From: De novo variants in exomes of congenital heart disease patients identify risk genes and pathways
Gene ID | Gene name | Type |
---|---|---|
APBB1 | Amyloid beta precursor protein binding family B member 1 | Transcription regulator |
BOD1L1 | Biorientation of chromosomes in cell division 1 like 1 | Other |
BRD4 | Bromodomain containing 4 | Kinase |
CABIN1 | Calcineurin binding protein 1 | Other |
CAD | Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | Enzyme |
CDK13 | Cyclin dependent kinase 13 | Kinase |
CHD4 | Chromodomain helicase DNA binding protein 4 | Enzyme |
CTR9 | CTR9 homolog, Paf1/RNA polymerase II complex component | Other |
GANAB | Glucosidase II alpha subunit | Enzyme |
HSP90AA1 | Heat shock protein 90 alpha family class A member 1 | Enzyme |
IQGAP1 | IQ motif containing GTPase activating protein 1 | Other |
KDM5A | Lysine demethylase 5A | Transcription regulator |
LAMB1 | Laminin subunit beta 1 | Other |
LAMC1 | Laminin subunit gamma 1 | Other |
MINK1 | Misshapen like kinase 1 | Kinase |
NAA15 | N (alpha)-Acetyltransferase 15, NatA auxiliary subunit | Transcription regulator |
PHIP | Pleckstrin homology domain interacting protein | Other |
POGZ | Pogo transposable element derived with ZNF domain | Enzyme |
PYGL | Glycogen phosphorylase L | Enzyme |
RACGAP1 | Rac GTPase activating protein 1 | Transporter |
ROCK2 | Rho-associated coiled-coil containing protein kinase 2 | Kinase |
TJP2 | Tight junction protein 2 | Kinase |
USP4 | Ubiquitin specific peptidase 4 | Peptidase |