Big data - OMIM - NCBI

Big data - 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 "Big data" 

%119100 - SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1; SHFLD1

Cytogenetic locations: 1q42.2-q43

OMIM:

 

119100

Gene summaries Genetic tests Medical literature

Select item 1585902.

#158590 - NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA; HMN2A

Cytogenetic locations: 12q24.23

OMIM:

 

158590

Gene summaries Genetic tests Medical literature

Select item 6146133.

#614613 - ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS2

Cytogenetic locations: 5q11.2-q12.1

OMIM:

 

614613

Gene summaries Genetic tests Medical literature

Select item 1769434.

*176943 - FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2

KERATINOCYTE GROWTH FACTOR RECEPTOR, INCLUDED; KGFR, INCLUDED

Cytogenetic locations: 10q26.13

OMIM:

 

176943

Gene summaries Genetic tests Medical literature

Select item 6138835.

*613883 - KELL BLOOD GROUP METALLOENDOPEPTIDASE; KEL

Cytogenetic locations: 7q34

OMIM:

 

613883

Gene summaries Genetic tests Medical literature

Select item 1652406.

*165240 - GLI-KRUPPEL FAMILY MEMBER 3; GLI3

Cytogenetic locations: 7p14.1

OMIM:

 

165240

Gene summaries Genetic tests Medical literature

Select item 6095157.

609515 - IRIDOGONIODYSGENESIS AND SKELETAL ANOMALIES

OMIM:

 

609515

Gene summaries Genetic tests Medical literature

Select item 1351008.

#135100 - FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP

Cytogenetic locations: 2q24.1

OMIM:

 

135100

Gene summaries Genetic tests Medical literature

Select item 3006249.

#300624 - FRAGILE X SYNDROME; FXS

Cytogenetic locations: Xq27.3

OMIM:

 

300624

Gene summaries Genetic tests Medical literature

Select item 30190010.

#301900 - BORJESON-FORSSMAN-LEHMANN SYNDROME; BFLS

Cytogenetic locations: Xq26.2

OMIM:

 

301900

Gene summaries Genetic tests Medical literature

Select item 30053411.

#300534 - MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE; MRXSCJ

Cytogenetic locations: Xp11.22

OMIM:

 

300534

Gene summaries Genetic tests Medical literature

Select item 22260012.

#222600 - DIASTROPHIC DYSPLASIA; DTD

DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, INCLUDED

Cytogenetic locations: 5q32

OMIM:

 

222600

Gene summaries Genetic tests Medical literature

Select item 16105013.

%161050 - NAIL DISORDER, NONSYNDROMIC CONGENITAL, 1; NDNC1

NAIL GROWTH, INCLUDED

OMIM:

 

161050

Gene summaries Genetic tests Medical literature

Select item 10160014.

#101600 - PFEIFFER SYNDROME

CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED

Cytogenetic locations: 1pter-p36.13, 8p11.23

OMIM:

 

101600

Gene summaries Genetic tests Medical literature

Select item 16240015.

#162400 - NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA; HSAN1A

Cytogenetic locations: 9q22.31

OMIM:

 

162400

Gene summaries Genetic tests Medical literature

Select item 18084916.

#180849 - RUBINSTEIN-TAYBI SYNDROME 1; RSTS1

Cytogenetic locations: 16p13.3

OMIM:

 

180849

Gene summaries Genetic tests Medical literature

Select item 24942017.

#249420 - FRANK-TER HAAR SYNDROME; FTHS

Cytogenetic locations: 5q35.1

OMIM:

 

249420

Gene summaries Genetic tests Medical literature

Select item 23573018.

#235730 - MOWAT-WILSON SYNDROME; MOWS

Cytogenetic locations: 2q22.3

OMIM:

 

235730

Gene summaries Genetic tests Medical literature

Select item 10120019.

#101200 - APERT SYNDROME

APERT-CROUZON DISEASE, INCLUDED

Cytogenetic locations: 10q26.13

OMIM:

 

101200

Gene summaries Genetic tests Medical literature

Select item 24850020.

#248500 - MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Cytogenetic locations: 19p13.13

OMIM:

 

248500

Gene summaries Genetic tests Medical literature