Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Generalized Thyroid Hormone Resistance
45 34 24 0.52 3 8.3E-02
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 3
8 0 8 0.32 0 0
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
9 19 7 0.26 1 4.3E-02
CUI: C0586553
Disease: Raised TSH level
Raised TSH level
13 0 6 0.19 0 0
CUI: C0342191
Disease: Familial dyshormonogenetic goiter
Familial dyshormonogenetic goiter
11 0 5 0.16 0 0
CUI: C0342200
Disease: Endemic Cretinism
Endemic Cretinism
26 0 7 0.16 0 0
CUI: C0342162
Disease: Compensated hypothyroidism
Compensated hypothyroidism
7 1 4 0.14 1 0.20
CUI: C0271791
Disease: Severe hypothyroidism
Severe hypothyroidism
9 0 4 0.13 0 0
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
35 0 7 0.13 0 0
CUI: C4316995
Disease: Primary Hypothyroidism
Primary Hypothyroidism
19 0 5 0.13 0 0
CUI: C0346303
Disease: Thyrotroph adenoma
Thyrotroph adenoma
11 0 4 0.12 0 0
CUI: C0749420
Disease: Thyroid Agenesis
Thyroid Agenesis
11 0 4 0.12 0 0
CUI: C0700502
Disease: Acquired hypothyroidism
Acquired hypothyroidism
13 0 4 0.12 0 0
CUI: C2932716
Disease: Pseudohypoparathyroidism Type 1C
Pseudohypoparathyroidism Type 1C
4 0 3 0.12 0 0
CUI: C0033835
Disease: Pseudopseudohypoparathyroidism
Pseudopseudohypoparathyroidism
14 0 4 0.11 0 0
Growth Hormone-Producing Pituitary Gland Neoplasm
14 0 4 0.11 0 0
CUI: C1563716
Disease: Thyroid Dysgenesis
Thyroid Dysgenesis
24 0 5 0.11 0 0
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
94 48 12 0.11 1 1.9E-02
Allan-Herndon-Dudley syndrome (AHDS)
5 0 3 0.11 0 0
CUI: C1998045
Disease: Subclinical hyperthyroidism
Subclinical hyperthyroidism
5 0 3 0.11 0 0
CUI: C1848805
Disease: Thyroid Dyshormonogenesis 1
Thyroid Dyshormonogenesis 1
6 0 3 0.11 0 0
CUI: C3715197
Disease: Primary congenital hypothyroidism
Primary congenital hypothyroidism
6 0 3 0.11 0 0
CUI: C0154143
Disease: Toxic multinodular goiter
Toxic multinodular goiter
7 0 3 0.10 0 0
CUI: C0349476
Disease: Congenital goiter
Congenital goiter
7 0 3 0.10 0 0
CUI: C0271790
Disease: Subclinical hypothyroidism
Subclinical hypothyroidism
40 10 6 0.10 1 7.1E-02