Evidence - OMIM - NCBI

Evidence - 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 "Evidence" 

180350 - RHEUMATOID NODULOSIS

OMIM:

 

180350

Gene summaries Genetic tests Medical literature

Select item 1483602.

148360 - KERATODERMA, PALMOPLANTAR, WITH NAIL DYSTROPHY AND HEREDITARY MOTOR-SENSORY NEUROPATHY

OMIM:

 

148360

Gene summaries Genetic tests Medical literature

Select item 1140653.

114065 - CALCIFIC AORTIC DISEASE WITH IMMUNOLOGIC ABNORMALITIES, FAMILIAL

OMIM:

 

114065

Gene summaries Genetic tests Medical literature

Select item 6143734.

#614373 - AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE; ALS16

Cytogenetic locations: 9p13.3

OMIM:

 

614373

Gene summaries Genetic tests Medical literature

Select item 1855605.

*185560 - SURFACE ANTIGEN 8; S8

OMIM:

 

185560

Gene summaries Genetic tests Medical literature

Select item 6149416.

#614941 - ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD11B

Cytogenetic locations: 1q42-q43

OMIM:

 

614941

Gene summaries Genetic tests Medical literature

Select item 6101817.

#610181 - AICARDI-GOUTIERES SYNDROME 2; AGS2

Cytogenetic locations: 13q14.3

OMIM:

 

610181

Gene summaries Genetic tests Medical literature

Select item 6143288.

#614328 - INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1

Cytogenetic locations: 2p25.1

OMIM:

 

614328

Gene summaries Genetic tests Medical literature

Select item 6159079.

#615907 - LYMPHEDEMA, HEREDITARY, ID; LMPH1D

Cytogenetic locations: 4q34.3

OMIM:

 

615907

Gene summaries Genetic tests Medical literature

Select item 20175010.

#201750 - ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS; ABS1

Cytogenetic locations: 7q11.23

OMIM:

 

201750

Gene summaries Genetic tests Medical literature

Select item 55150011.

#551500 - NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA

OMIM:

 

551500

Gene summaries Genetic tests Medical literature

Select item 61743212.

#617432 - MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60; MRT60

Cytogenetic locations: 1p13.3

OMIM:

 

617432

Gene summaries Genetic tests Medical literature

Select item 61561613.

#615616 - ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13; ARVD13

Cytogenetic locations: 10q21.3

OMIM:

 

615616

Gene summaries Genetic tests Medical literature

Select item 61739714.

#617397 - PSEUDO-TORCH SYNDROME 2; PTORCH2

Cytogenetic locations: 22q11.21

OMIM:

 

617397

Gene summaries Genetic tests Medical literature

Select item 60162615.

#601626 - LEUKEMIA, ACUTE MYELOID; AML

LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO, INCLUDED

Cytogenetic locations: 4q12, 1pter-p36.13, 4q12, 1pter-p36.13, 3q27-q28, 1pter-p36.13, 3q25.32, 1pter-p36.13, 3q21.3, 1pter-p36.13, 2p23.3, 1pter-p36.13, 21q22.12, 1pter-p36.13, 19q13.11, 1pter-p36.13, 19p13.3, 1pter-p36.13, 16q22.1, 1pt4q12, 1pter-p36.13, 4q12, 1pter-p36.13, 3q27-q28, 1pter-p36.13, 3q25.32, 1pter-p36.13, 3q21.3, 1pter-p36.13, 2p23.3, 1pter-p36.13, 21q22.12, 1pter-p36.13, 19q13.11, 1pter-p36.13, 19p13.3, 1pter-p36.13, 16q22.1, 1

OMIM:

 

601626

Gene summaries Genetic tests Medical literature

Select item 61740516.

#617405 - SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY; SRTD17

Cytogenetic locations: 3q29

OMIM:

 

617405

Gene summaries Genetic tests Medical literature

Select item 25129017.

#251290 - PSEUDO-TORCH SYNDROME 1; PTORCH1

Cytogenetic locations: 5q13.2

OMIM:

 

251290

Gene summaries Genetic tests Medical literature

Select item 61604018.

#616040 - MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC; CMS7

Cytogenetic locations: 1q32.1

OMIM:

 

616040

Gene summaries Genetic tests Medical literature

Select item 61113119.

#611131 - RETINITIS PIGMENTOSA 37; RP37

Cytogenetic locations: 15q23

OMIM:

 

611131

Gene summaries Genetic tests Medical literature

Select item 61786520.

#617865 - NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES; NEDMAGA

Cytogenetic locations: 5q12.1

OMIM:

 

617865

Gene summaries Genetic tests Medical literature