NS4
MCID: NNN011
MIFTS: 47

Noonan Syndrome 4 (NS4)

Categories: Cardiovascular diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Skin diseases

Aliases & Classifications for Noonan Syndrome 4

Summaries for Noonan Syndrome 4

UniProtKB/Swiss-Prot : 72 Noonan syndrome 4: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. Some patients with NS4 have polyarticular villonodular synovitis.

MalaCards based summary : Noonan Syndrome 4, also known as ns4, is related to hepatitis c virus and hepatitis c. An important gene associated with Noonan Syndrome 4 is SOS1 (SOS Ras/Rac Guanine Nucleotide Exchange Factor 1), and among its related pathways/superpathways are PKC-Theta Pathway and TCR signaling in naive CD4+ T cells. Affiliated tissues include eye, skin and heart, and related phenotypes are prolonged bleeding time and macrocephaly

Disease Ontology : 12 A Noonan syndrome that has material basis in heterozygous mutation in the SOS1 gene on chromosome 2p22.

More information from OMIM: 610733 PS163950

Related Diseases for Noonan Syndrome 4

Diseases in the Noonan Syndrome 1 family:

Noonan Syndrome 2 Noonan Syndrome 3
Noonan Syndrome 4 Noonan Syndrome 5
Noonan Syndrome 6 Noonan Syndrome 7
Noonan Syndrome 8 Noonan Syndrome 9
Noonan Syndrome 10 Noonan Syndrome 11
Noonan Syndrome 12 Noonan Syndrome 13

Diseases related to Noonan Syndrome 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 150)
# Related Disease Score Top Affiliating Genes
1 hepatitis c virus 30.6 MAVS IFNL3 DDX58 CD81
2 hepatitis c 30.4 MAVS IFNA1 DDX58 CD81
3 hepatitis 30.1 MAVS IFNA1 DDX58 CD81
4 hepatitis a 30.0 MAVS IFNA1 CD4
5 disease by infectious agent 30.0 PRODH IFNA1 CD8A CD4
6 cryoglobulinemia 30.0 IFNL3 IFNA1 CD81
7 noonan syndrome 1 28.8 SOS1 PRODH PDE6B MAVS KANSL2 IFNA1
8 otomycosis 10.4 POLR2B BDNF-AS
9 spastic monoplegia 10.4 RD3 PDE6B
10 cork-handlers' disease 10.4 CD8A CD4
11 necrotic uveal melanoma 10.4 CD8A CD4
12 penicilliosis 10.4 POLR2B CD4
13 early yaws 10.4 CD8A CD4
14 ventilation pneumonitis 10.4 CD8A CD4
15 diffuse infiltrative lymphocytosis syndrome 10.4 CD8A CD4
16 thymic dysplasia 10.4 PRODH CD4
17 latent syphilis 10.4 CD8A CD4
18 type 1 diabetes mellitus 23 10.4 CD8A CD4
19 autoimmune lymphoproliferative syndrome, type iia 10.4 CD8A CD4
20 white piedra 10.4 POLR2B POLR2A
21 parapsoriasis 10.4 CD8A CD4
22 gastroduodenitis 10.4 CD8A CD4
23 primary syphilis 10.4 CD8A CD4
24 norwegian scabies 10.4 CD8A CD4
25 suppurative lymphadenitis 10.4 PDE6B CD4
26 wissler-fanconi syndrome 10.4 IFNA1 CD4
27 bird fancier's lung 10.4 CD8A CD4
28 dermatomycosis 10.4 POLR2B CD4
29 metal allergy 10.3 CD8A CD4
30 variola major 10.3 CD8A CD4
31 tertiary neurosyphilis 10.3 ITPA CD4
32 follicular mucinosis 10.3 CD8A CD4
33 trichosporonosis 10.3 POLR2B POLR2A
34 tertiary syphilis 10.3 CD8A CD4
35 spongiotic dermatitis 10.3 CD8A CD4
36 asymptomatic neurosyphilis 10.3 ITPA CD4
37 acute retinal necrosis syndrome 10.3 CD8A CD4
38 external ear disease 10.3 POLR2B CD4 BDNF-AS
39 otitis externa 10.3 POLR2B CD4 BDNF-AS
40 phaeohyphomycosis 10.3 POLR2B BDNF-AS
41 cerebral lymphoma 10.3 CD8A CD4
42 tinea capitis 10.3 POLR2B CD4
43 oral tuberculosis 10.3 CD8A CD4
44 cerebritis 10.3 CD8A CD4
45 invasive malignant thymoma 10.3 CD8A CD4
46 fusariosis 10.3 POLR2B POLR2A
47 granulomatous hepatitis 10.3 CD8A CD4
48 marburg hemorrhagic fever 10.3 IFNA1 CD8A
49 exanthema subitum 10.3 CD8A CD4
50 immunodeficiency 36 10.3 CD8A CD4

Graphical network of the top 20 diseases related to Noonan Syndrome 4:



Diseases related to Noonan Syndrome 4

Symptoms & Phenotypes for Noonan Syndrome 4

Human phenotypes related to Noonan Syndrome 4:

31 (show all 26)
# Description HPO Frequency HPO Source Accession
1 prolonged bleeding time 31 occasional (7.5%) HP:0003010
2 macrocephaly 31 HP:0000256
3 scoliosis 31 HP:0002650
4 ptosis 31 HP:0000508
5 short neck 31 HP:0000470
6 depressed nasal bridge 31 HP:0005280
7 hypertelorism 31 HP:0000316
8 dental malocclusion 31 HP:0000689
9 short stature 31 HP:0004322
10 thick lower lip vermilion 31 HP:0000179
11 cryptorchidism 31 HP:0000028
12 cubitus valgus 31 HP:0002967
13 wide intermamillary distance 31 HP:0006610
14 webbed neck 31 HP:0000465
15 epicanthus 31 HP:0000286
16 hypertrophic cardiomyopathy 31 HP:0001639
17 blue irides 31 HP:0000635
18 downslanted palpebral fissures 31 HP:0000494
19 low-set, posteriorly rotated ears 31 HP:0000368
20 ventricular septal defect 31 HP:0001629
21 pulmonic stenosis 31 HP:0001642
22 high anterior hairline 31 HP:0009890
23 curly hair 31 HP:0002212
24 keratosis pilaris 31 HP:0032152
25 sparse and thin eyebrow 31 HP:0000535
26 pectus excavatum of inferior sternum 31 HP:0000915

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Head:
macrocephaly

Head And Neck Eyes:
ptosis
hypertelorism
downslanting palpebral fissures
epicanthal folds
blue eyes
more
Head And Neck Teeth:
dental malocclusion

Genitourinary Internal Genitalia Male:
cryptorchidism

Cardiovascular Heart:
hypertrophic cardiomyopathy
pulmonic stenosis
congenital heart defect
ventricular septal defects

Skin Nails Hair Skin:
keratosis pilaris
ectodermal symptoms

Chest Breasts:
widely spaced nipples

Head And Neck Ears:
low-set posteriorly rotated ears

Neoplasia:
multiple giant cell granulomas (bones, joints, soft tissues)

Hematology:
prolonged bleeding time (less common)

Skeletal Spine:
scoliosis

Head And Neck Neck:
short neck
webbed neck

Growth Height:
short stature

Skeletal Limbs:
cubitus valgus
blunt fingertips
polyarticular villonodular synovitis in knees, ankles, wrists, and/or elbows (in some patients)

Skin Nails Hair Hair:
high anterior hairline
curly hair
sparse eyebrows

Head And Neck Mouth:
thick lips

Head And Neck Nose:
flat nasal bridge

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum inferiorly

Neurologic Central Nervous System:
mild cognitive impairment (less common)

Laboratory Abnormalities:
partial deficiency of factor xi (less common)
partial deficiency of factor xiii (less common)

Clinical features from OMIM®:

610733 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Noonan Syndrome 4:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.97 CD4 CD81 CD8A CTTNBP2 DDX58 ITPA
2 integument MP:0010771 9.61 CD4 CD8A ITPA MAVS PDE6B POLR2A
3 nervous system MP:0003631 9.44 CD4 CD81 CD8A IFNL3 KANSL2 MAVS

Drugs & Therapeutics for Noonan Syndrome 4

Search Clinical Trials , NIH Clinical Center for Noonan Syndrome 4

Genetic Tests for Noonan Syndrome 4

Genetic tests related to Noonan Syndrome 4:

# Genetic test Affiliating Genes
1 Noonan Syndrome 4 29 SOS1

Anatomical Context for Noonan Syndrome 4

MalaCards organs/tissues related to Noonan Syndrome 4:

40
Eye, Skin, Heart, Liver, Lung, Myeloid

Publications for Noonan Syndrome 4

Articles related to Noonan Syndrome 4:

(show all 12)
# Title Authors PMID Year
1
Variable phenotypic expression in a large Noonan syndrome family segregating a novel SOS1 mutation. 6 57
28884940 2017
2
External ear anomalies and hearing impairment in Noonan Syndrome. 57 6
25862627 2015
3
SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome. 6 57
19438935 2009
4
Pigmented villonodular synovitis in a patient with Noonan syndrome and SOS1 gene mutation. 57 6
18925667 2008
5
Clinical and molecular characterization of 40 patients with Noonan syndrome. 57 6
18678287 2008
6
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. 57 6
17586837 2007
7
Germline gain-of-function mutations in SOS1 cause Noonan syndrome. 6 57
17143285 2007
8
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. 57 6
17143282 2007
9
The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome. 6
30784236 2019
10
Behavioral profile in RASopathies. 6
24458522 2014
11
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. 6
21387466 2011
12
[The neurofibromatosis-Noonan syndrome: 4 cases]. 61
8210104 1993

Variations for Noonan Syndrome 4

ClinVar genetic disease variations for Noonan Syndrome 4:

6 (show top 50) (show all 173)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SOS1 NM_005633.3(SOS1):c.797C>A (p.Thr266Lys) SNV Pathogenic 12869 rs137852812 GRCh37: 2:39278352-39278352
GRCh38: 2:39051211-39051211
2 SOS1 NM_005633.3(SOS1):c.806T>G (p.Met269Arg) SNV Pathogenic 12870 rs137852813 GRCh37: 2:39278343-39278343
GRCh38: 2:39051202-39051202
3 SOS1 NM_005633.3(SOS1):c.1654A>G (p.Arg552Gly) SNV Pathogenic 12871 rs137852814 GRCh37: 2:39249915-39249915
GRCh38: 2:39022774-39022774
4 SOS1 NM_005633.3(SOS1):c.1656G>C (p.Arg552Ser) SNV Pathogenic 12872 rs267607079 GRCh37: 2:39249913-39249913
GRCh38: 2:39022772-39022772
5 SOS1 NM_005633.3(SOS1):c.1294T>C (p.Trp432Arg) SNV Pathogenic 12873 rs267607080 GRCh37: 2:39250275-39250275
GRCh38: 2:39023134-39023134
6 SOS1 NM_005633.3(SOS1):c.806T>C (p.Met269Thr) SNV Pathogenic 40662 rs137852813 GRCh37: 2:39278343-39278343
GRCh38: 2:39051202-39051202
7 SOS1 NM_005633.3(SOS1):c.2536G>A (p.Glu846Lys) SNV Pathogenic 40706 rs397517159 GRCh37: 2:39234309-39234309
GRCh38: 2:39007168-39007168
8 SOS1 NM_005633.3(SOS1):c.1656G>C (p.Arg552Ser) SNV Pathogenic 12872 rs267607079 GRCh37: 2:39249913-39249913
GRCh38: 2:39022772-39022772
9 SOS1 NM_005633.3(SOS1):c.1654A>G (p.Arg552Gly) SNV Pathogenic 12871 rs137852814 GRCh37: 2:39249915-39249915
GRCh38: 2:39022774-39022774
10 SOS1 NM_005633.3(SOS1):c.1656G>T (p.Arg552Ser) SNV Pathogenic 40684 rs267607079 GRCh37: 2:39249913-39249913
GRCh38: 2:39022772-39022772
11 SOS1 NM_005633.3(SOS1):c.797C>A (p.Thr266Lys) SNV Pathogenic 12869 rs137852812 GRCh37: 2:39278352-39278352
GRCh38: 2:39051211-39051211
12 SOS1 NM_005633.3(SOS1):c.1300G>A (p.Gly434Arg) SNV Pathogenic 40672 rs397517148 GRCh37: 2:39250269-39250269
GRCh38: 2:39023128-39023128
13 SOS1 NM_005633.3(SOS1):c.1655G>A (p.Arg552Lys) SNV Pathogenic 40683 rs397517154 GRCh37: 2:39249914-39249914
GRCh38: 2:39022773-39022773
14 SOS1 NM_005633.4(SOS1):c.3134C>G (p.Pro1045Arg) SNV Pathogenic 932923 GRCh37: 2:39222476-39222476
GRCh38: 2:38995335-38995335
15 SOS1 NM_005633.3(SOS1):c.1642A>C (p.Ser548Arg) SNV Pathogenic 40678 rs397517149 GRCh37: 2:39249927-39249927
GRCh38: 2:39022786-39022786
16 SOS1 NM_005633.3(SOS1):c.2183A>T (p.Lys728Ile) SNV Likely pathogenic 40699 rs397517156 GRCh37: 2:39239474-39239474
GRCh38: 2:39012333-39012333
17 SOS1 NM_005633.3(SOS1):c.979A>G (p.Ile327Val) SNV Uncertain significance 444007 rs758546951 GRCh37: 2:39262448-39262448
GRCh38: 2:39035307-39035307
18 SOS1 NM_005633.3(SOS1):c.*534C>T SNV Uncertain significance 336009 rs773935049 GRCh37: 2:39212431-39212431
GRCh38: 2:38985290-38985290
19 SOS1 NM_005633.3(SOS1):c.2121T>C (p.Asp707=) SNV Uncertain significance 336019 rs571408451 GRCh37: 2:39240647-39240647
GRCh38: 2:39013506-39013506
20 SOS1 NM_005633.3(SOS1):c.*2218T>A SNV Uncertain significance 335983 rs886056009 GRCh37: 2:39210747-39210747
GRCh38: 2:38983606-38983606
21 SOS1 NM_005633.3(SOS1):c.*1303C>A SNV Uncertain significance 335998 rs115153488 GRCh37: 2:39211662-39211662
GRCh38: 2:38984521-38984521
22 SOS1 NM_005633.3(SOS1):c.3709C>G (p.Pro1237Ala) SNV Uncertain significance 336015 rs371408734 GRCh37: 2:39213258-39213258
GRCh38: 2:38986117-38986117
23 SOS1 NM_005633.3(SOS1):c.1720G>A (p.Val574Ile) SNV Uncertain significance 179117 rs727504641 GRCh37: 2:39249849-39249849
GRCh38: 2:39022708-39022708
24 SOS1 NM_005633.3(SOS1):c.1098T>A (p.Asp366Glu) SNV Uncertain significance 181548 rs730881040 GRCh37: 2:39251255-39251255
GRCh38: 2:39024114-39024114
25 SOS1 NM_005633.3(SOS1):c.487A>G (p.Lys163Glu) SNV Uncertain significance 281652 rs886042206 GRCh37: 2:39283866-39283866
GRCh38: 2:39056725-39056725
26 SOS1 NM_005633.3(SOS1):c.3068C>G (p.Pro1023Arg) SNV Uncertain significance 637024 rs1572806229 GRCh37: 2:39224076-39224076
GRCh38: 2:38996935-38996935
27 SOS1 NM_005633.3(SOS1):c.985G>A (p.Glu329Lys) SNV Uncertain significance 543987 rs756679265 GRCh37: 2:39262442-39262442
GRCh38: 2:39035301-39035301
28 SOS1 NM_005633.3(SOS1):c.848T>C (p.Phe283Ser) SNV Uncertain significance 829867 rs1572855029 GRCh37: 2:39278301-39278301
GRCh38: 2:39051160-39051160
29 SOS1 NM_005633.3(SOS1):c.3418T>A (p.Leu1140Ile) SNV Uncertain significance 40729 rs375550588 GRCh37: 2:39214706-39214706
GRCh38: 2:38987565-38987565
30 SOS1 NM_005633.3(SOS1):c.1574T>C (p.Ile525Thr) SNV Uncertain significance 279934 rs146722878 GRCh37: 2:39249995-39249995
GRCh38: 2:39022854-39022854
31 SOS1 NM_005633.3(SOS1):c.2316G>C (p.Glu772Asp) SNV Uncertain significance 592123 rs1176763588 GRCh37: 2:39239341-39239341
GRCh38: 2:39012200-39012200
32 SOS1 NM_005633.4(SOS1):c.*1535G>A SNV Uncertain significance 895719 GRCh37: 2:39211430-39211430
GRCh38: 2:38984289-38984289
33 SOS1 NM_005633.4(SOS1):c.*1477G>A SNV Uncertain significance 895720 GRCh37: 2:39211488-39211488
GRCh38: 2:38984347-38984347
34 SOS1 NM_005633.4(SOS1):c.*1412A>G SNV Uncertain significance 895721 GRCh37: 2:39211553-39211553
GRCh38: 2:38984412-38984412
35 SOS1 NM_005633.4(SOS1):c.*664C>T SNV Uncertain significance 895788 GRCh37: 2:39212301-39212301
GRCh38: 2:38985160-38985160
36 SOS1 NM_005633.4(SOS1):c.*110C>A SNV Uncertain significance 895863 GRCh37: 2:39212855-39212855
GRCh38: 2:38985714-38985714
37 SOS1 NM_005633.3(SOS1):c.1018C>T (p.Pro340Ser) SNV Uncertain significance 40664 rs190222208 GRCh37: 2:39262409-39262409
GRCh38: 2:39035268-39035268
38 SOS1 NM_005633.4(SOS1):c.*4014T>C SNV Uncertain significance 895514 GRCh37: 2:39208951-39208951
GRCh38: 2:38981810-38981810
39 SOS1 NM_005633.4(SOS1):c.*3989G>C SNV Uncertain significance 895515 GRCh37: 2:39208976-39208976
GRCh38: 2:38981835-38981835
40 SOS1 NM_005633.4(SOS1):c.*3811T>C SNV Uncertain significance 895516 GRCh37: 2:39209154-39209154
GRCh38: 2:38982013-38982013
41 SOS1 NM_005633.4(SOS1):c.*3326T>C SNV Uncertain significance 895590 GRCh37: 2:39209639-39209639
GRCh38: 2:38982498-38982498
42 SOS1 NM_005633.4(SOS1):c.*3291C>T SNV Uncertain significance 895591 GRCh37: 2:39209674-39209674
GRCh38: 2:38982533-38982533
43 SOS1 NM_005633.4(SOS1):c.*3252A>C SNV Uncertain significance 895592 GRCh37: 2:39209713-39209713
GRCh38: 2:38982572-38982572
44 SOS1 NM_005633.4(SOS1):c.*3230T>C SNV Uncertain significance 895593 GRCh37: 2:39209735-39209735
GRCh38: 2:38982594-38982594
45 SOS1 NM_005633.4(SOS1):c.*2257C>G SNV Uncertain significance 895652 GRCh37: 2:39210708-39210708
GRCh38: 2:38983567-38983567
46 SOS1 NM_005633.4(SOS1):c.*2246A>T SNV Uncertain significance 895653 GRCh37: 2:39210719-39210719
GRCh38: 2:38983578-38983578
47 SOS1 NM_005633.3(SOS1):c.*909G>A SNV Uncertain significance 336001 rs147219108 GRCh37: 2:39212056-39212056
GRCh38: 2:38984915-38984915
48 SOS1 NM_005633.3(SOS1):c.*1589T>G SNV Uncertain significance 335992 rs886056014 GRCh37: 2:39211376-39211376
GRCh38: 2:38984235-38984235
49 SOS1 NM_005633.3(SOS1):c.*4265A>G SNV Uncertain significance 335963 rs377303107 GRCh37: 2:39208700-39208700
GRCh38: 2:38981559-38981559
50 SOS1 NM_005633.3(SOS1):c.*4C>T SNV Uncertain significance 177950 rs188849286 GRCh37: 2:39212961-39212961
GRCh38: 2:38985820-38985820

UniProtKB/Swiss-Prot genetic disease variations for Noonan Syndrome 4:

72 (show all 38)
# Symbol AA change Variation ID SNP ID
1 SOS1 p.Glu108Lys VAR_030423 rs397517164
2 SOS1 p.Thr266Lys VAR_030424 rs137852812
3 SOS1 p.Met269Arg VAR_030425 rs137852813
4 SOS1 p.Asp309Tyr VAR_030426 rs397517180
5 SOS1 p.Tyr337Cys VAR_030427 rs724160007
6 SOS1 p.Trp432Arg VAR_030428 rs267607080
7 SOS1 p.Glu433Lys VAR_030429 rs397517147
8 SOS1 p.Gly434Arg VAR_030430 rs397517148
9 SOS1 p.Cys441Tyr VAR_030431 rs727504295
10 SOS1 p.Ser548Arg VAR_030432 rs397517149
11 SOS1 p.Leu550Pro VAR_030433 rs397517153
12 SOS1 p.Arg552Gly VAR_030434 rs137852814
13 SOS1 p.Arg552Lys VAR_030435 rs397517154
14 SOS1 p.Arg552Ser VAR_030436 rs267607079
15 SOS1 p.Tyr702His VAR_030438 rs727505381
16 SOS1 p.Trp729Leu VAR_030439
17 SOS1 p.Ile733Phe VAR_030440 rs574088829
18 SOS1 p.Glu846Lys VAR_030441 rs397517159
19 SOS1 p.Met269Thr VAR_064504 rs137852813
20 SOS1 p.Gln477Arg VAR_064505 rs730881044
21 SOS1 p.Arg497Gln VAR_064506 rs371314838
22 SOS1 p.Pro102Arg VAR_066032 rs155336293
23 SOS1 p.Pro112Arg VAR_066033 rs397517166
24 SOS1 p.Lys170Glu VAR_066034 rs397517172
25 SOS1 p.Ile252Thr VAR_066035 rs142094234
26 SOS1 p.Thr378Ala VAR_066036 rs397517146
27 SOS1 p.Met422Val VAR_066037
28 SOS1 p.Glu424Lys VAR_066038 rs730881041
29 SOS1 p.Gly434Lys VAR_066041 rs730881048
30 SOS1 p.Ile437Thr VAR_066042 rs397517150
31 SOS1 p.Pro478Arg VAR_066044
32 SOS1 p.Gly482Arg VAR_066045 rs143157438
33 SOS1 p.Leu490Arg VAR_066046
34 SOS1 p.Thr549Lys VAR_066047 rs730881046
35 SOS1 p.Arg552Met VAR_066048 rs397517154
36 SOS1 p.Arg552Thr VAR_066049 rs397517154
37 SOS1 p.Phe623Ile VAR_066052
38 SOS1 p.Pro894Arg VAR_066055 rs136771475

Expression for Noonan Syndrome 4

Search GEO for disease gene expression data for Noonan Syndrome 4.

Pathways for Noonan Syndrome 4

Pathways related to Noonan Syndrome 4 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.95 SOS1 POLR2B POLR2A CD8A CD4
2
Show member pathways
11.53 SOS1 CD8A CD4
3 11.36 POLR2B POLR2A ITPA
4 11.2 RUNX3 CD8A CD4
5
Show member pathways
10.16 MAVS IFNL3 DDX58

GO Terms for Noonan Syndrome 4

Cellular components related to Noonan Syndrome 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II, core complex GO:0005665 8.96 POLR2B POLR2A
2 photoreceptor outer segment GO:0001750 8.8 RD3 PRPH2 PDE6B

Biological processes related to Noonan Syndrome 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 9.72 POLR2A MAVS DDX58 CD81 CD4
2 cytokine-mediated signaling pathway GO:0019221 9.67 SOS1 IFNL3 IFNA1 CD4
3 defense response to virus GO:0051607 9.46 MAVS IFNL3 IFNA1 DDX58
4 retina development in camera-type eye GO:0060041 9.43 RD3 PRPH2 PDE6B
5 positive regulation of response to cytokine stimulus GO:0060760 8.96 MAVS DDX58
6 positive regulation of myeloid dendritic cell cytokine production GO:0002735 8.62 MAVS DDX58

Molecular functions related to Noonan Syndrome 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 MHC class II protein binding GO:0042289 8.96 CD81 CD4
2 RNA polymerase II activity GO:0001055 8.62 POLR2B POLR2A

Sources for Noonan Syndrome 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....