abnormality of the diaphragm Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Any abnormality of the diaphragm. (Human Phenotype Ontology, HP_0000775)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000775
Similar Terms
Downloads & Tools

Genes

71 genes associated with the abnormality of the diaphragm phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AMT aminomethyltransferase
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
B3GAT3 beta-1,3-glucuronyltransferase 3
BAG3 BCL2-associated athanogene 3
CD96 CD96 molecule
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
COL1A1 collagen, type I, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COX7B cytochrome c oxidase subunit VIIb
CPOX coproporphyrinogen oxidase
DACT1 dishevelled-binding antagonist of beta-catenin 1
DHCR7 7-dehydrocholesterol reductase
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DLL3 delta-like 3 (Drosophila)
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EFNB1 ephrin-B1
FBLN5 fibulin 5
GAA glucosidase, alpha; acid
GATA4 GATA binding protein 4
GATA6 GATA binding protein 6
GCSH glycine cleavage system protein H (aminomethyl carrier)
GLDC glycine dehydrogenase (decarboxylating)
GLI3 GLI family zinc finger 3
GPC3 glypican 3
GPC4 glypican 4
HCCS holocytochrome c synthase
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
HES7 hes family bHLH transcription factor 7
HMBS hydroxymethylbilane synthase
HOXD13 homeobox D13
HYLS1 hydrolethalus syndrome 1
IGHMBP2 immunoglobulin mu binding protein 2
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KDM6A lysine (K)-specific demethylase 6A
KIF7 kinesin family member 7
KMT2D lysine (K)-specific methyltransferase 2D
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LRP2 low density lipoprotein receptor-related protein 2
MEGF10 multiple EGF-like-domains 10
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MTM1 myotubularin 1
NELFA negative elongation factor complex member A
NIPBL Nipped-B homolog (Drosophila)
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PORCN porcupine homolog (Drosophila)
RAD21 RAD21 homolog (S. pombe)
RAPSN receptor-associated protein of the synapse
RARB retinoic acid receptor, beta
SH2B1 SH2B adaptor protein 1
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SOX11 SRY (sex determining region Y)-box 11
STRA6 stimulated by retinoic acid 6
TPI1 triosephosphate isomerase 1
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TTN titin
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNT3 wingless-type MMTV integration site family, member 3
WT1 Wilms tumor 1
ZFPM2 zinc finger protein, FOG family member 2