OMIM for BioSystems (Select 1269961) - OMIM - NCBI

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Links from BioSystems

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Select item 6198641.

#619864 - LEUKODYSTROPHY, CHILDHOOD-ONSET, REMITTING; CORLK

OMIM:: 619864

Gene summaries Genetic tests Medical literature

Select item 6191432.

#619143 - CARDIOACROFACIAL DYSPLASIA 2; CAFD2

Cytogenetic locations: `#####

OMIM:: 619143

Gene summaries Genetic tests Medical literature

Select item 6191423.

#619142 - CARDIOACROFACIAL DYSPLASIA 1; CAFD1

Cytogenetic locations: PwU###

OMIM:: 619142

Gene summaries Genetic tests Medical literature

Select item 6189724.

#618972 - MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19

OMIM:: 618972

Gene summaries Genetic tests Medical literature

Select item 6189595.

#618959 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88

Cytogenetic locations: ##1M##

OMIM:: 618959

Gene summaries Genetic tests Medical literature

Select item 6187216.

#618721 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82

Cytogenetic locations: 605956

OMIM:: 618721

Gene summaries Genetic tests Medical literature

Select item 6184647.

#618464 - PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 6; PPGL6

Cytogenetic locations: 615850

OMIM:: 618464

Gene summaries Genetic tests Medical literature

Select item 6181978.

#618197 - MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC; CMS23

OMIM:: 618197

Gene summaries Genetic tests Medical literature

Select item 6173399.

#617339 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51; DEE51

Cytogenetic locations: #rU###

OMIM:: 617339

Gene summaries Genetic tests Medical literature

Select item 61617610.

#616176 - BLEEDING DISORDER, PLATELET-TYPE, 19; BDPLT19

Cytogenetic locations: 605731

OMIM:: 616176

Gene summaries Genetic tests Medical literature

Select item 61583011.

#615830 - PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4; PPNAD4

ACTH-INDEPENDENT ADRENAL CUSHING SYNDROME, SOMATIC, INCLUDED

Cytogenetic locations: 1p36, 602272

OMIM:: 615830

Gene summaries Genetic tests Medical literature

Select item 61551212.

#615512 - TRIOSEPHOSPHATE ISOMERASE DEFICIENCY; TPID

Cytogenetic locations: 12p13.33

OMIM:: 615512

Gene summaries Genetic tests Medical literature

Select item 61518213.

#615182 - COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA; D2L2AD

Cytogenetic locations: ##y###

OMIM:: 615182

Gene summaries Genetic tests Medical literature

Select item 61441914.

#614419 - ASPARTATE AMINOTRANSFERASE, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1

Cytogenetic locations: 601130

OMIM:: 614419

Gene summaries Genetic tests Medical literature

Select item 61416815.

*614168 - PHOSPHOENOLPYRUVATE CARBOXYKINASE 1, SOLUBLE; PCK1

OMIM:: 614168

Gene summaries Genetic tests Medical literature

Select item 61409516.

*614095 - PHOSPHOENOLPYRUVATE CARBOXYKINASE 2, MITOCHONDRIAL; PCK2

OMIM:: 614095

Gene summaries Genetic tests Medical literature

Select item 61347017.

#613470 - HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY

OMIM:: 613470

Gene summaries Genetic tests Medical literature

Select item 61294918.

#612949 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 WITH LEUKODYSTROPHY; DEE39

OMIM:: 612949

Gene summaries Genetic tests Medical literature

Select item 61293219.

#612932 - GLYCOGEN STORAGE DISEASE XIII; GSD13

Cytogenetic locations: RNA

OMIM:: 612932

Gene summaries Genetic tests Medical literature

Select item 61293120.

*612931 - PHOSPHOGLYCERATE MUTASE 2; PGAM2

OMIM:: 612931

Gene summaries Genetic tests Medical literature

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