Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 81027
Gene Symbol: TUBB1
TUBB1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 4158
Gene Symbol: MC2R
MC2R 		0.100 Biomarker disease HPO
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		0.100 Biomarker disease HPO
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A 		0.100 Biomarker disease HPO
Entrez Id: 5144
Gene Symbol: PDE4D
PDE4D 		0.100 Biomarker disease HPO
Entrez Id: 6770
Gene Symbol: STAR
STAR 		0.100 Biomarker disease HPO
Entrez Id: 2782
Gene Symbol: GNB1
GNB1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 7067
Gene Symbol: THRA
THRA 		0.100 Biomarker disease HPO
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24 		0.100 Biomarker disease HPO
Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT 		0.100 Biomarker disease HPO
Entrez Id: 83696
Gene Symbol: TRAPPC9
TRAPPC9 		0.100 Biomarker disease HPO
Entrez Id: 7173
Gene Symbol: TPO
TPO 		0.900 Biomarker disease BEFREE Congenital goitre and hypothyroidism with impaired iodide organification and high thyroid peroxidase concentration. 487612 1979
Entrez Id: 7200
Gene Symbol: TRH
TRH 		0.010 Biomarker disease BEFREE Other causes of cretinism include failure of the thyroid gland to respond to TSH and lack of pituitary TSH (or hypothalamic TRH). 782770 1976
Entrez Id: 7173
Gene Symbol: TPO
TPO 		0.900 GeneticVariation disease BEFREE Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter. 1401057 1992
Entrez Id: 3479
Gene Symbol: IGF1
IGF1 		0.200 Biomarker disease RGD The effects of thyroid hormone on insulin-like growth factor (IGF) and IGF-binding protein (IGFBP) expression in the neonatal rat: prolonged high expression of IGFBP-2 in methimazole-induced congenital hypothyroidism. 1718729 1991
Entrez Id: 7038
Gene Symbol: TG
TG 		0.600 Biomarker disease BEFREE Hyposialylated thyroglobulin in a patient with congenital goiter and hypothyroidism. 1727828 1992
Entrez Id: 7038
Gene Symbol: TG
TG 		0.600 GeneticVariation disease BEFREE A 3' splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism. 1752952 1991
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.010 GeneticVariation disease BEFREE We report on a male infant with congenital hypothyroidism owing to athyreosis occurring with the CHARGE association (bilateral papillary coloboma, congenital heart disease, dysmorphic ears, sensorineural deafness, psychomotor retardation, cryptorchidism, facial palsy, and vesicoureteral reflux). 2051459 1991
Entrez Id: 7173
Gene Symbol: TPO
TPO 		0.900 AlteredExpression disease BEFREE Differential levels of thyroid peroxidase and thyroglobulin messenger ribonucleic acids in congenital goiter with defective thyroglobulin synthesis. 2096156 1990
Entrez Id: 7038
Gene Symbol: TG
TG 		0.600 AlteredExpression disease BEFREE Differential levels of thyroid peroxidase and thyroglobulin messenger ribonucleic acids in congenital goiter with defective thyroglobulin synthesis. 2096156 1990
Entrez Id: 7038
Gene Symbol: TG
TG 		0.600 GeneticVariation disease BEFREE Qualitative and quantitative defects of thyroglobulin resulting in congenital goiter. Absence of gross gene deletion of coding sequences in the TG gene structure. 2614017 1989
Entrez Id: 7038
Gene Symbol: TG
TG 		0.600 AlteredExpression disease BEFREE Normal level of thyroglobulin messenger ribonucleic acid in a human congenital goiter with thyroglobulin deficiency. 3745406 1986
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R 		0.010 Biomarker disease BEFREE A hereditary abnormal c-fms proto-oncogene in a patient with acute lymphocytic leukaemia and congenital hypothyroidism. 3863666 1985
Entrez Id: 8844
Gene Symbol: KSR1
KSR1 		0.010 GeneticVariation disease BEFREE Neither the locus for the 17-KSR enzyme nor that for congenital hypothyroidism were linked to the histocompatibility leucocyte antigen complex in this sibship. 6574136 1983
Entrez Id: 3105
Gene Symbol: HLA-A
HLA-A 		0.010 GeneticVariation disease BEFREE These findings suggest that the gene for susceptibility to congenital hypothyroidism due to thyroid dysgenesis is closely linked to the gene for the HLA-A locus of the patients' mothers. 6587613 1984