There are 180.9 million base pairs on chromosome 5 that make up 923 genes. Chromosome 5 is one of the largest human chromosomes but has a relatively low gene density owing to the significant proportions of noncoding areas of the gene. Sixty-six of the genes are known to be involved in human disease if they are mutated and fourteen diseases are thought to be related to chromosome 5 but have not yet been mapped to specific genes.

Some of the diseases caused by chromosome 5 gene mutations include:

• 3-Methylcrotonyl-CoA carboxylase deficiency
• Achondrogenesis type 1B
• Adult-onset autosomal dominant leukodystrophy
• Atelosteogenesis
• Attention-deficit hyperactivity disorder
• Cockayne syndrome type A
• Corneal dystrophy of Bowman layer
• Cornelia de Lange syndrome
• Cri du Chat syndrome
• D-bifunctional protein deficiency
• Diastrophic dysplasia
• Dilated Cardiomyopathy 1L
• Distal hereditary motor Neuronopathy, type IIC
• Ehlers-Danlos syndrome
• Familial adenomatous polyposis
• GM2-gangliosidosis
• Granular corneal dystrophy type I and type II
• Homocystinuria
• Infantile Parkinsonism-dystonia
• Inflammatory bowel disease
• Major affective disorder
• Megaloblastic anemia due to dihydrofolate reductase deficiency
• Parkinson's disease
• Perrault syndrome
• Primary carnitine deficiency
• Recessive multiple epiphyseal dysplasia
• Sandhoff disease
• Sotos Syndrome
• Spinal muscular atrophy
• Succinyl CoA:3-oxoacid CoA transferase deficiency
• Survival motor neuron spinal muscular atrophy
• Treacher Collins syndrome
• Usher syndrome type II
• Dyskeratosis congenita
• Hereditary lymphedema
• Somatic capillary infantile hemangioma