NFNS
MCID: NRF008
MIFTS: 43

Neurofibromatosis-Noonan Syndrome (NFNS)

Categories: Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Neurofibromatosis-Noonan Syndrome

MalaCards integrated aliases for Neurofibromatosis-Noonan Syndrome:

Name: Neurofibromatosis-Noonan Syndrome 58 77 54 60 76 38 30 13 56 6 41 74
Nfns 58 54 60 76
Neurofibromatosis with Noonan Phenotype 58 54
Neurofibromatosis Type 1-Noonan Syndrome 60
Noonan-Neurofibromatosis Syndrome 58
Noonan Neurofibromatosis Syndrome 54

Characteristics:

Orphanet epidemiological data:

60
neurofibromatosis-noonan syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
phenotypic overlap between neurofibromatosis type 1 and noonan syndrome


HPO:

33
neurofibromatosis-noonan syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Neurofibromatosis-Noonan Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 638Disease definitionNeurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS).Visit the Orphanet disease page for more resources.

MalaCards based summary : Neurofibromatosis-Noonan Syndrome, also known as nfns, is related to noonan syndrome 1 and neurofibromatosis, type iv, of riccardi. An important gene associated with Neurofibromatosis-Noonan Syndrome is NF1 (Neurofibromin 1), and among its related pathways/superpathways are Ras signaling pathway and MAPK signaling pathway. Affiliated tissues include testes, skin and brain, and related phenotypes are hypertelorism and ptosis

UniProtKB/Swiss-Prot : 76 Neurofibromatosis-Noonan syndrome: Characterized by manifestations of both NF1 and Noonan syndrome (NS). NS is a disorder characterized by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motor delay, and a bleeding diathesis.

Wikipedia : 77 Watson syndrome is an autosomal dominant condition characterized by Lisch nodules of the ocular iris,... more...

Description from OMIM: 601321

Related Diseases for Neurofibromatosis-Noonan Syndrome

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



Diseases related to Neurofibromatosis-Noonan Syndrome

Symptoms & Phenotypes for Neurofibromatosis-Noonan Syndrome

Human phenotypes related to Neurofibromatosis-Noonan Syndrome:

60 33 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 very rare (1%) Very frequent (99-80%) HP:0000316
2 ptosis 60 33 very rare (1%) Very frequent (99-80%) HP:0000508
3 abnormality of the helix 60 33 hallmark (90%) Very frequent (99-80%) HP:0011039
4 short stature 60 33 very rare (1%) Very frequent (99-80%) HP:0004322
5 hypertrophic cardiomyopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001639
6 abdominal wall muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0009023
7 webbed neck 60 33 very rare (1%) Very frequent (99-80%) HP:0000465
8 specific learning disability 60 33 very rare (1%) Very frequent (99-80%) HP:0001328
9 low-set, posteriorly rotated ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000368
10 downslanted palpebral fissures 60 33 very rare (1%) Very frequent (99-80%) HP:0000494
11 multiple cafe-au-lait spots 60 33 very rare (1%) Very frequent (99-80%) HP:0007565
12 pulmonic stenosis 60 33 very rare (1%) Very frequent (99-80%) HP:0001642
13 dysphagia 60 33 frequent (33%) Frequent (79-30%) HP:0002015
14 abnormality of the thorax 60 33 frequent (33%) Frequent (79-30%) HP:0000765
15 cryptorchidism 60 33 very rare (1%) Frequent (79-30%) HP:0000028
16 abnormality of the lymphatic system 60 33 frequent (33%) Frequent (79-30%) HP:0100763
17 prolonged bleeding time 60 33 frequent (33%) Frequent (79-30%) HP:0003010
18 macrocephaly 33 very rare (1%) HP:0000256
19 malar flattening 33 very rare (1%) HP:0000272
20 low-set ears 33 very rare (1%) HP:0000369
21 pectus excavatum 33 very rare (1%) HP:0000767
22 intellectual disability 33 very rare (1%) HP:0001249
23 scoliosis 33 very rare (1%) HP:0002650
24 thick vermilion border 33 very rare (1%) HP:0012471
25 epicanthus 33 very rare (1%) HP:0000286
26 cubitus valgus 33 very rare (1%) HP:0002967
27 low posterior hairline 33 very rare (1%) HP:0002162
28 neuroblastoma 33 very rare (1%) HP:0003006
29 posteriorly rotated ears 33 very rare (1%) HP:0000358
30 plexiform neurofibroma 33 very rare (1%) HP:0009732
31 axillary freckling 33 very rare (1%) HP:0000997
32 lisch nodules 33 very rare (1%) HP:0009737
33 optic nerve glioma 33 very rare (1%) HP:0009734
34 short neck 33 HP:0000470
35 muscle weakness 33 HP:0001324
36 global developmental delay 33 HP:0001263
37 depressed nasal bridge 33 HP:0005280
38 delayed speech and language development 33 HP:0000750
39 abnormality of the face 60 Very frequent (99-80%)
40 midface retrusion 33 HP:0011800
41 secundum atrial septal defect 33 HP:0001684
42 prominent nasolabial fold 33 HP:0005272
43 inguinal freckling 33 HP:0030052
44 pectus excavatum of inferior sternum 33 HP:0000915
45 superior pectus carinatum 33 HP:0000917

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Skeletal Spine:
scoliosis

Genitourinary Internal Genitalia Male:
cryptorchidism

Skin Nails Hair Hair:
low posterior hairline
frontal upsweep of the hair

Skin Nails Hair Skin:
neurofibromas
cafe-au-lait spots
axillary freckling
inguinal freckling

Head And Neck Face:
midface hypoplasia
prominent nasolabial folds

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum superiorly
pectus excavatum inferiorly

Head And Neck Eyes:
hypertelorism
ptosis
downslanting palpebral fissures
epicanthal folds
lisch nodules

Head And Neck Neck:
short neck
webbed neck

Growth Height:
short stature

Skeletal Limbs:
cubitus valgus

Cardiovascular Heart:
pulmonic stenosis

Neoplasia:
neurofibromas
optic glioma
low incidence of plexiform neurofibromas

Neurologic Central Nervous System:
speech delay
developmental delay, mild
articulation defects
unidentified bright objects seen on brain mri

Head And Neck Nose:
low nasal root

Clinical features from OMIM:

601321

MGI Mouse Phenotypes related to Neurofibromatosis-Noonan Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.8 MAP2K2 NF1 PTPN11

Drugs & Therapeutics for Neurofibromatosis-Noonan Syndrome

Search Clinical Trials , NIH Clinical Center for Neurofibromatosis-Noonan Syndrome

Genetic Tests for Neurofibromatosis-Noonan Syndrome

Genetic tests related to Neurofibromatosis-Noonan Syndrome:

# Genetic test Affiliating Genes
1 Neurofibromatosis-Noonan Syndrome 30 NF1

Anatomical Context for Neurofibromatosis-Noonan Syndrome

MalaCards organs/tissues related to Neurofibromatosis-Noonan Syndrome:

42
Testes, Skin, Brain, Bone, Bone Marrow

Publications for Neurofibromatosis-Noonan Syndrome

Articles related to Neurofibromatosis-Noonan Syndrome:

(show all 31)
# Title Authors Year
1
A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia ( 31088041 )
2019
2
Neurofibromatosis-Noonan Syndrome: A Possible Paradigm of the Combination of Genetic and Epigenetic Factors. ( 28971455 )
2017
3
Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome. ( 26758488 )
2016
4
Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome. ( 24357598 )
2014
5
A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype. ( 22965773 )
2012
6
Neurofibromatosis-Noonan syndrome: case report and clinicopathogenic review of the Neurofibromatosis-Noonan syndrome and RAS-MAPK pathway. ( 21549079 )
2011
7
Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. ( 19449407 )
2009
8
Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1. ( 19845691 )
2009
9
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. ( 17160901 )
2007
10
Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype. ( 16542390 )
2006
11
Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. ( 15948193 )
2005
12
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. ( 16380919 )
2005
13
A case of neurofibromatosis-Noonan syndrome with a central giant cell granuloma. ( 15356469 )
2004
14
Different mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS). ( 12707950 )
2003
15
NF1 exon 7 skipping and sequence alterations in exonic splice enhancers (ESEs) in a neurofibromatosis 1 patient. ( 13680360 )
2003
16
Evaluation of genotype-phenotype correlations in neurofibromatosis type 1. ( 14569132 )
2003
17
Listening to silence and understanding nonsense: exonic mutations that affect splicing. ( 11967553 )
2002
18
Predictive identification of exonic splicing enhancers in human genes. ( 12114529 )
2002
19
Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma. ( 11013475 )
2000
20
Neurofibromatosis-Noonan syndrome and acute lymphoblastic leukemia: a report of two cases. ( 10206464 )
1999
21
Neurofibromatosis-Noonan syndrome. ( 9475594 )
1998
22
Noonan syndrome with café-au-lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus. ( 7586657 )
1995
23
Neurofibromatosis-Noonan syndrome. ( 7501563 )
1995
24
Reproductive failure in a patient with neurofibromatosis-Noonan syndrome. ( 8135279 )
1993
25
Clinical variability of type 1 neurofibromatosis: is there a neurofibromatosis-Noonan syndrome? ( 1348094 )
1992
26
Abnormal regulation of mammalian p21ras contributes to malignant tumor growth in von Recklinghausen (type 1) neurofibromatosis. ( 1568246 )
1992
27
The neurofibromatosis-Noonan syndrome: genetic heterogeneity versus clinical variability. Case report and review of the literature. ( 2518512 )
1989
28
Vertical transmission of the neurofibromatosis/Noonan syndrome. ( 3105315 )
1987
29
Evidence that the "neurofibromatosis-Noonan syndrome" is a variant of von Recklinghausen neurofibromatosis. ( 3105316 )
1987
30
The neurofibromatosis-Noonan syndrome. ( 3927725 )
1985
31
The neurofibromatosis-Noonan syndrome. ( 3927726 )
1985

Variations for Neurofibromatosis-Noonan Syndrome

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

76
# Symbol AA change Variation ID SNP ID
1 NF1 p.Lys1444Glu VAR_002659 rs137854550
2 NF1 p.Leu194Arg VAR_032462 rs199474753
3 NF1 p.Asn1451Thr VAR_032475 rs199474754
4 NF1 p.Val1453Leu VAR_032476 rs199474755
5 NF1 p.Leu1411Phe VAR_065236 rs199474789

ClinVar genetic disease variations for Neurofibromatosis-Noonan Syndrome:

6 (show top 50) (show all 258)
# Gene Variation Type Significance SNP ID Assembly Location
1 NF1 NM_000267.3(NF1): c.4267A> G (p.Lys1423Glu) single nucleotide variant Pathogenic rs137854550 GRCh37 Chromosome 17, 29585518: 29585518
2 NF1 NM_000267.3(NF1): c.4267A> G (p.Lys1423Glu) single nucleotide variant Pathogenic rs137854550 GRCh38 Chromosome 17, 31258500: 31258500
3 NF1 NM_000267.3(NF1): c.5839C> T (p.Arg1947Ter) single nucleotide variant Pathogenic rs137854552 GRCh37 Chromosome 17, 29661945: 29661945
4 NF1 NM_000267.3(NF1): c.5839C> T (p.Arg1947Ter) single nucleotide variant Pathogenic rs137854552 GRCh38 Chromosome 17, 31334927: 31334927
5 NF1 NM_000267.3(NF1): c.2970_2972delAAT (p.Met992del) deletion Pathogenic rs267606606 GRCh37 Chromosome 17, 29556972: 29556974
6 NF1 NM_000267.3(NF1): c.2970_2972delAAT (p.Met992del) deletion Pathogenic rs267606606 GRCh38 Chromosome 17, 31229954: 31229956
7 NF1 NM_000267.3(NF1): c.4312_4314delGAA (p.Glu1438del) deletion Likely pathogenic rs267606607 GRCh37 Chromosome 17, 29586092: 29586094
8 NF1 NM_000267.3(NF1): c.4312_4314delGAA (p.Glu1438del) deletion Likely pathogenic rs267606607 GRCh38 Chromosome 17, 31259074: 31259076
9 NF1 NM_000267.3(NF1): c.4095_4096insTG (p.His1366Cysfs) insertion Pathogenic rs267606608 GRCh37 Chromosome 17, 29576122: 29576123
10 NF1 NM_000267.3(NF1): c.4095_4096insTG (p.His1366Cysfs) insertion Pathogenic rs267606608 GRCh38 Chromosome 17, 31249104: 31249105
11 NF1 NM_000267.3(NF1): c.945_946delGCinsAA (p.Leu316Met) indel Pathogenic rs267606609 GRCh37 Chromosome 17, 29527496: 29527497
12 NF1 NM_000267.3(NF1): c.945_946delGCinsAA (p.Leu316Met) indel Pathogenic rs267606609 GRCh38 Chromosome 17, 31200478: 31200479
13 NF1 NM_000267.3(NF1): c.4168C> T (p.Leu1390Phe) single nucleotide variant Pathogenic/Likely pathogenic rs199474789 GRCh37 Chromosome 17, 29585419: 29585419
14 NF1 NM_000267.3(NF1): c.4168C> T (p.Leu1390Phe) single nucleotide variant Pathogenic/Likely pathogenic rs199474789 GRCh38 Chromosome 17, 31258401: 31258401
15 NF1 NM_000267.3(NF1): c.2585C> G (p.Thr862Ser) single nucleotide variant Uncertain significance rs200302954 GRCh37 Chromosome 17, 29556218: 29556218
16 NF1 NM_000267.3(NF1): c.2585C> G (p.Thr862Ser) single nucleotide variant Uncertain significance rs200302954 GRCh38 Chromosome 17, 31229200: 31229200
17 NF1 NM_000267.3(NF1): c.4972A> G (p.Ile1658Val) single nucleotide variant Conflicting interpretations of pathogenicity rs147327414 GRCh37 Chromosome 17, 29653037: 29653037
18 NF1 NM_000267.3(NF1): c.4972A> G (p.Ile1658Val) single nucleotide variant Conflicting interpretations of pathogenicity rs147327414 GRCh38 Chromosome 17, 31326019: 31326019
19 NF1 NM_000267.3(NF1): c.528T> A (p.Asp176Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs112306990 GRCh37 Chromosome 17, 29496957: 29496957
20 NF1 NM_000267.3(NF1): c.528T> A (p.Asp176Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs112306990 GRCh38 Chromosome 17, 31169939: 31169939
21 NF1 NM_000267.3(NF1): c.8042A> T (p.Tyr2681Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs201824349 GRCh37 Chromosome 17, 29685632: 29685632
22 NF1 NM_000267.3(NF1): c.8042A> T (p.Tyr2681Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs201824349 GRCh38 Chromosome 17, 31358614: 31358614
23 NF1 NM_001042492.2(NF1): c.3827G> A (p.Arg1276Gln) single nucleotide variant Pathogenic rs137854556 GRCh37 Chromosome 17, 29562747: 29562747
24 NF1 NM_001042492.2(NF1): c.3827G> A (p.Arg1276Gln) single nucleotide variant Pathogenic rs137854556 GRCh38 Chromosome 17, 31235729: 31235729
25 NF1 NM_001042492.2(NF1): c.7891A> G (p.Thr2631Ala) single nucleotide variant Uncertain significance rs199474793 GRCh37 Chromosome 17, 29684308: 29684308
26 NF1 NM_001042492.2(NF1): c.7891A> G (p.Thr2631Ala) single nucleotide variant Uncertain significance rs199474793 GRCh38 Chromosome 17, 31357290: 31357290
27 NF1 NM_001042492.2(NF1): c.1933A> G (p.Met645Val) single nucleotide variant Benign/Likely benign rs146051850 GRCh38 Chromosome 17, 31225182: 31225182
28 NF1 NM_001042492.2(NF1): c.1933A> G (p.Met645Val) single nucleotide variant Benign/Likely benign rs146051850 GRCh37 Chromosome 17, 29552200: 29552200
29 NF1 NM_001042492.2(NF1): c.8151G> A (p.Pro2717=) single nucleotide variant Benign/Likely benign rs2285895 GRCh37 Chromosome 17, 29686024: 29686024
30 NF1 NM_001042492.2(NF1): c.8151G> A (p.Pro2717=) single nucleotide variant Benign/Likely benign rs2285895 GRCh38 Chromosome 17, 31359006: 31359006
31 NF1 NM_001042492.2(NF1): c.340C> T (p.Leu114=) single nucleotide variant Benign/Likely benign rs7207410 GRCh37 Chromosome 17, 29490255: 29490255
32 NF1 NM_001042492.2(NF1): c.340C> T (p.Leu114=) single nucleotide variant Benign/Likely benign rs7207410 GRCh38 Chromosome 17, 31163237: 31163237
33 NF1 NM_001042492.2(NF1): c.575G> A (p.Arg192Gln) single nucleotide variant Uncertain significance rs587781670 GRCh37 Chromosome 17, 29497004: 29497004
34 NF1 NM_001042492.2(NF1): c.575G> A (p.Arg192Gln) single nucleotide variant Uncertain significance rs587781670 GRCh38 Chromosome 17, 31169986: 31169986
35 NF1 NM_001042492.2(NF1): c.3604G> T (p.Ala1202Ser) single nucleotide variant Uncertain significance rs146641724 GRCh37 Chromosome 17, 29560127: 29560127
36 NF1 NM_001042492.2(NF1): c.3604G> T (p.Ala1202Ser) single nucleotide variant Uncertain significance rs146641724 GRCh38 Chromosome 17, 31233109: 31233109
37 NF1 NM_001042492.2(NF1): c.7520C> T (p.Thr2507Ile) single nucleotide variant Uncertain significance rs149055633 GRCh37 Chromosome 17, 29679337: 29679337
38 NF1 NM_001042492.2(NF1): c.7520C> T (p.Thr2507Ile) single nucleotide variant Uncertain significance rs149055633 GRCh38 Chromosome 17, 31352319: 31352319
39 NF1 NM_001042492.2(NF1): c.1166A> G (p.His389Arg) single nucleotide variant Uncertain significance rs149739570 GRCh37 Chromosome 17, 29528158: 29528158
40 NF1 NM_001042492.2(NF1): c.1166A> G (p.His389Arg) single nucleotide variant Uncertain significance rs149739570 GRCh38 Chromosome 17, 31201140: 31201140
41 NF1 NM_001042492.2(NF1): c.7767G> C (p.Gln2589His) single nucleotide variant Uncertain significance rs587782168 GRCh37 Chromosome 17, 29684006: 29684006
42 NF1 NM_001042492.2(NF1): c.7767G> C (p.Gln2589His) single nucleotide variant Uncertain significance rs587782168 GRCh38 Chromosome 17, 31356988: 31356988
43 NF1 NM_001042492.2(NF1): c.5513C> G (p.Ser1838Cys) single nucleotide variant Uncertain significance rs368654378 GRCh37 Chromosome 17, 29654761: 29654761
44 NF1 NM_001042492.2(NF1): c.5513C> G (p.Ser1838Cys) single nucleotide variant Uncertain significance rs368654378 GRCh38 Chromosome 17, 31327743: 31327743
45 NF1 NM_001042492.2(NF1): c.168C> T (p.Ser56=) single nucleotide variant Benign/Likely benign rs17881168 GRCh38 Chromosome 17, 31156090: 31156090
46 NF1 NM_001042492.2(NF1): c.168C> T (p.Ser56=) single nucleotide variant Benign/Likely benign rs17881168 GRCh37 Chromosome 17, 29483108: 29483108
47 NF1 NM_001042492.2(NF1): c.369C> G (p.Thr123=) single nucleotide variant Benign/Likely benign rs146691765 GRCh38 Chromosome 17, 31163266: 31163266
48 NF1 NM_001042492.2(NF1): c.369C> G (p.Thr123=) single nucleotide variant Benign/Likely benign rs146691765 GRCh37 Chromosome 17, 29490284: 29490284
49 NF1 NM_001042492.2(NF1): c.702G> A (p.Leu234=) single nucleotide variant Benign/Likely benign rs1801052 GRCh37 Chromosome 17, 29508775: 29508775
50 NF1 NM_001042492.2(NF1): c.702G> A (p.Leu234=) single nucleotide variant Benign/Likely benign rs1801052 GRCh38 Chromosome 17, 31181757: 31181757

Expression for Neurofibromatosis-Noonan Syndrome

Search GEO for disease gene expression data for Neurofibromatosis-Noonan Syndrome.

Pathways for Neurofibromatosis-Noonan Syndrome

Pathways related to Neurofibromatosis-Noonan Syndrome according to KEGG:

38
# Name Kegg Source Accession
1 Ras signaling pathway hsa04014
2 MAPK signaling pathway hsa04010

Pathways related to Neurofibromatosis-Noonan Syndrome according to GeneCards Suite gene sharing:

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.25 MAP2K2 NF1 PTPN11
2 11.81 MAP2K2 PTPN11
3
Show member pathways
11.8 MAP2K2 PTPN11
4
Show member pathways
11.76 MAP2K2 PTPN11
5 11.73 MAP2K2 PTPN11
6
Show member pathways
11.7 MAP2K2 NF1
7
Show member pathways
11.68 MAP2K2 PTPN11
8
Show member pathways
11.57 MAP2K2 PTPN11
9 11.57 MAP2K2 NF1
10
Show member pathways
11.52 MAP2K2 NF1 PTPN11
11
Show member pathways
11.5 MAP2K2 PTPN11
12 11.48 MAP2K2 PTPN11
13
Show member pathways
11.23 MAP2K2 NF1
14 11.11 MAP2K2 NF1
15 11.08 MAP2K2 PTPN11
16 11.01 MAP2K2 PTPN11
17 10.97 MAP2K2 PTPN11
18
Show member pathways
10.88 MAP2K2 PTPN11
19 10.85 MAP2K2 NF1 PTPN11
20
Show member pathways
10.8 MAP2K2 PTPN11
21 10.67 MAP2K2 PTPN11

GO Terms for Neurofibromatosis-Noonan Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 activation of MAPK activity GO:0000187 8.62 MAP2K2 PTPN11

Sources for Neurofibromatosis-Noonan Syndrome

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