Table 4 Phenotypes in mouse models as sourced from the HMDC database associated with novel loci that mapped to a single gene.

From: Deep learning based phenotyping of medical images improves power for gene discovery of complex disease

Gene

Mouse phenotype

Human disease

CREB5

Mortality, aging

None

TEAD1

Adipose tissue cardiovascular system craniofacial embryo growth, size, body homeostasis, metabolism mortality, aging muscle nervous system skeleton vision, eye

Sveinsson chorioretinal atrophy

UST

Behavior, neurological mortality, aging

None

CCDC91

None

None

COL27A1

Cardiovascular system craniofacial embryo growth, size, body hematopoietic system homeostasis, metabolism immune system limbs, digits, tail mortality, aging renal, urinary system reproductive system respiratory system skeleton

None

TBX4

Cardiovascular system, cellular embryo growth, size, body homeostasis, metabolism limbs, digits, tail mortality, aging skeleton

Arthropathy ischiocoxopodopatellar syndrome

MKX

Limbs, digits, tail muscle skeleton

None

  1. In addition to associated mouse phenotypes, the third column of the table lists human diseases associated with each gene as obtained from OMIM.
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