conservative treatment - OMIM

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Select item 2616001.

#261600 - PHENYLKETONURIA; PKU

HYPERPHENYLALANINEMIA, NON-PKU MILD, INCLUDED

Cytogenetic locations: associated

OMIM:: 261600

Gene summaries Genetic tests Medical literature

Select item 6097082.

*609708 - LIPOPROTEIN LIPASE; LPL

Cytogenetic locations: 16460682

OMIM:: 609708

Gene summaries Genetic tests Medical literature

Select item 1380403.

*138040 - NUCLEAR RECEPTOR SUBFAMILY 3, GROUP C, MEMBER 1; NR3C1

Cytogenetic locations: 23748442

OMIM:: 138040

Gene summaries Genetic tests Medical literature

Select item 6123494.

*612349 - PHENYLALANINE HYDROXYLASE; PAH

Cytogenetic locations: 11671770

OMIM:: 612349

Gene summaries Genetic tests Medical literature

Select item 1209005.

*120900 - COMPLEMENT COMPONENT 5; C5

Cytogenetic locations: 10333435

OMIM:: 120900

Gene summaries Genetic tests Medical literature

Select item 1911706.

*191170 - TUMOR PROTEIN p53; TP53

Cytogenetic locations: 27997263

OMIM:: 191170

Gene summaries Genetic tests Medical literature

Select item 2121407.

#212140 - CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP

Cytogenetic locations: 601507

OMIM:: 212140

Gene summaries Genetic tests Medical literature

Select item 6081158.

#608115 - OVARIAN HYPERSTIMULATION SYNDROME; OHSS

Cytogenetic locations: 604594

OMIM:: 608115

Gene summaries Genetic tests Medical literature

Select item 1684509.

*168450 - PARATHYROID HORMONE; PTH

Cytogenetic locations: 19108031

OMIM:: 168450

Gene summaries Genetic tests Medical literature

Select item 24860010.

#248600 - MAPLE SYRUP URINE DISEASE, TYPE IA; MSUD1A

Cytogenetic locations: 610749, 610749, 1p36

OMIM:: 248600

Gene summaries Genetic tests Medical literature

Select item 61648311.

#616483 - INFANTILE LIVER FAILURE SYNDROME 2; ILFS2

Cytogenetic locations: 30558828

OMIM:: 616483

Gene summaries Genetic tests Medical literature

Select item 15470012.

#154700 - MARFAN SYNDROME; MFS

Cytogenetic locations: 208500

OMIM:: 154700

Gene summaries Genetic tests Medical literature

Select item 61864113.

#618641 - INFANTILE LIVER FAILURE SYNDROME 3; ILFS3

Cytogenetic locations: 31204009

OMIM:: 618641

Gene summaries Genetic tests Medical literature

Select item 16090014.

#160900 - MYOTONIC DYSTROPHY 1; DM1

Cytogenetic locations: 15103717

OMIM:: 160900

Gene summaries Genetic tests Medical literature

Select item 60296315.

*602963 - UBIQUITIN-CONJUGATING ENZYME E2 D3; UBE2D3

Cytogenetic locations: 20185725

OMIM:: 602963

Gene summaries Genetic tests Medical literature

Select item 60219316.

*602193 - SOLUTE CARRIER FAMILY 29 (NUCLEOSIDE TRANSPORTER), MEMBER 1; SLC29A1

Cytogenetic locations: -

OMIM:: 602193

Gene summaries Genetic tests Medical literature

Select item 60823817.

*608238 - SIGNAL PEPTIDE PEPTIDASE-LIKE 2A; SPPL2A

Cytogenetic locations: 30127434

OMIM:: 608238

Gene summaries Genetic tests Medical literature

Select item 60230318.

*602303 - LYSINE ACETYLTRANSFERASE 2B; KAT2B

Cytogenetic locations: 610403

OMIM:: 602303

Gene summaries Genetic tests Medical literature

Select item 30150019.

#301500 - FABRY DISEASE

FABRY DISEASE, CARDIAC VARIANT, INCLUDED

Cytogenetic locations: 14007664

OMIM:: 301500

Gene summaries Genetic tests Medical literature

Select item 30090720.

*300907 - CLEAVAGE STIMULATION FACTOR, 3-PRIME PRE-RNA, SUBUNIT 2, 64-KD; CSTF2

Cytogenetic locations: 314375

OMIM:: 300907

Gene summaries Genetic tests Medical literature

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