Trait

Bipolar disorder

Clinical name: Bipolar affective disorder

Bipolar disorder is an illness of mood characterized by alternating episodes of elevated and depressed moods, which are interspersed with euthymic periods.

HPO HP:0007302

Also called: Bipolar depression, Manic depressive
Body system: Abnormality of the nervous system

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46 genes linked to Bipolar disorder

Changes in these genes cause rare conditions in which Bipolar disorder is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

Gene	How often it is seen	Conditions
MECP2methyl-CpG binding protein 2	Often (30–79%)	In 1 condition
ARVCFARVCF delta catenin family member	Sometimes (5–29%)	In 1 condition
ATP2A2ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	Sometimes (5–29%)	In 2 conditions
CEP85Lcentrosomal protein 85L	Sometimes (5–29%)	In 1 condition
CHRNA7cholinergic receptor nicotinic alpha 7 subunit	Sometimes (5–29%)	In 1 condition
CLCN4Cl-/H+ antiporter 4	Sometimes (5–29%)	In 2 conditions
COMTcatechol-O-methyltransferase	Sometimes (5–29%)	In 1 condition
FLI1Fli-1 proto-oncogene, ETS transcription factor	Sometimes (5–29%)	In 1 condition
GP1BBglycoprotein Ib platelet subunit beta	Sometimes (5–29%)	In 1 condition
GRIA1glutamate ionotropic receptor AMPA type subunit 1	Sometimes (5–29%)	In 1 condition
HIRAhistone cell cycle regulator	Sometimes (5–29%)	In 1 condition
JMJD1Cjumonji domain containing 1C	Sometimes (5–29%)	In 1 condition
MT-CO1mitochondrially encoded cytochrome c oxidase I	Sometimes (5–29%)	In 1 condition
MT-CO2mitochondrially encoded cytochrome c oxidase II	Sometimes (5–29%)	In 1 condition
MT-CO3mitochondrially encoded cytochrome c oxidase III	Sometimes (5–29%)	In 1 condition
MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1	Sometimes (5–29%)	In 1 condition
MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4	Sometimes (5–29%)	In 1 condition
MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5	Sometimes (5–29%)	In 1 condition
MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6	Sometimes (5–29%)	In 1 condition
MT-TFmitochondrially encoded tRNA-Phe (UUU/C)	Sometimes (5–29%)	In 1 condition
MT-THmitochondrially encoded tRNA-His (CAU/C)	Sometimes (5–29%)	In 1 condition
MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1	Sometimes (5–29%)	In 1 condition
MT-TQmitochondrially encoded tRNA-Gln (CAA/G)	Sometimes (5–29%)	In 1 condition
MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1	Sometimes (5–29%)	In 1 condition
MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2	Sometimes (5–29%)	In 1 condition
MT-TWmitochondrially encoded tRNA-Trp (UGA/G)	Sometimes (5–29%)	In 1 condition
PDGFRBplatelet derived growth factor receptor beta	Sometimes (5–29%)	In 1 condition
RBM12RNA binding motif protein 12	Sometimes (5–29%)	In 1 condition
RPS6KA3ribosomal protein S6 kinase A3	Sometimes (5–29%)	In 1 condition
RREB1ras responsive element binding protein 1	Sometimes (5–29%)	In 1 condition
RRP12ribosomal RNA processing 12 homolog	Sometimes (5–29%)	In 1 condition
SEC24CSEC24 homolog C, COPII component	Sometimes (5–29%)	In 1 condition
TBX1T-box transcription factor 1	Sometimes (5–29%)	In 2 conditions
UFD1ubiquitin recognition factor in ER associated degradation 1	Sometimes (5–29%)	In 1 condition
VPS16VPS16 core subunit of CORVET and HOPS complexes	Sometimes (5–29%)	In 1 condition
DNMT3ADNA methyltransferase 3 alpha	Rarely (1–4%)	In 1 condition
EHMT1euchromatic histone lysine methyltransferase 1	Rarely (1–4%)	In 1 condition
FA2Hfatty acid 2-hydroxylase	Rarely (1–4%)	In 1 condition
POLGDNA polymerase gamma, catalytic subunit	Rarely (1–4%)	In 1 condition
POLG2DNA polymerase gamma 2, accessory subunit	Rarely (1–4%)	In 1 condition

Show 6 more genes

Gene	How often it is seen	Conditions
RNU4-2RNA, U4 small nuclear 2	Rarely (1–4%)	In 1 condition
RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B	Rarely (1–4%)	In 1 condition
SLC25A4solute carrier family 25 member 4	Rarely (1–4%)	In 1 condition
SMPD1sphingomyelin phosphodiesterase 1	Rarely (1–4%)	In 1 condition
TBCKTBC1 domain containing kinase	Rarely (1–4%)	In 1 condition
TWNKtwinkle mtDNA helicase	Rarely (1–4%)	In 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Broader traits

Diagnostic behavioral phenotype

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
Data release 2026.10.16-c6eea6bf.

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