abnormal schwann cell morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the cells which form the insulating myelin sheaths of peripheral axons (Mammalian Phenotype Ontology, MP_0001106)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001106
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35 gene mutations causing the abnormal schwann cell morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ADAM22 ADAM metallopeptidase domain 22
ADGRG6 adhesion G protein-coupled receptor G6
ARSA arylsulfatase A
BASP1 brain abundant, membrane attached signal protein 1
CHAT choline O-acetyltransferase
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CLDN19 claudin 19
DST dystonin
EGR2 early growth response 2
ERBB2 erb-b2 receptor tyrosine kinase 2
ERBB3 erb-b2 receptor tyrosine kinase 3
GJB1 gap junction protein, beta 1, 32kDa
HSPG2 heparan sulfate proteoglycan 2
IGHMBP2 immunoglobulin mu binding protein 2
IL6ST interleukin 6 signal transducer
L1CAM L1 cell adhesion molecule
LAMA2 laminin, alpha 2
LAMA4 laminin, alpha 4
LAMC1 laminin, gamma 1 (formerly LAMB2)
LARGE like-glycosyltransferase
LGI4 leucine-rich repeat LGI family, member 4
LPAR1 lysophosphatidic acid receptor 1
LPIN1 lipin 1
MAG myelin associated glycoprotein
MPZ myelin protein zero
NGFR nerve growth factor receptor
NRG1 neuregulin 1
PMP22 peripheral myelin protein 22
POU3F1 POU class 3 homeobox 1
PRX periaxin
PSAP prosaposin
SCARB2 scavenger receptor class B, member 2
SERPINE2 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2
SOX10 SRY (sex determining region Y)-box 10