MCID: CNG006
MIFTS: 62

Congenital Hypothyroidism

Categories: Rare diseases, Endocrine diseases, Immune diseases

Aliases & Classifications for Congenital Hypothyroidism

Summaries for Congenital Hypothyroidism

NIH Rare Diseases : 49 Congenital hypothyroidism is a condition that affects infants from birth and results from a partial or complete loss of thyroid function (hypothyroidism). The thyroid gland makes hormones that play an important role in regulating growth, brain development, and metabolism in the body. Congenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In the United States and many other countries, all newborns are tested for congenital hypothyroidism as part of newborn screening. If untreated, congenital hypothyroidism can lead to intellectual disability and abnormal growth. If treatment begins in the first month after birth, infants usually develop normally. Treatment involves medication to replace the missing thyroid hormones, such as levothyroxine. Most cases of congenital hypothyroidism occur in people with no history of the disorder in their family. About 15-20% of cases are due to an underlying genemutation. Rarely, congenital hypothyroidism can be a symptom included in a larger genetic disorder called a syndrome. Last updated: 2/19/2016

MalaCards based summary : Congenital Hypothyroidism, also known as cretinism, is related to hypothyroidism, congenital, nongoitrous, 2 and pendred syndrome, and has symptoms including hypogonadism, macroglossia and oral cleft. An important gene associated with Congenital Hypothyroidism is TPO (Thyroid Peroxidase), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Allograft rejection. The drugs Hormones and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include thyroid, brain and testes, and related phenotypes are endocrine/exocrine gland and growth/size/body region

Disease Ontology : 12 A hypothyroidism that is present at birth.

Genetics Home Reference : 24 Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid gland is a butterfly-shaped tissue in the lower neck. It makes iodine-containing hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). People with congenital hypothyroidism have lower-than-normal levels of these important hormones.

Wikipedia : 72 Congenital hypothyroidism (CH) is a condition of thyroid hormone deficiency present at birth.... more...

Related Diseases for Congenital Hypothyroidism

Diseases in the Hypothyroidism family:

Congenital Hypothyroidism Central Congenital Hypothyroidism
Hypothyroidism Due to Iodide Transport Defect Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function
Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs Congenital Hypothyroidism Due to Transplacental Passage of Maternal Tsh-Binding Inhibitory Antibodies

Diseases related to Congenital Hypothyroidism via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 197)
# Related Disease Score Top Affiliating Genes
1 hypothyroidism, congenital, nongoitrous, 2 32.3 FOXE1 NKX2-1 PAX8 TG TSHR
2 pendred syndrome 31.8 DUOX2 PAX8 TG TPO
3 neonatal hypothyroidism 31.3 PAX8 SLC5A5 TG TPO TSHR
4 thyroid ectopia 31.0 NKX2-5 PAX8
5 thyroiditis 30.3 TG TPO TSHB TSHR
6 familial thyroid dyshormonogenesis 30.1 DUOX2 IYD SLC5A5 TG TPO
7 myxedema 30.0 TG TPO TSHR
8 hyperthyroxinemia 29.8 TPO TSHR
9 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 29.8 FOXE1 TG TPO
10 hyperthyroidism 29.7 TG TPO TSHR
11 graves' disease 29.6 TG TPO TSHR
12 hypothyroidism, congenital, nongoitrous, 4 29.6 TG TPO TSHB
13 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 29.5 TG TPO TSHR
14 athyreosis 29.4 FOXE1 NKX2-1 NKX2-5 PAX8 TG TSHR
15 multinodular goiter 29.0 NKX2-1 PAX8 TG TPO TSHR
16 papillary carcinoma 29.0 NKX2-1 PAX8 TG TPO TSHR
17 hashimoto thyroiditis 28.7 TG TPO TSHB TSHR
18 goiter 28.5 DUOX2 IYD NKX2-1 PAX8 SLC5A5 TG
19 hypothyroidism 27.3 DUOX2 FOXE1 GLIS3 IYD NKX2-1 NKX2-5
20 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 12.4
21 diabetes mellitus, neonatal, with congenital hypothyroidism 12.3
22 central congenital hypothyroidism 12.3
23 idiopathic congenital hypothyroidism 12.0
24 cretinism athyreotic 11.9
25 genetic transient congenital hypothyroidism 11.9
26 congenital hypothyroidism due to maternal intake of antithyroid drugs 11.9
27 congenital hypothyroidism due to transplacental passage of maternal tsh-binding inhibitory antibodies 11.9
28 chediak-higashi syndrome 11.6
29 thyroid dyshormonogenesis 1 11.6
30 thyroid dyshormonogenesis 2a 11.5
31 blood group, chido/rodgers system 11.4
32 fetal iodine deficiency disorder 11.4
33 central hypoventilation syndrome, congenital 11.4
34 hypothyroidism, central, and testicular enlargement 11.3
35 thyroid dyshormonogenesis 6 11.2
36 hypothyroidism, congenital, nongoitrous, 1 11.2
37 bamforth syndrome 11.1
38 cluster headache, familial 11.0
39 macroglossia 11.0
40 undifferentiated pleomorphic sarcoma 11.0
41 cyclic neutropenia 10.9
42 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 10.9
43 cluster headache 10.9
44 thyroid dyshormonogenesis 3 10.9
45 thyroid dyshormonogenesis 4 10.9
46 thyroid dyshormonogenesis 5 10.9
47 thyroid-stimulating hormone level quantitative trait locus 1 10.8
48 peripheral resistance to thyroid hormones 10.8
49 subacute lymphocytic thyroiditis 10.4 TG TPO
50 ovarian germ cell teratoma 10.4 NKX2-1 TG

Graphical network of the top 20 diseases related to Congenital Hypothyroidism:



Diseases related to Congenital Hypothyroidism

Symptoms & Phenotypes for Congenital Hypothyroidism

Human phenotypes related to Congenital Hypothyroidism:

31 (show all 43)
# Description HPO Frequency HPO Source Accession
1 hypogonadism 31 frequent (33%) HP:0000135
2 macroglossia 31 hallmark (90%) HP:0000158
3 oral cleft 31 occasional (7.5%) HP:0000202
4 sinusitis 31 frequent (33%) HP:0000246
5 coarse facial features 31 frequent (33%) HP:0000280
6 hearing impairment 31 occasional (7.5%) HP:0000365
7 depressed nasal ridge 31 frequent (33%) HP:0000457
8 anosmia 31 frequent (33%) HP:0000458
9 abnormality of vision 31 occasional (7.5%) HP:0000504
10 cataract 31 occasional (7.5%) HP:0000518
11 optic atrophy 31 occasional (7.5%) HP:0000648
12 depressivity 31 frequent (33%) HP:0000716
13 anxiety 31 frequent (33%) HP:0000739
14 nephrolithiasis 31 occasional (7.5%) HP:0000787
15 hypothyroidism 31 hallmark (90%) HP:0000821
16 hypertension 31 occasional (7.5%) HP:0000822
17 anterior hypopituitarism 31 occasional (7.5%) HP:0000830
18 goiter 31 occasional (7.5%) HP:0000853
19 angiokeratoma corporis diffusum 31 frequent (33%) HP:0001071
20 muscular hypotonia 31 hallmark (90%) HP:0001252
21 global developmental delay 31 frequent (33%) HP:0001263
22 reduced tendon reflexes 31 frequent (33%) HP:0001315
23 umbilical hernia 31 hallmark (90%) HP:0001537
24 abnormality of the hair 31 frequent (33%) HP:0001595
25 hoarse cry 31 frequent (33%) HP:0001615
26 abnormal pericardium morphology 31 occasional (7.5%) HP:0001697
27 constipation 31 hallmark (90%) HP:0002019
28 hypothermia 31 frequent (33%) HP:0002045
29 sleep disturbance 31 hallmark (90%) HP:0002360
30 tracheoesophageal fistula 31 occasional (7.5%) HP:0002575
31 hypotension 31 occasional (7.5%) HP:0002615
32 abdominal distention 31 hallmark (90%) HP:0003270
33 paresthesia 31 occasional (7.5%) HP:0003401
34 short stature 31 frequent (33%) HP:0004322
35 large posterior fontanelle 31 hallmark (90%) HP:0004491
36 intestinal obstruction 31 occasional (7.5%) HP:0005214
37 abnormality of epiphysis morphology 31 occasional (7.5%) HP:0005930
38 prolonged neonatal jaundice 31 hallmark (90%) HP:0006579
39 thyroid dysgenesis 31 hallmark (90%) HP:0008188
40 feeding difficulties in infancy 31 hallmark (90%) HP:0008872
41 intellectual disability, severe 31 frequent (33%) HP:0010864
42 arrhythmia 31 occasional (7.5%) HP:0011675
43 palpebral edema 31 frequent (33%) HP:0100540

MGI Mouse Phenotypes related to Congenital Hypothyroidism:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.81 NKX2-1 NKX2-5 PAX8 TG TPO TSHR
2 growth/size/body region MP:0005378 9.65 GLIS3 NKX2-1 NKX2-5 PAX8 TG TPO
3 homeostasis/metabolism MP:0005376 9.28 GLIS3 NKX2-1 NKX2-5 PAX8 TG TPO

Drugs & Therapeutics for Congenital Hypothyroidism

Drugs for Congenital Hypothyroidism (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones Phase 4,Phase 3
2 Pharmaceutical Solutions Phase 4
3
Flutamide Approved, Investigational Phase 3 13311-84-7 3397
4
Capecitabine Approved, Investigational Phase 3 154361-50-9 60953
5 Androgen Antagonists Phase 3
6 Androgens Phase 3
7 Antineoplastic Agents, Hormonal Phase 3
8 Contraceptive Agents Phase 3
9 Hormone Antagonists Phase 3
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
11 Luteolytic Agents Phase 3
12 Triptorelin Pamoate Phase 3
13 Antimetabolites Phase 3
14 Antimetabolites, Antineoplastic Phase 3
15
Carboplatin Approved Phase 2 41575-94-4 10339178 38904 498142
16
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
17
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
18
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
19 Albumin-Bound Paclitaxel Phase 2
20 Antimitotic Agents Phase 2
21 Antineoplastic Agents, Phytogenic Phase 2
22 Histamine Antagonists Phase 2
23 Histamine H1 Antagonists Phase 2
24 Histamine H2 Antagonists Phase 2
25 Methylprednisolone acetate Phase 2
26 Methylprednisolone Hemisuccinate Phase 2
27 Prednisolone acetate Phase 2
28 Prednisolone hemisuccinate Phase 2
29 Prednisolone phosphate Phase 2
30
Iodine Approved, Investigational 7553-56-2 807
31 cadexomer iodine
32 Radiopharmaceuticals
33 Sodium Pertechnetate Tc 99m

Interventional clinical trials:

(show all 16)

# Name Status NCT ID Phase Drugs
1 Randomized Crossover Trial for the Evaluation of the Possible Effects in the Intestine of Two Different Pharmaceutical Forms of L - Thyroxine in Patients With Primary Acquired Hypothyroidism Recruiting NCT02917863 Phase 4 L-Thyroxine (tablet, per os);L-Thyroxine (oral drops, solution)
2 Triptorelin, Flutamide, and External-Beam Radiation Therapy or External-Beam Radiation Therapy Alone in Treating Patients With Stage II or Stage III Prostate Cancer Unknown status NCT00104741 Phase 3 flutamide;triptorelin
3 Neoadjuvant Treatment for Advanced Rectal Carcinoma Recruiting NCT02551237 Phase 3 Capecitabine
4 EWOC-1 Trial: Carboplatin +/- Paclitaxel in Vulnerable Elderly Patients With Stage III-IV Advanced Ovarian Cancer Recruiting NCT02001272 Phase 2 Paclitaxel + Carboplatin every 3 weeks;Carboplatin monotherapy every 3 weeks;Weekly Paclitaxel and Carboplatin
5 Iodine Status in Pregnant Women and Their Newborns: is Congenital Hypothyroidism Related to Iodine Deficiency in Pregnancy? Unknown status NCT00505479
6 Measurement of Hormonal Concentration in Chylothorax Fluid in Infants With Congenital Chylothorax Unknown status NCT00267345
7 Clinical and Genetic Analysis in Congenital Hypothyroidism Due to Thyroid Dysgenesis. Completed NCT01916018
8 Targeted Levothyroxine Dosing in Infants With Congenital Hypothyroidism Completed NCT02374593 Levothyroxine
9 TG Gene Mutations and Congenital Hypothyroidism Completed NCT00493103
10 Diagnosis and Follow-up of Patients With Subclinical Hypothyroidism Completed NCT00497575
11 Generic vs. Name-Brand Levothyroxine Completed NCT00403390 Brand Name Levothyroxine (Synthroid);Generic formulation of Levothyroxine
12 A Study of 99m Tc Pertechnetate Produced in High Energy Cyclotron in Patients With Thyroid Scan Indication Completed NCT02307175
13 The Effects of Iodized Salt on Cognitive Development in Ethiopia Completed NCT01349634
14 Clinical Evaluation of NeoPlex4 Assay and NeoPlex System Completed NCT01488721
15 Subjective Factors of Polymedication in the Elderly: a Qualitative Study of the Perceptions of Patients, Relatives and Referent Physicians.(DOSAGE) Not yet recruiting NCT03309228
16 The Prevalence of Hearing Loss Among Children With Congenital Hypothyroidism Withdrawn NCT01223638

Search NIH Clinical Center for Congenital Hypothyroidism

Cochrane evidence based reviews: congenital hypothyroidism

Genetic Tests for Congenital Hypothyroidism

Genetic tests related to Congenital Hypothyroidism:

# Genetic test Affiliating Genes
1 Congenital Hypothyroidism 28

Anatomical Context for Congenital Hypothyroidism

MalaCards organs/tissues related to Congenital Hypothyroidism:

38
Thyroid, Brain, Testes, Bone, Heart, Prostate, Kidney

Publications for Congenital Hypothyroidism

Articles related to Congenital Hypothyroidism:

(show top 50) (show all 793)
# Title Authors Year
1
Association between monoallelic<i>TSHR</i>mutations and congenital hypothyroidism: a statistical approach. ( 29092890 )
2018
2
Congenital Hypothyroidism Due to Dyshormonogenesis in 2 Siblings. ( 29450818 )
2018
3
Genetic and functional analysis of two missense<i>DUOX2</i>mutations in congenital hypothyroidism and goiter. ( 29435108 )
2018
4
c-Fos downregulation positively regulates EphA5 expression in a congenital hypothyroidism rat model. ( 29330744 )
2018
5
Congenital Hypothyroidism. ( 29405999 )
2018
6
Mutation screening of the GLIS3 gene in a cohort of 592 Chinese patients with congenital hypothyroidism. ( 29146476 )
2018
7
Rectal Atresia and Congenital Hypothyroidism: An Association or Coincidence? ( 29326865 )
2018
8
Diagnostic re-evaluation of congenital hypothyroidism in Macedonia: predictors for transient or permanent hypothyroidism. ( 29335252 )
2018
9
Mean high dose L-thyroxine treatment is efficient and safe to achieve a normal IQ in young adult patients with congenital hypothyroidism. ( 29325045 )
2018
10
Newborn Screening Guidelines for Congenital Hypothyroidism in India: Recommendations of the Indian Society for Pediatric and Adolescent Endocrinology (ISPAE) - Part I: Screening and Confirmation of Diagnosis. ( 29380252 )
2018
11
WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion. ( 28398607 )
2017
12
Intrafamilial Phenotypic Variability and Consequences of Non-Compliance with Treatment in Congenital Adrenal Hyperplasia and Congenital Hypothyroidism within a Single Familya8c. ( 28359061 )
2017
13
Congenital Hypothyroidism: Facts, Facets & Therapy. ( 28176629 )
2017
14
Identification and characterization of novel PAX8 mutations in Congenital Hypothyroidism(CH) in a Chinese population. ( 28060725 )
2017
15
The Impact of Iodine Status on the Recall Rate of the Screening Program for Congenital Hypothyroidism: Findings from Two National Studies in Iran. ( 29084139 )
2017
16
Vocal Evaluation of Children with Congenital Hypothyroidism. ( 28986152 )
2017
17
Homozygous DUOXA2 mutation (p.Tyr138(*)) in a girl with congenital hypothyroidism and her apparently unaffected brother: Case report and review of the literature. ( 28626131 )
2017
18
Congenital Hypothyroidism in Neonates of a Tertiary Care Hospital. ( 29142577 )
2017
19
Timing of thyroid ultrasonography in the etiological investigation of congenital hypothyroidism. ( 28225993 )
2017
20
TARGETED LEVOTHYROXINE THERAPY FOR TREATMENT OF CONGENITAL HYPOTHYROIDISM. ( 28683242 )
2017
21
Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism. ( 28633507 )
2017
22
Hormonal and testicular changes in rats submitted to congenital hypothyroidism in early life. ( 27793676 )
2017
23
Screening of congenital hypothyroidism in preterm, low birth weight and very low birth weight neonates: A systematic review. ( 28811156 )
2017
24
Transient Congenital Hypothyroidism Alters Gene Expression of Glucose Transporters and Impairs Glucose Sensing Apparatus in Young and Aged Offspring Rats. ( 29073628 )
2017
25
Evaluation of neurodevelopment of children with congenital hypothyroidism by the Denver Developmental Screening Test. ( 28917084 )
2017
26
Are lower TSH cutoffs in neonatal screening for congenital hypothyroidism warranted? ( 28694389 )
2017
27
Pilot Neonatal Screening Program for Central Congenital Hypothyroidism: Evidence of Significant Detection. ( 28898885 )
2017
28
Provider variability in the initial diagnosis and treatment of congenital hypothyroidism. ( 28328531 )
2017
29
Etiological evaluation of primary congenital hypothyroidism cases. ( 28747839 )
2017
30
Prenatal diagnosis and successful intrauterine treatment of severe congenital hypothyroidism associated with fetal goiter. ( 27862717 )
2017
31
Fighting against congenital hypothyroidism - Old soldiers never die. ( 28916230 )
2017
32
Next-generation sequencing analysis of twelve known causative genes in congenital hypothyroidism. ( 28215547 )
2017
33
The incidence of congenital hypothyroidism (CH) in Guangxi, China and the predictors of permanent and transient CH. ( 29074613 )
2017
34
Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism. ( 28541007 )
2017
35
Mutation analysis of the NKX2.5 gene in Iranian pediatric patients with congenital hypothyroidism. ( 28749785 )
2017
36
Congenital hypothyroidism: insights into pathogenesis and treatment. ( 29026407 )
2017
37
Intelligence Quotient at the Age of 6 years of Iranian Children with Congenital Hypothyroidism. ( 28952455 )
2017
38
Congenital hypothyroidism due to ectopic sublingual thyroid gland in Prader-Willi Syndrome: a case report. ( 28938886 )
2017
39
Next-generation sequencing of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis. ( 28455095 )
2017
40
Worldwide Recall Rate in Newborn Screening Programs for Congenital Hypothyroidism. ( 29201074 )
2017
41
Prevalence of Congenital Hypothyroidism in Northern Border Region of Kingdom of Saudi Arabia. ( 28285292 )
2017
42
A Frequent Oligogenic Involvement in Congenital Hypothyroidism. ( 28444304 )
2017
43
[Characteristics of DUOXA2 gene mutation in children with congenital hypothyroidism]. ( 28100324 )
2017
44
Neonatal screening: 9% of children with filter paper thyroid-stimulating hormone levels between 5 and 10I1IU/mL have congenital hypothyroidism. ( 28738186 )
2017
45
Dyskeratosis congenita associated with congenital hypothyroidism. ( 29058334 )
2017
46
Primary Care Provider Management of Congenital Hypothyroidism Identified Through Newborn Screening. ( 28868522 )
2017
47
Neurodevelopmental Outcome of Children with Congenital Hypothyroidism Diagnosed in a National Screening Program in Turkey. ( 28368265 )
2017
48
Effects of L-thyroxine treatment on heart functions in infants with congenital hypothyroidism. ( 28358714 )
2017
49
Intellectual development in preschool children with early treated congenital hypothyroidism. ( 28690988 )
2017
50
Three-year follow-up of children with abnormal newborn screening results for congenital hypothyroidism. ( 28412200 )
2017

Variations for Congenital Hypothyroidism

ClinVar genetic disease variations for Congenital Hypothyroidism:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TPO NM_000547.5(TPO): c.2395G> A (p.Glu799Lys) single nucleotide variant Pathogenic rs121908085 GRCh37 Chromosome 2, 1507728: 1507728

Copy number variations for Congenital Hypothyroidism from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 225757 7 50314923 50440292 Copy number Congenital hypothyroidism

Expression for Congenital Hypothyroidism

Search GEO for disease gene expression data for Congenital Hypothyroidism.

Pathways for Congenital Hypothyroidism

GO Terms for Congenital Hypothyroidism

Biological processes related to Congenital Hypothyroidism according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.87 FOXE1 NKX2-1 NKX2-5 PAX8
2 regulation of transcription by RNA polymerase II GO:0006357 9.86 FOXE1 GLIS3 NKX2-1 NKX2-5
3 anatomical structure morphogenesis GO:0009653 9.7 FOXE1 PAX8 TSHB
4 response to oxidative stress GO:0006979 9.69 DUOX1 DUOX2 TPO
5 cellular oxidant detoxification GO:0098869 9.62 DUOX1 DUOX2 IYD TPO
6 negative regulation of cardiac muscle cell apoptotic process GO:0010667 9.55 NKX2-5 PAX8
7 hormone-mediated signaling pathway GO:0009755 9.54 TSHB TSHR
8 hydrogen peroxide catabolic process GO:0042744 9.54 DUOX1 DUOX2 TPO
9 hydrogen peroxide biosynthetic process GO:0050665 9.49 DUOX1 DUOX2
10 cellular response to gonadotropin stimulus GO:0071371 9.48 PAX8 SLC5A5
11 iodide transport GO:0015705 9.46 SLC5A5 TG
12 hormone biosynthetic process GO:0042446 9.46 DUOX1 DUOX2 TG TPO
13 cuticle development GO:0042335 9.43 DUOX1 DUOX2
14 thyroid hormone metabolic process GO:0042403 9.43 DUOX2 IYD TG
15 thyroid gland development GO:0030878 9.43 DUOX2 FOXE1 NKX2-1 NKX2-5 PAX8 TG
16 thyroid-stimulating hormone signaling pathway GO:0038194 9.4 PAX8 TSHR
17 thyroid hormone generation GO:0006590 9.1 DUOX1 DUOX2 FOXE1 IYD SLC5A5 TPO

Molecular functions related to Congenital Hypothyroidism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.71 FOXE1 NKX2-1 NKX2-5 PAX8
2 oxidoreductase activity GO:0016491 9.67 DUOX1 DUOX2 IYD TPO
3 transcription regulatory region DNA binding GO:0044212 9.61 NKX2-1 NKX2-5 PAX8
4 heme binding GO:0020037 9.5 DUOX1 DUOX2 TPO
5 NAD(P)H oxidase activity GO:0016174 9.26 DUOX1 DUOX2
6 iodide peroxidase activity GO:0004447 9.16 IYD TPO
7 thyroid-stimulating hormone receptor activity GO:0004996 8.96 PAX8 TSHR
8 peroxidase activity GO:0004601 8.8 DUOX1 DUOX2 TPO

Sources for Congenital Hypothyroidism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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