Family health history - OMIM - NCBI

Family health history - 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 "Family health history" 

#500007 - CYCLIC VOMITING SYNDROME; CVS

CYCLIC VOMITING SYNDROME WITH NEUROMUSCULAR DISEASE, INCLUDED

OMIM:

 

500007

Gene summaries Genetic tests Medical literature

Select item 6143382.

#614338 - PANCREATIC LIPASE DEFICIENCY; PNLIPD

PANCREATIC COLIPASE DEFICIENCY, INCLUDED

Cytogenetic locations: 10q25.3

OMIM:

 

614338

Gene summaries Genetic tests Medical literature

Select item 1873003.

#187300 - TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1

Cytogenetic locations: 9q34.11

OMIM:

 

187300

Gene summaries Genetic tests Medical literature

Select item 1427004.

%142700 - DEVELOPMENTAL DYSPLASIA OF THE HIP 1; DDH1

Cytogenetic locations: 13q22

OMIM:

 

142700

Gene summaries Genetic tests Medical literature

Select item 1688205.

+168820 - PARAOXONASE 1; PON1

PON1 ENZYME ACTIVITY, VARIATION IN, INCLUDED

Cytogenetic locations: 7q21.3

OMIM:

 

168820

Gene summaries Genetic tests Medical literature

Select item 1733506.

*173350 - PLASMINOGEN; PLG

ANGIOSTATIN, INCLUDED

Cytogenetic locations: 6q26

OMIM:

 

173350

Gene summaries Genetic tests Medical literature

Select item 1424107.

*142410 - HNF1 HOMEOBOX A; HNF1A

Cytogenetic locations: 12q24.31

OMIM:

 

142410

Gene summaries Genetic tests Medical literature

Select item 1911708.

*191170 - TUMOR PROTEIN p53; TP53

Cytogenetic locations: 17p13.1

OMIM:

 

191170

Gene summaries Genetic tests Medical literature

Select item 6017289.

+601728 - PHOSPHATASE AND TENSIN HOMOLOG; PTEN

PTEN HAMARTOMA TUMOR SYNDROME, INCLUDED; PHTS, INCLUDED

Cytogenetic locations: 10q23.31

OMIM:

 

601728

Gene summaries Genetic tests Medical literature

Select item 15555510.

*155555 - MELANOCORTIN 1 RECEPTOR; MC1R

Cytogenetic locations: 16q24.3

OMIM:

 

155555

Gene summaries Genetic tests Medical literature

Select item 10618011.

+106180 - ANGIOTENSIN I-CONVERTING ENZYME; ACE

ANGIOTENSIN I-CONVERTING ENZYME, PLASMA LEVEL OF, INCLUDED

Cytogenetic locations: 17q23.3

OMIM:

 

106180

Gene summaries Genetic tests Medical literature

Select item 16703012.

#167030 - NEPHROLITHIASIS, CALCIUM OXALATE; CAON

Cytogenetic locations: 4p16.3

OMIM:

 

167030

Gene summaries Genetic tests Medical literature

Select item 30048113.

*300481 - CYTOCHROME b(-245), BETA SUBUNIT; CYBB

Cytogenetic locations: Xp21.1-p11.4

OMIM:

 

300481

Gene summaries Genetic tests Medical literature

Select item 15554114.

*155541 - MELANOCORTIN 4 RECEPTOR; MC4R

Cytogenetic locations: 18q21.32

OMIM:

 

155541

Gene summaries Genetic tests Medical literature

Select item 60016315.

*600163 - SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT; SCN5A

Cytogenetic locations: 3p22.2

OMIM:

 

600163

Gene summaries Genetic tests Medical literature

Select item 17240516.

*172405 - PHOSPHOLAMBAN; PLN

Cytogenetic locations: 6q22.31

OMIM:

 

172405

Gene summaries Genetic tests Medical literature

Select item 20680017.

#206800 - NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4; NDNC4

Cytogenetic locations: 20p13

OMIM:

 

206800

Gene summaries Genetic tests Medical literature

Select item 60055518.

*600555 - SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 1; STAT1

Cytogenetic locations: 2q32.2

OMIM:

 

600555

Gene summaries Genetic tests Medical literature

Select item 12101119.

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

Cytogenetic locations: 13q12.11

OMIM:

 

121011

Gene summaries Genetic tests Medical literature

Select item 31370020.

*313700 - ANDROGEN RECEPTOR; AR

Cytogenetic locations: Xq12

OMIM:

 

313700

Gene summaries Genetic tests Medical literature