furrowed tongue Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_11514)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000221
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Genes

28 genes associated with the furrowed tongue phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
AKT1 v-akt murine thymoma viral oncogene homolog 1
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
CC2D2A coiled-coil and C2 domain containing 2A
CEP290 centrosomal protein 290kDa
GJB2 gap junction protein, beta 2, 26kDa
GJB6 gap junction protein, beta 6, 30kDa
IL36RN interleukin 36 receptor antagonist
KDM5C lysine (K)-specific demethylase 5C
KLLN killin, p53-regulated DNA replication inhibitor
MKS1 Meckel syndrome, type 1
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PKP1 plakophilin 1
PTEN phosphatase and tensin homolog
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SLC39A4 solute carrier family 39 (zinc transporter), member 4
TCTN2 tectonic family member 2
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM67 transmembrane protein 67
WDPCP WD repeat containing planar cell polarity effector