Trait Locus 204160Melanocortin receptor 4P32245
Sphingomyelin Phosphodiesterase 1, Acid Lysosomal 607608Niemann-Pick Disease, Type A; Niemann-Pick Disease, Type B6609Sphingomyelin phosphodiesteraseP17405
Dihydrolipoamide Branched-Chain Transacylase 248610Maple Syrup Urine Disease1629Dihydrolipoamide Branched-Chain TransacylaseP11182
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