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Search Results for - ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME

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ID
 
Description
 
Product
 
Source
(Showing Items: 50)
 
 
 
 
ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAA | AAAS GENE; AAAS
 
Fibroblast
 
Muscle, Unspecified
 
 
 
 
ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; AAMR | GDP-MANNOSE PYROPHOSPHORYLASE A; GMPPA
 
Fibroblast
 
Skin, Hip
 
 
 
 
ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; AAMR | GDP-MANNOSE PYROPHOSPHORYLASE A; GMPPA
 
LCL
 
B-Lymphocyte
 
 
 
 
ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; AAMR | GDP-MANNOSE PYROPHOSPHORYLASE A; GMPPA
 
LCL
 
B-Lymphocyte
 
 
 
 
ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; AAMR | GDP-MANNOSE PYROPHOSPHORYLASE A; GMPPA
 
Fibroblast
 
Skin, Skin
 
 
 
 
ALACRIMA, ACHALASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; AAMR | GDP-MANNOSE PYROPHOSPHORYLASE A; GMPPA
 
Fibroblast
 
Skin, Skin
 
 
 
 
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG | EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5; ERCC5
 
Fibroblast
 
 
 
 
 
LEIGH SYNDROME; LS | MARFAN SYNDROME; MFS | SURFEIT 1; SURF1 | FIBRILLIN 1; FBN1
 
Fibroblast
 
Skin, Skin
 
 
 
 
LEIGH SYNDROME; LS | MARFAN SYNDROME; MFS | SURFEIT 1; SURF1 | FIBRILLIN 1; FBN1
 
DNA
 
Fibroblast
 
 
 
 
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
 
Fibroblast
 
 
 
 
 
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
 
Fibroblast
 
 
 
 
 
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG | EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5; ERCC5
 
Fibroblast
 
 
 
 
 
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
 
LCL
 
B-Lymphocyte
 
 
 
 
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
 
LCL
 
B-Lymphocyte
 
 
 
 
MUCOLIPIDOSIS II; ML2; ML II | N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS; GNPTAB
 
Fibroblast
 
 
 
 
 
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD
 
LCL
 
B-Lymphocyte
 
 
 
 
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
 
LCL
 
B-Lymphocyte
 
 
 
 
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
 
Fibroblast
 
Skin, Unspecified
 
 
 
 
ALBINISM, OCULOCUTANEOUS, TYPE 1A; OCA1A | TYROSINASE; TYR
 
LCL
 
B-Lymphocyte
 
 
 
 
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
 
Fibroblast
 
 
 
 
 
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
 
LCL
 
B-Lymphocyte
 
 
 
 
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
 
Fibroblast
 
 
 
 
 
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
 
LCL
 
B-Lymphocyte
 
 
 
 
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
 
Fibroblast
 
 
 
 
 
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
 
Fibroblast
 
 
 
 
 
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
 
LCL
 
B-Lymphocyte
 
 
 
 
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
 
Fibroblast
 
 
 
 
 
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
 
Fibroblast
 
 
 
 
 
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 | INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE-COMPLEX ASSOCIATED PROTEIN; IKBKAP
 
DNA
 
LCL
 
 
 
 
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 | INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE-COMPLEX ASSOCIATED PROTEIN; IKBKAP
 
DNA
 
LCL
 
 
 
 
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 | INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE-COMPLEX ASSOCIATED PROTEIN; IKBKAP
 
DNA
 
LCL
 
 
 
 
ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD | ACYL-COA DEHYDROGENASE, MEDIUM-CHAIN; ACADM
 
Fibroblast
 
 
 
 
 
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 | INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE-COMPLEX ASSOCIATED PROTEIN; IKBKAP
 
LCL
 
B-Lymphocyte
 
 
 
 
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 | INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE-COMPLEX ASSOCIATED PROTEIN; IKBKAP | ASPARTOACYLASE; ASPA
 
DNA
 
LCL
 
 
 
 
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 | INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE-COMPLEX ASSOCIATED PROTEIN; IKBKAP
 
DNA
 
LCL
 
 
 
 
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 | HIRSCHSPRUNG DISEASE | INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE-COMPLEX ASSOCIATED PROTEIN; IKBKAP
 
DNA
 
LCL
 
 
 
 
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 | INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE-COMPLEX ASSOCIATED PROTEIN; IKBKAP
 
DNA
 
LCL
 
 
 
 
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 | INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE-COMPLEX ASSOCIATED PROTEIN; IKBKAP
 
DNA
 
LCL
 
 
 
 
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 | INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE-COMPLEX ASSOCIATED PROTEIN; IKBKAP | MONOZYGOTIC TWIN PAIRS
 
LCL
 
B-Lymphocyte
 
 
 
 
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 | INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE-COMPLEX ASSOCIATED PROTEIN; IKBKAP
 
LCL
 
B-Lymphocyte
 
 
 
 
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 | INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE-COMPLEX ASSOCIATED PROTEIN; IKBKAP | MONOZYGOTIC TWIN PAIRS
 
LCL
 
B-Lymphocyte
 
 
 
 
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 | INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE-COMPLEX ASSOCIATED PROTEIN; IKBKAP
 
LCL
 
B-Lymphocyte
 
 
 
 
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 | INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE-COMPLEX ASSOCIATED PROTEIN; IKBKAP | ASPARTOACYLASE; ASPA
 
LCL
 
B-Lymphocyte
 
 
 
 
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 | INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE-COMPLEX ASSOCIATED PROTEIN; IKBKAP
 
LCL
 
B-Lymphocyte
 
 
 
 
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 | INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE-COMPLEX ASSOCIATED PROTEIN; IKBKAP
 
LCL
 
B-Lymphocyte
 
 
 
 
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 | INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE-COMPLEX ASSOCIATED PROTEIN; IKBKAP | ASPARTOACYLASE; ASPA
 
DNA
 
Fibroblast
 
 
 
 
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 | INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE-COMPLEX ASSOCIATED PROTEIN; IKBKAP
 
LCL
 
B-Lymphocyte
 
 
 
 
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 | HIRSCHSPRUNG DISEASE | INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE-COMPLEX ASSOCIATED PROTEIN; IKBKAP
 
LCL
 
B-Lymphocyte
 
 
 
 
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 | INHIBITOR OF KAPPA LIGHT POLYPEPTIDE GENE ENHANCER IN B CELLS, KINASE-COMPLEX ASSOCIATED PROTEIN; IKBKAP
 
LCL
 
B-Lymphocyte
 
 
 
 
CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG | N-GLYCANASE 1; NGLY1 | HEPATOCELLULAR CARCINOMA
 
LCL
 
B-Lymphocyte

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