CPHD2
MCID: PTT046
MIFTS: 54

Pituitary Hormone Deficiency, Combined, 2 (CPHD2) malady

Categories: Genetic diseases, Reproductive diseases, Endocrine diseases, Rare diseases

Aliases & Classifications for Pituitary Hormone Deficiency, Combined, 2

Aliases & Descriptions for Pituitary Hormone Deficiency, Combined, 2:

Name: Pituitary Hormone Deficiency, Combined, 2 54 66 29 13
Panhypopituitarism 12 56 66 29 52 14 69
Combined Pituitary Hormone Deficiency 42
Ateliotic Dwarfism with Hypogonadism 66
Pituitary Dwarfism Type 3 69
Panhypopituitarism Nos 12
Pituitary Dwarfism Iii 66
Simmond's Disease 12
Simmonds' Disease 12
Sheehan Syndrome 69
Hanhart Dwarfism 66
Cphd2 66

Characteristics:

Orphanet epidemiological data:

56
panhypopituitarism
Inheritance: Autosomal recessive,X-linked recessive;

HPO:

32
pituitary hormone deficiency, combined, 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 262600
Disease Ontology 12 DOID:9410
ICD10 33 E23.0
ICD9CM 35 253.2
NCIt 47 C110940
Orphanet 56 ORPHA90695
ICD10 via Orphanet 34 E23.0
UMLS via Orphanet 70 C0242343
MedGen 40 C0878683
UMLS 69 C0242343

Summaries for Pituitary Hormone Deficiency, Combined, 2

UniProtKB/Swiss-Prot : 66 Pituitary hormone deficiency, combined, 2: Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD2 is characterized by pleiotropic deficiencies of growth hormone, thyroid-stimulating hormone, follicle- stimulating hormone, luteinizing hormone, prolactin and adrenocorticotropic hormone.

MalaCards based summary : Pituitary Hormone Deficiency, Combined, 2, also known as panhypopituitarism, is related to panhypopituitarism, x-linked and mental retardation, x-linked, with isolated growth hormone deficiency, and has symptoms including constipation, fatigue and osteopenia. An important gene associated with Pituitary Hormone Deficiency, Combined, 2 is PROP1 (PROP Paired-Like Homeobox 1), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Jak-STAT signaling pathway (KEGG). The drugs Cladribine and Cytarabine have been mentioned in the context of this disorder. Affiliated tissues include pituitary, thyroid and breast, and related phenotypes are endocrine/exocrine gland and growth/size/body region

Description from OMIM: 262600

Related Diseases for Pituitary Hormone Deficiency, Combined, 2

Diseases related to Pituitary Hormone Deficiency, Combined, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 214)
id Related Disease Score Top Affiliating Genes
1 panhypopituitarism, x-linked 12.2
2 mental retardation, x-linked, with isolated growth hormone deficiency 11.5
3 combined pituitary hormone deficiency 11.5
4 sheehan syndrome 11.1
5 hypopituitarism 11.1
6 lhx3-related combined pituitary hormone deficiency 11.0
7 pituitary hormone deficiency, combined, 1 10.8
8 holoprosencephaly-9 10.8
9 rolandic epilepsy, mental retardation, and speech dyspraxia 10.3 HESX1 SOX3
10 mental retardation, x-linked syndromic, christianson type 10.2 POU1F1 PROP1 SOX3
11 potter's syndrome 10.2 LHX3 PROP1
12 african histoplasmosis 10.2 POMC PRL
13 vaginal adenoma 10.2 IGF1 POMC
14 grin2a-related speech disorders and epilepsy 10.2 GH1 PRL
15 diabetes insipidus 10.1
16 deafness, autosomal dominant 25 10.1 GHR IGF1
17 vertebral artery occlusion 10.1 POMC PRL
18 extragonadal nonseminomatous germ cell tumor 10.1 POMC PRL
19 glaucoma, hereditary adult type 1a 10.1 GH1 PRL
20 critical congenital heart disease 10.1 GH1 IGF1
21 macrocephaly, benign familial 10.1 GH1 POMC
22 wheat allergy 10.1 POMC PRL
23 seow najjar syndrome 10.1 AVP IGF1
24 pancreatic colloid cystadenoma 10.1 POMC PRL
25 congenital amputation 10.1 HESX1 LHX4 POU1F1 PROP1
26 papillary craniopharyngioma 10.1 IGF1 POU1F1 PRL
27 pemphigus vegetans 10.1 GH1 GHR
28 spondylometaphyseal dysplasia, megarbane-dagher-melike type 10.1 GH1 IGF1
29 nonparalytic poliomyelitis 10.1 POMC PRL
30 macular retinal edema 10.1 AVP POMC
31 bagassosis 10.1 AVP POMC
32 glossopharyngeal nerve neoplasm 10.1 AVP POMC
33 pituitary adenoma, acth-secreting 10.1 IGF1 PRL
34 childhood kidney cell carcinoma 10.1 AVP POMC
35 dacryoadenitis 10.1 IGF1 POMC PRL
36 immune system organ benign neoplasm 10.0 IGF1 POMC PRL
37 pelvic muscle wasting 10.0 IGF1 POMC PRL
38 endocrine organ benign neoplasm 10.0 IGF1 POMC PRL
39 vestibular gland benign neoplasm 10.0 IGF1 POMC PRL
40 osseous heteroplasia, progressive 10.0 GH1 IGF1 PRL
41 epidural neoplasm 10.0 HESX1 LHX3 PROP1
42 axial osteomalacia 10.0 GH1 IGF1 PRL
43 congenital tricuspid stenosis 10.0 GH1 POMC PRL
44 intermittent squint 10.0 GH1 POMC PRL
45 olfactory nerve neoplasm 10.0 GH1 POMC PRL
46 hypogonadism cardiomyopathy 10.0 GH1 POMC
47 body dysmorphic disorder 10.0 IGF1 POMC PRL
48 infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations 10.0 GH1 POMC PRL
49 adrenal cortical adenocarcinoma 10.0 GHR POMC PRL
50 endometrial mixed adenocarcinoma 10.0 POMC TSHB

Comorbidity relations with Pituitary Hormone Deficiency, Combined, 2 via Phenotypic Disease Network (PDN):


Acute Cystitis Adrenal Cortical Hypofunction
Deficiency Anemia Diabetes Insipidus
Hypothyroidism

Graphical network of the top 20 diseases related to Pituitary Hormone Deficiency, Combined, 2:



Diseases related to Pituitary Hormone Deficiency, Combined, 2

Symptoms & Phenotypes for Pituitary Hormone Deficiency, Combined, 2

Symptoms by clinical synopsis from OMIM:

262600

Clinical features from OMIM:

262600

Human phenotypes related to Pituitary Hormone Deficiency, Combined, 2:

56 32 (show all 34)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 56 32 Occasional (29-5%) HP:0002019
2 fatigue 56 32 Frequent (79-30%) HP:0012378
3 osteopenia 56 32 Occasional (29-5%) HP:0000938
4 hypotension 56 32 Frequent (79-30%) HP:0002615
5 delayed skeletal maturation 56 32 Occasional (29-5%) HP:0002750
6 short stature 56 32 Frequent (79-30%) HP:0004322
7 delayed puberty 56 32 Occasional (29-5%) HP:0000823
8 hypoglycemia 56 32 Frequent (79-30%) HP:0001943
9 hypogonadotrophic hypogonadism 56 32 Frequent (79-30%) HP:0000044
10 depressed nasal ridge 56 32 Frequent (79-30%) HP:0000457
11 absence of secondary sex characteristics 56 32 Occasional (29-5%) HP:0008187
12 decreased testicular size 56 32 Frequent (79-30%) HP:0008734
13 infertility 56 32 Frequent (79-30%) HP:0000789
14 pituitary hypothyroidism 56 32 Frequent (79-30%) HP:0008245
15 decreased circulating acth level 56 32 Frequent (79-30%) HP:0002920
16 abnormality of secondary sexual hair 56 32 Frequent (79-30%) HP:0009888
17 osteoporosis of vertebrae 56 32 Occasional (29-5%) HP:0005625
18 aplasia/hypoplasia of the breasts 56 32 Frequent (79-30%) HP:0010311
19 amenorrhea 56 32 Frequent (79-30%) HP:0000141
20 abnormal prolactin level 56 32 Frequent (79-30%) HP:0040086
21 anterior pituitary hypoplasia 56 32 Frequent (79-30%) HP:0010627
22 pituitary dwarfism 56 32 Occasional (29-5%) HP:0000839
23 ectopic posterior pituitary 56 32 Very rare (<4-1%) HP:0011755
24 ectopic anterior pituitary gland 56 32 Very rare (<4-1%) HP:0012731
25 hypothyroidism 32 HP:0000821
26 growth delay 56 Frequent (79-30%)
27 hypogonadism 32 HP:0000135
28 panhypopituitarism 32 HP:0000871
29 neonatal hypoglycemia 32 HP:0001998
30 adrenal insufficiency 32 HP:0000846
31 hypoglycemic seizures 32 HP:0002173
32 growth hormone deficiency 56 Frequent (79-30%)
33 hypopituitarism 56 Obligate (100%)
34 prolactin deficiency 32 HP:0008202

MGI Mouse Phenotypes related to Pituitary Hormone Deficiency, Combined, 2:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.07 POU1F1 PRL PROP1 SOX3 GHR HESX1
2 growth/size/body region MP:0005378 9.97 GHR HESX1 IGF1 LHX3 POMC POU1F1
3 homeostasis/metabolism MP:0005376 9.96 POU1F1 PRL PROP1 SOX3 AVP GHR
4 mortality/aging MP:0010768 9.85 AVP GHR HESX1 IGF1 LHX3 LHX4
5 nervous system MP:0003631 9.7 AVP GHR HESX1 IGF1 LHX3 LHX4
6 reproductive system MP:0005389 9.23 GHR IGF1 LHX3 POU1F1 PRL PROP1

Drugs & Therapeutics for Pituitary Hormone Deficiency, Combined, 2

Drugs for Pituitary Hormone Deficiency, Combined, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 89)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cladribine Approved, Investigational Phase 2, Phase 3 4291-63-8 20279
2
Cytarabine Approved, Investigational Phase 2, Phase 3 147-94-4 6253
3
Indomethacin Approved, Investigational Phase 2, Phase 3 53-86-1 3715
4
Methotrexate Approved Phase 2, Phase 3 1959-05-2, 59-05-2 126941
5
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
6
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
7
Prednisone Approved, Vet_approved Phase 2, Phase 3 53-03-2 5865
8
Vinblastine Approved Phase 2, Phase 3 865-21-4 13342 241903
9
Vincristine Approved, Investigational Phase 2, Phase 3 2068-78-2, 57-22-7 5978
10
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
11
leucovorin Approved, Nutraceutical Phase 2, Phase 3 58-05-9 54575, 6560146 143
12 Hormone Antagonists Phase 3,Phase 2
13 Hormones Phase 3,Phase 2
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
15 insulin Phase 3,Phase 2
16 Insulin, Globin Zinc Phase 3,Phase 2
17 Anti-Inflammatory Agents Phase 2, Phase 3
18 Growth Hormone-Releasing Hormone Phase 3
19 Analgesics Phase 2, Phase 3
20 Analgesics, Non-Narcotic Phase 2, Phase 3
21 Peripheral Nervous System Agents Phase 2, Phase 3
22 2-chloro-3'-deoxyadenosine Phase 2, Phase 3
23 6-Mercaptopurine Phase 2, Phase 3
24 Antibodies Phase 2, Phase 3
25 Anti-Infective Agents Phase 2, Phase 3
26 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
27 Antimetabolites Phase 2, Phase 3
28 Antimetabolites, Antineoplastic Phase 2, Phase 3
29 Antimitotic Agents Phase 2, Phase 3
30 Antineoplastic Agents, Hormonal Phase 2, Phase 3
31 Antineoplastic Agents, Phytogenic Phase 2, Phase 3
32 Antirheumatic Agents Phase 2, Phase 3
33 Antiviral Agents Phase 2, Phase 3
34 Cyclooxygenase Inhibitors Phase 2, Phase 3
35 Dermatologic Agents Phase 2, Phase 3
36 Folic Acid Antagonists Phase 2, Phase 3
37 gamma-Globulins Phase 2, Phase 3
38 glucocorticoids Phase 2, Phase 3
39 Immunoglobulins Phase 2, Phase 3
40 Immunoglobulins, Intravenous Phase 2, Phase 3
41 Immunosuppressive Agents Phase 2, Phase 3
42 Methylprednisolone acetate Phase 2, Phase 3
43 Methylprednisolone Hemisuccinate Phase 2, Phase 3
44 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3
45 Prednisolone acetate Phase 2, Phase 3
46 Prednisolone hemisuccinate Phase 2, Phase 3
47 Prednisolone phosphate Phase 2, Phase 3
48 Rho(D) Immune Globulin Phase 2, Phase 3
49 Tocolytic Agents Phase 2, Phase 3
50 Vitamin B Complex Phase 2, Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase
1 Comparative Validation of the Growth Hormone Releasing Hormone and Arginine Test for the Diagnosis of Adult Growth Hormone Deficiency Completed NCT01060488 Phase 3
2 LCH-IV, International Collaborative Treatment Protocol for Children and Adolescents With Langerhans Cell Histiocytosis Recruiting NCT02205762 Phase 2, Phase 3
3 Growth Hormone as Add-on Treatment in Severe Fibromyalgia With Low IGF-1 Serum Levels (56 Characters) Completed NCT00497562 Phase 2
4 rhGH and rhIGF-1 Combination Therapy in Children With Short Stature Associated With IGF-1 Deficiency Terminated NCT00572156 Phase 2
5 Pegvisomant With Glucagon Test to Assess for Adult Growth Hormone Deficiency Unknown status NCT01804413
6 Effect of Nutritional Formula Supplementation on Growth Rate of Growth Hormone (GH) Treated Children With Growth Hormone Deficiency (GHD) After the Second Year of Therapy Not yet recruiting NCT03053687

Search NIH Clinical Center for Pituitary Hormone Deficiency, Combined, 2

Cochrane evidence based reviews: combined pituitary hormone deficiency

Genetic Tests for Pituitary Hormone Deficiency, Combined, 2

Genetic tests related to Pituitary Hormone Deficiency, Combined, 2:

id Genetic test Affiliating Genes
1 Pituitary Hormone Deficiency, Combined 2 29
2 Panhypopituitarism 29

Anatomical Context for Pituitary Hormone Deficiency, Combined, 2

MalaCards organs/tissues related to Pituitary Hormone Deficiency, Combined, 2:

39
Pituitary, Thyroid, Breast

Publications for Pituitary Hormone Deficiency, Combined, 2

Variations for Pituitary Hormone Deficiency, Combined, 2

UniProtKB/Swiss-Prot genetic disease variations for Pituitary Hormone Deficiency, Combined, 2:

66
id Symbol AA change Variation ID SNP ID
1 PROP1 p.Arg73Cys VAR_003768 rs121917843
2 PROP1 p.Phe117Ile VAR_003769 rs121917840
3 PROP1 p.Arg120Cys VAR_003770 rs121917839
4 PROP1 p.Arg73His VAR_012746 rs121917842
5 PROP1 p.Arg125Trp VAR_054973 rs146918863
6 PROP1 p.Phe88Ser VAR_063235 rs121917841
7 PROP1 p.Arg99Gln VAR_063236 rs137853100

ClinVar genetic disease variations for Pituitary Hormone Deficiency, Combined, 2:

6 (show all 23)
id Gene Variation Type Significance SNP ID Assembly Location
1 PROP1 NM_006261.4(PROP1): c.358C> T (p.Arg120Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121917839 GRCh37 Chromosome 5, 177420033: 177420033
2 PROP1 NM_006261.4(PROP1): c.349T> A (p.Phe117Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121917840 GRCh37 Chromosome 5, 177420042: 177420042
3 PROP1 NM_006261.4(PROP1): c.150_151delAG (p.Gly52Glufs) deletion Pathogenic rs587776681 GRCh38 Chromosome 5, 177994297: 177994298
4 PROP1 NM_006261.4(PROP1): c.301_302delAG (p.Leu102Cysfs) deletion Pathogenic rs193922688 GRCh37 Chromosome 5, 177421147: 177421148
5 PROP1 NM_006261.4(PROP1): c.263T> C (p.Phe88Ser) single nucleotide variant Pathogenic rs121917841 GRCh37 Chromosome 5, 177421186: 177421186
6 PROP1 NM_006261.4(PROP1): c.112_124delTCGAGTGCTCCAC (p.Ser38Profs) deletion Pathogenic/Likely pathogenic rs587776682 GRCh38 Chromosome 5, 177994324: 177994336
7 PROP1 NM_006261.4(PROP1): c.150delA (p.Arg53Aspfs) deletion Pathogenic rs587776683 GRCh38 Chromosome 5, 177994298: 177994298
8 PROP1 NM_006261.4(PROP1): c.218G> A (p.Arg73His) single nucleotide variant Pathogenic rs121917842 GRCh37 Chromosome 5, 177421231: 177421231
9 PROP1 NM_006261.4(PROP1): c.217C> T (p.Arg73Cys) single nucleotide variant Pathogenic rs121917843 GRCh37 Chromosome 5, 177421232: 177421232
10 PROP1 NM_006261.4(PROP1): c.295C> T (p.Arg99Ter) single nucleotide variant Pathogenic rs121917844 GRCh37 Chromosome 5, 177421154: 177421154
11 PROP1 NM_006261.4(PROP1): c.296G> A (p.Arg99Gln) single nucleotide variant Pathogenic rs137853100 GRCh37 Chromosome 5, 177421153: 177421153
12 PROP1 NM_006261.4(PROP1): c.582G> A (p.Trp194Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121917845 GRCh37 Chromosome 5, 177419809: 177419809
13 PROP1 NM_006261.4(PROP1): c.274C> T (p.Gln92Ter) single nucleotide variant Likely pathogenic rs794726693 GRCh38 Chromosome 5, 177994174: 177994174
14 PROP1 NM_006261.4(PROP1): c.334C> T (p.Arg112Ter) single nucleotide variant Likely pathogenic rs766673446 GRCh38 Chromosome 5, 177994114: 177994114
15 PROP1 NM_006261.4(PROP1): c.310delC (p.Arg104Glyfs) deletion Likely pathogenic rs786204663 GRCh38 Chromosome 5, 177994138: 177994138
16 46;X;t(X;5)(q24;q13)dn Translocation Pathogenic
17 PROP1 NM_006261.4(PROP1): c.557delC (p.Ala186Valfs) deletion Likely pathogenic rs762529663 GRCh38 Chromosome 5, 177992833: 177992833
18 PROP1 NM_006261.4(PROP1): c.390_391delAC (p.Leu131Alafs) deletion Likely pathogenic rs1057517027 GRCh37 Chromosome 5, 177420000: 177420001
19 PROP1 NM_006261.4(PROP1): c.343-2A> T single nucleotide variant Likely pathogenic rs1057517041 GRCh37 Chromosome 5, 177420050: 177420050
20 PROP1 NM_006261.4(PROP1): c.288_289delCT (p.Ile96Metfs) deletion Likely pathogenic rs1057516832 GRCh38 Chromosome 5, 177994159: 177994160
21 PROP1 NM_006261.4(PROP1): c.197dupC (p.His67Alafs) duplication Likely pathogenic rs1057517424 GRCh37 Chromosome 5, 177421252: 177421252
22 PROP1 NM_006261.4(PROP1): c.110-2A> G single nucleotide variant Likely pathogenic rs1057516846 GRCh38 Chromosome 5, 177994340: 177994340
23 PROP1 NM_006261.4(PROP1): c.3G> C (p.Met1Ile) single nucleotide variant Likely pathogenic GRCh37 Chromosome 5, 177422932: 177422932

Expression for Pituitary Hormone Deficiency, Combined, 2

Search GEO for disease gene expression data for Pituitary Hormone Deficiency, Combined, 2.

Pathways for Pituitary Hormone Deficiency, Combined, 2

GO Terms for Pituitary Hormone Deficiency, Combined, 2

Cellular components related to Pituitary Hormone Deficiency, Combined, 2 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.87 AVP GH1 GHR IGF1 POMC PRL
2 extracellular space GO:0005615 9.73 AVP GH1 GHR IGF1 POMC TSHB
3 transcription factor complex GO:0005667 9.54 LHX3 POU1F1 PROP1
4 endosome lumen GO:0031904 9.16 GH1 PRL
5 secretory granule GO:0030141 9.13 AVP POMC PRL
6 growth hormone receptor complex GO:0070195 8.62 GH1 GHR

Biological processes related to Pituitary Hormone Deficiency, Combined, 2 according to GeneCards Suite gene sharing:

(show all 24)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.91 AVP IGF1 POU1F1 PRL
2 negative regulation of apoptotic process GO:0043066 9.88 AVP IGF1 LHX3 LHX4 PROP1
3 animal organ morphogenesis GO:0009887 9.73 LHX3 LHX4 PROP1
4 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.7 GH1 GHR IGF1
5 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.63 GH1 GHR IGF1
6 JAK-STAT cascade GO:0007259 9.61 GH1 GHR
7 hormone-mediated signaling pathway GO:0009755 9.6 GHR TSHB
8 ERK1 and ERK2 cascade GO:0070371 9.59 AVP IGF1
9 motor neuron axon guidance GO:0008045 9.58 LHX3 LHX4
10 peptide hormone processing GO:0016486 9.58 POMC TSHB
11 positive regulation of multicellular organism growth GO:0040018 9.58 GH1 GHR POU1F1
12 negative regulation of release of cytochrome c from mitochondria GO:0090201 9.57 AVP IGF1
13 insulin-like growth factor receptor signaling pathway GO:0048009 9.55 GHR IGF1
14 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.54 GH1 IGF1
15 adenohypophysis development GO:0021984 9.51 POU1F1 PROP1
16 regulation of multicellular organism growth GO:0040014 9.5 GHR IGF1 PRL
17 growth hormone receptor signaling pathway GO:0060396 9.49 GH1 GHR
18 somatotropin secreting cell differentiation GO:0060126 9.43 POU1F1 PROP1
19 positive regulation of JAK-STAT cascade GO:0046427 9.43 GH1 GHR PRL
20 medial motor column neuron differentiation GO:0021526 9.37 LHX3 LHX4
21 positive regulation of tyrosine phosphorylation of Stat5 protein GO:0042523 9.33 GH1 GHR IGF1
22 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.13 GH1 GHR PRL
23 pituitary gland development GO:0021983 8.92 HESX1 LHX3 POU1F1 SOX3
24 positive regulation of transcription from RNA polymerase II promoter GO:0045944 10.02 IGF1 LHX3 POMC POU1F1 PROP1

Molecular functions related to Pituitary Hormone Deficiency, Combined, 2 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.55 HESX1 LHX3 LHX4 POU1F1 PROP1
2 hormone activity GO:0005179 9.1 AVP GH1 IGF1 POMC PRL TSHB
3 prolactin receptor binding GO:0005148 8.96 GH1 PRL

Sources for Pituitary Hormone Deficiency, Combined, 2

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