Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Pigment dispersion syndrome (disorder)
18 0 8 0.18 0 0
CUI: C0342162
Disease: Compensated hypothyroidism
Compensated hypothyroidism
7 0 6 0.17 0 0
CUI: C0342191
Disease: Familial dyshormonogenetic goiter
Familial dyshormonogenetic goiter
11 0 6 0.15 0 0
CUI: C1563716
Disease: Thyroid Dysgenesis
Thyroid Dysgenesis
24 0 7 0.13 0 0
CUI: C2940786
Disease: Thyroid Hormone Resistance Syndrome
Thyroid Hormone Resistance Syndrome
25 0 7 0.13 0 0
Generalized Thyroid Hormone Resistance
45 0 9 0.13 0 0
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
10 81 5 0.12 58 0.35
CUI: C0749420
Disease: Thyroid Agenesis
Thyroid Agenesis
11 0 5 0.12 0 0
CUI: C0586553
Disease: Raised TSH level
Raised TSH level
13 0 5 0.12 0 0
CUI: C0265274
Disease: Achondrogenesis, type IB (disorder)
Achondrogenesis, type IB (disorder)
5 0 4 0.11 0 0
CUI: C0271826
Disease: Iodide transport defect
Iodide transport defect
5 0 4 0.11 0 0
CUI: C1848805
Disease: Thyroid Dyshormonogenesis 1
Thyroid Dyshormonogenesis 1
6 0 4 0.11 0 0
CUI: C3715197
Disease: Primary congenital hypothyroidism
Primary congenital hypothyroidism
6 0 4 0.11 0 0
CUI: C0349476
Disease: Congenital goiter
Congenital goiter
7 0 4 0.11 0 0
Auditory neuropathy spectrum disorder
28 0 6 0.11 0 0
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 3
8 0 4 0.10 0 0
CUI: C0271791
Disease: Severe hypothyroidism
Severe hypothyroidism
9 0 4 1.0E-01 0 0
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
9 0 4 1.0E-01 0 0
CUI: C4023190
Disease: Thyroid hemiagenesis
Thyroid hemiagenesis
9 0 4 1.0E-01 0 0
CUI: C0342199
Disease: Iodine deficiency syndrome
Iodine deficiency syndrome
22 0 5 9.6E-02 0 0
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
94 0 11 9.3E-02 0 0
CUI: C0700502
Disease: Acquired hypothyroidism
Acquired hypothyroidism
13 0 4 9.1E-02 0 0
CUI: C0342200
Disease: Endemic Cretinism
Endemic Cretinism
26 0 5 8.9E-02 0 0
CUI: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia
14 0 4 8.9E-02 0 0
CUI: C0456132
Disease: Large fontanelle
Large fontanelle
77 0 9 8.7E-02 0 0