TBX3, T-box transcription factor 3, 6926

N. diseases: 179; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857206
Disease: Sparse lateral eyebrow
Sparse lateral eyebrow 		0.100 Biomarker phenotype HPO
CUI: C1858539
Disease: Shawl scrotum
Shawl scrotum 		0.100 Biomarker phenotype HPO
CUI: C1858574
Disease: Sparse axillary hair
Sparse axillary hair 		0.100 Biomarker phenotype HPO
CUI: C1859392
Disease: Absent axillary hair
Absent axillary hair 		0.100 Biomarker phenotype HPO
CUI: C1859775
Disease: Anterior pituitary hypoplasia
Anterior pituitary hypoplasia 		0.100 Biomarker phenotype HPO
CUI: C1860614
Disease: ULNAR HYPOPLASIA
ULNAR HYPOPLASIA 		0.100 Biomarker phenotype HPO
CUI: C1862083
Disease: Short 4th toe
Short 4th toe 		0.100 Biomarker phenotype HPO
CUI: C1865571
Disease: Aplasia/Hypoplasia of the ulna
Aplasia/Hypoplasia of the ulna 		0.100 Biomarker phenotype HPO
CUI: C1867003
Disease: Axillary apocrine gland hypoplasia
Axillary apocrine gland hypoplasia 		0.100 Biomarker phenotype HPO
CUI: C2678397
Disease: Aplasia of the ulna
Aplasia of the ulna 		0.100 Biomarker phenotype HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C3279571
Disease: Ectopic posterior pituitary
Ectopic posterior pituitary 		0.100 Biomarker phenotype HPO
CUI: C4021111
Disease: Short 5th toe
Short 5th toe 		0.100 Biomarker disease HPO
CUI: C4021742
Disease: Abnormality of the humerus
Abnormality of the humerus 		0.100 Biomarker disease HPO
CUI: C4021744
Disease: Abnormality of the wrist
Abnormality of the wrist 		0.100 Biomarker disease HPO
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		0.100 Biomarker disease HPO
CUI: C4021792
Disease: Abnormality of the clavicle
Abnormality of the clavicle 		0.100 Biomarker disease HPO
CUI: C4024213
Disease: Aplasia of the pectoralis major muscle
Aplasia of the pectoralis major muscle 		0.100 Biomarker disease HPO
CUI: C4025467
Disease: Deformed radius
Deformed radius 		0.100 Biomarker disease HPO
CUI: C4025675
Disease: Abnormality of the radius
Abnormality of the radius 		0.100 Biomarker disease HPO
CUI: C4551936
Disease: Anal Stenosis, CTCAE
Anal Stenosis, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		1.000 GeneticVariation disease BEFREE We demonstrate that mutations in human TBX3, a member of the T-box gene family, cause ulnar-mammary syndrome in two families. 9207801 1997
CUI: C1866994
Disease: Ulnar-mammary syndrome
Ulnar-mammary syndrome 		1.000 Biomarker disease CTD_human We demonstrate that mutations in human TBX3, a member of the T-box gene family, cause ulnar-mammary syndrome in two families. 9207801 1997
CUI: C0206762
Disease: Limb Deformities, Congenital
Limb Deformities, Congenital 		0.330 Biomarker group CTD_human Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. 9207801 1997
CUI: C0040427
Disease: Tooth Abnormalities
Tooth Abnormalities 		0.300 Biomarker group CTD_human Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. 9207801 1997