Genetic testing - OMIM - NCBI

Genetic testing - OMIM - NCBI



From NIH OMIM

OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily.

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• Search OMIM for "Genetic testing" 

#274800 - THYROID DYSHORMONOGENESIS 4; TDH4

Cytogenetic locations: 6q25.1

OMIM:

 

274800

Gene summaries Genetic tests Medical literature

Select item 6018872.

#601887 - MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5

Cytogenetic locations: 1q32.1

OMIM:

 

601887

Gene summaries Genetic tests Medical literature

Select item 6162873.

#616287 - LETHAL CONGENITAL CONTRACTURE SYNDROME 8; LCCS8

Cytogenetic locations: 12q13.12

OMIM:

 

616287

Gene summaries Genetic tests Medical literature

Select item 6162474.

#616247 - LONG QT SYNDROME 14; LQT14

Cytogenetic locations: 14q32.11

OMIM:

 

616247

Gene summaries Genetic tests Medical literature

Select item 1691505.

#169150 - MACULAR DYSTROPHY, PATTERNED, 1; MDPT1

Cytogenetic locations: 6p21.1

OMIM:

 

169150

Gene summaries Genetic tests Medical literature

Select item 6103566.

#610356 - RETINAL CONE DYSTROPHY 3B; RCD3B

Cytogenetic locations: 9p24.2

OMIM:

 

610356

Gene summaries Genetic tests Medical literature

Select item 2787807.

#278780 - XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG

XERODERMA PIGMENTOSUM, TYPE G/COCKAYNE SYNDROME, INCLUDED; XPG/CS, INCLUDED

Cytogenetic locations: 13q33.1

OMIM:

 

278780

Gene summaries Genetic tests Medical literature

Select item 2328008.

#232800 - GLYCOGEN STORAGE DISEASE VII; GSD7

Cytogenetic locations: 12q13.11

OMIM:

 

232800

Gene summaries Genetic tests Medical literature

Select item 6144509.

#614450 - HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6

Cytogenetic locations: 17q21.1

OMIM:

 

614450

Gene summaries Genetic tests Medical literature

Select item 61517910.

#615179 - ALBINISM, OCULOCUTANEOUS, TYPE VII; OCA7

Cytogenetic locations: 10q22.2-q22.3

OMIM:

 

615179

Gene summaries Genetic tests Medical literature

Select item 61038111.

#610381 - CONE-ROD DYSTROPHY 11; CORD11

Cytogenetic locations: 19p13.3

OMIM:

 

610381

Gene summaries Genetic tests Medical literature

Select item 16289012.

*162890 - NEUTROPHIL-SPECIFIC ANTIGEN: NE1

OMIM:

 

162890

Gene summaries Genetic tests Medical literature

Select item 60165313.

*601653 - EYES ABSENT 1; EYA1

Cytogenetic locations: 8q13.3

OMIM:

 

601653

Gene summaries Genetic tests Medical literature

Select item 12101114.

*121011 - GAP JUNCTION PROTEIN, BETA-2; GJB2

Cytogenetic locations: 13q12.11

OMIM:

 

121011

Gene summaries Genetic tests Medical literature

Select item 60101115.

*601011 - CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT; CACNA1A

CACNA1A C-TERMINAL POLYPEPTIDE, INCLUDED

Cytogenetic locations: 19p13.13

OMIM:

 

601011

Gene summaries Genetic tests Medical literature

Select item 60754216.

*607542 - POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1

Cytogenetic locations: 11p15.5-p15.4

OMIM:

 

607542

Gene summaries Genetic tests Medical literature

Select item 60755417.

#607554 - ATRIAL FIBRILLATION, FAMILIAL, 3; ATFB3

Cytogenetic locations: 11p15.5-p15.4

OMIM:

 

607554

Gene summaries Genetic tests Medical literature

Select item 11820018.

#118200 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B

Cytogenetic locations: 1q23.3

OMIM:

 

118200

Gene summaries Genetic tests Medical literature

Select item 11822019.

#118220 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A

Cytogenetic locations: 17p12

OMIM:

 

118220

Gene summaries Genetic tests Medical literature

Select item 18150020.

#181500 - SCHIZOPHRENIA; SCZD

Cytogenetic locations: 1pter-p36.13, 22q12.3, 1pter-p36.13, 22q11.21, 1pter-p36.13, 22q11.21, 1pter-p36.13, 1q32.1, 1pter-p36.13, 18p, 1pter-p36.13, 1p36.2, 1pter-p36.13, 14q32.33, 1pter-p36.13, 13q33.2, 1pter-p36.13, 13q32, 1pter-p36.13, 13q14.1pter-p36.13, 22q12.3, 1pter-p36.13, 22q11.21, 1pter-p36.13, 22q11.21, 1pter-p36.13, 1q32.1, 1pter-p36.13, 18p, 1pter-p36.13, 1p36.2, 1pter-p36.13, 14q32.33, 1pter-p36.13, 13q33.2, 1pter-p36.13, 13q32, 1pter-p36.13, 13q1

OMIM:

 

181500

Gene summaries Genetic tests Medical literature