OMIM Links for Protein (Select 50403646) - OMIM - NCBI

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Links from Protein

Items: 1 to 20 of 23

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Select item 6204651.

#620465 - EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEO3

Cytogenetic locations: 607511

OMIM:: 620465

Gene summaries Genetic tests Medical literature

Select item 6173912.

#617391 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 54; DEE54

Cytogenetic locations: 22581936

OMIM:: 617391

Gene summaries Genetic tests Medical literature

Select item 6157443.

#615744 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 19; DEE19

Cytogenetic locations: 32047208

OMIM:: 615744

Gene summaries Genetic tests Medical literature

Select item 6153694.

#615369 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94; DEE94

Cytogenetic locations: 24207121

OMIM:: 615369

Gene summaries Genetic tests Medical literature

Select item 6145585.

#614558 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13; DEE13

Cytogenetic locations: 22365152

OMIM:: 614558

Gene summaries Genetic tests Medical literature

Select item 6137216.

#613721 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11; DEE11

Cytogenetic locations: 610072

OMIM:: 613721

Gene summaries Genetic tests Medical literature

Select item 6134777.

#613477 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5; DEE5

Cytogenetic locations: processed

OMIM:: 613477

Gene summaries Genetic tests Medical literature

Select item 6134438.

#613443 - NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE; NEDHSIL

CHROMOSOME 5q14.3 DELETION SYNDROME, PROXIMAL, INCLUDED

Cytogenetic locations: -

OMIM:: 613443

Gene summaries Genetic tests Medical literature

Select item 6126219.

#612621 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 5; MRD5

Cytogenetic locations: 26989088

OMIM:: 612621

Gene summaries Genetic tests Medical literature

Select item 61216410.

#612164 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4; DEE4

Cytogenetic locations: 35190816

OMIM:: 612164

Gene summaries Genetic tests Medical literature

Select item 61147211.

*611472 - METHYL-CpG-BINDING DOMAIN PROTEIN 5; MBD5

Cytogenetic locations: 608889

OMIM:: 611472

Gene summaries Genetic tests Medical literature

Select item 60833912.

*608339 - SYNTAXIN-BINDING PROTEIN 3; STXBP3

Cytogenetic locations: 10194441

OMIM:: 608339

Gene summaries Genetic tests Medical literature

Select item 60768113.

#607681 - FEBRILE SEIZURES, FAMILIAL, 8; FEB8

EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2, INCLUDED; ECA2, INCLUDED

Cytogenetic locations: 606561

OMIM:: 607681

Gene summaries Genetic tests Medical literature

Select item 60338414.

*603384 - SYNAPTIC RAS-GTPase-ACTIVATING PROTEIN 1; SYNGAP1

Cytogenetic locations: 15014045

OMIM:: 603384

Gene summaries Genetic tests Medical literature

Select item 60292615.

*602926 - SYNTAXIN-BINDING PROTEIN 1; STXBP1

Cytogenetic locations: 11144349

OMIM:: 602926

Gene summaries Genetic tests Medical literature

Select item 60286916.

*602869 - HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN U; HNRNPU

Cytogenetic locations: 19477957

OMIM:: 602869

Gene summaries Genetic tests Medical literature

Select item 60211917.

*602119 - CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 2; CHD2

Cytogenetic locations: 29326634

OMIM:: 602119

Gene summaries Genetic tests Medical literature

Select item 60070218.

*600702 - SODIUM VOLTAGE-GATED CHANNEL, ALPHA SUBUNIT 8; SCN8A

Cytogenetic locations: 16921370

OMIM:: 600702

Gene summaries Genetic tests Medical literature

Select item 18239019.

*182390 - SODIUM VOLTAGE-GATED CHANNEL, ALPHA SUBUNIT 2; SCN2A

Cytogenetic locations: 610072

OMIM:: 182390

Gene summaries Genetic tests Medical literature

Select item 15620020.

#156200 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1; MRD1

CHROMOSOME 2q23.1 DELETION SYNDROME, INCLUDED

Cytogenetic locations: 608889

OMIM:: 156200

Gene summaries Genetic tests Medical literature

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