OMIM for BioSystems (Select 153910) - OMIM - NCBI

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Select item 6206741.

#620674 - NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT; SCN11

OMIM:: 620674

Gene summaries Genetic tests Medical literature

Select item 6206702.

#620670 - IMMUNODEFICIENCY, COMMON VARIABLE, 15; CVID15

OMIM:: 620670

Gene summaries Genetic tests Medical literature

Select item 6204753.

#620475 - THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY; THC8

Cytogenetic locations: 0a####

OMIM:: 620475

Gene summaries Genetic tests Medical literature

Select item 6204654.

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

OMIM:: 620465

Gene summaries Genetic tests Medical literature

Select item 6199715.

#619971 - NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY; NEDEBA

Cytogenetic locations: 0#####

OMIM:: 619971

Gene summaries Genetic tests Medical literature

Select item 6199706.

#619970 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 104; DEE104

Cytogenetic locations: 0#8###

OMIM:: 619970

Gene summaries Genetic tests Medical literature

Select item 6199187.

*619918 - TUBULIN, ALPHA-3E; TUBA3E

Cytogenetic locations: 618082

OMIM:: 619918

Gene summaries Genetic tests Medical literature

Select item 6198408.

#619840 - MACROTHROMBOCYTOPENIA, ISOLATED, 2, AUTOSOMAL DOMINANT; MACTHC2

Cytogenetic locations: 0#K###

OMIM:: 619840

Gene summaries Genetic tests Medical literature

Select item 6196119.

#619611 - INTERSTITIAL LUNG DISEASE 1; ILD1

Cytogenetic locations: @M####

OMIM:: 619611

Gene summaries Genetic tests Medical literature

Select item 61927110.

#619271 - BLEEDING DISORDER, PLATELET-TYPE, 24; BDPLT24

Cytogenetic locations: 113705

OMIM:: 619271

Gene summaries Genetic tests Medical literature

Select item 61926711.

#619267 - GLANZMANN THROMBASTHENIA 2; GT2

Cytogenetic locations: 113705

OMIM:: 619267

Gene summaries Genetic tests Medical literature

Select item 61916112.

#619161 - CARPAL TUNNEL SYNDROME 2; CTS2

Cytogenetic locations: pZ#L##

OMIM:: 619161

Gene summaries Genetic tests Medical literature

Select item 61849213.

#618492 - NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES; NEDMIBA

Cytogenetic locations: p#e<##

OMIM:: 618492

Gene summaries Genetic tests Medical literature

Select item 61827114.

*618271 - SEC61 TRANSLOCON, ALPHA-2 SUBUNIT; SEC61A2

Cytogenetic locations: associated

OMIM:: 618271

Gene summaries Genetic tests Medical literature

Select item 61807215.

*618072 - ATPase, H+ TRANSPORTING, LYSOSOMAL, 38-KD, V0 SUBUNIT D, ISOFORM 2; ATP6V0D2

OMIM:: 618072

Gene summaries Genetic tests Medical literature

Select item 61807116.

*618071 - ATPase, H+ TRANSPORTING, LYSOSOMAL, 13-KD, V1 SUBUNIT G, ISOFORM 3; ATP6V1G3

OMIM:: 618071

Gene summaries Genetic tests Medical literature

Select item 61807017.

*618070 - ATPase, H+ TRANSPORTING, LYSOSOMAL, 42-KD, V1 SUBUNIT C, ISOFORM 2; ATP6V1C2

Cytogenetic locations: 609009

OMIM:: 618070

Gene summaries Genetic tests Medical literature

Select item 61801218.

#618012 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93; DEE93

Cytogenetic locations: -

OMIM:: 618012

Gene summaries Genetic tests Medical literature

Select item 61792819.

#617928 - KERATOCONUS 9; KTCN9

Cytogenetic locations: p#D###

OMIM:: 617928

Gene summaries Genetic tests Medical literature

Select item 61787920.

#617879 - LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS; LCAEOD

OMIM:: 617879

Gene summaries Genetic tests Medical literature

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