Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

NSLH1 MCID: NNN028 MIFTS: 49	Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 (NSLH1) Categories: Cardiovascular diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

MalaCards integrated aliases for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1:

Name: Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 ⁵⁷ ¹² ⁷² ²⁹ ⁶ ¹⁵

Mazzanti Syndrome ⁵⁷ ⁷² ⁶

Tosti Syndrome ⁵⁷ ⁷²

Nslh1 ⁵⁷ ⁷²

Nslh ⁵⁷ ⁷²

Noonan Syndrome-Like Disorder with Loose Anagen Hair ⁷⁰

Noonan Syndrome-Like with Loose Anagen Hair 1 ⁵⁷

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

Inheritance:
autosomal dominant

Miscellaneous:
intra- and interfamilial clinical variability

HPO:

³¹

noonan syndrome-like disorder with loose anagen hair 1:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Eye diseases Cardiovascular diseases Skin diseases Ear diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0080692

OMIM® ⁵⁷ 607721

OMIM Phenotypic Series ⁵⁷ PS163950 PS607721

MeSH ⁴⁴ D019465

MedGen ⁴¹ C1843181 C4478716

UMLS ⁷⁰ C1843181

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Summaries for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

OMIM® : ⁵⁷ Noonan syndrome-like disorder with loose anagen hair is characterized by facial features similar to those observed in Noonan syndrome (163950), including hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly angulated ears, and overfolded pinnae. In addition, patients display short stature, frequently with growth hormone (GH; see 139250) deficiency; cognitive deficits; relative macrocephaly; small posterior fossa resulting in Chiari I malformation; hypernasal voice; cardiac defects, especially dysplasia of the mitral valve and septal defects; and ectodermal abnormalities, in which the most characteristic feature is the hair anomaly, including easily pluckable, sparse, thin, slow-growing hair (summary by Bertola et al., 2017). (607721) (Updated 20-May-2021)

MalaCards based summary : Noonan Syndrome-Like Disorder with Loose Anagen Hair 1, also known as mazzanti syndrome, is related to exanthem and noonan syndrome-like disorder with loose anagen hair. An important gene associated with Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 is SHOC2 (SHOC2 Leucine Rich Repeat Scaffold Protein), and among its related pathways/superpathways are DAG and IP3 signaling and Downstream signaling of activated FGFR2. Affiliated tissues include eye, lung and myeloid, and related phenotypes are ichthyosis and joint laxity

Disease Ontology : ¹² A Noonan-like syndrome with loose anagen hair that has material basis in heterozygous mutation in the SHOC2 gene on chromosome 10q25.

UniProtKB/Swiss-Prot : ⁷² Noonan syndrome-like disorder with loose anagen hair 1: A syndrome characterized by Noonan dysmorphic features such as macrocephaly, high forehead, hypertelorism, palpebral ptosis, low-set and posteriorly rotated ears, short and webbed neck, pectus anomalies, in association with pluckable, sparse, thin and slow-growing hair.

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Related Diseases for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

Diseases in the Noonan Syndrome-Like Disorder with Loose Anagen Hair family:

Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

Noonan Syndrome-Like Disorder with Loose Anagen Hair 2

Diseases related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 136)

#	Related Disease	Score	Top Affiliating Genes
1	exanthem	30.4	KRAS HRAS
2	noonan syndrome-like disorder with loose anagen hair	29.6	SHOC2 PTPN11 KRAS HRAS
3	rasopathy	29.6	SHOC2 PTPN11 KRAS HRAS
4	pseudo-turner syndrome	29.6	SHOC2 PTPN11 KRAS HRAS
5	noonan syndrome 1	29.6	SHOC2 PTPN11 KRAS HRAS
6	hypertrophic cardiomyopathy	29.6	SHOC2 PTPN11 KRAS HRAS
7	systemic lupus erythematosus	10.4
8	lupus erythematosus	10.4
9	testicular spermatocytic seminoma	10.0	PTPN11 HRAS
10	skin granular cell tumor	10.0	SHOC2 PTPN11
11	growth hormone deficiency	10.0
12	noonan syndrome-like disorder with loose anagen hair 2	10.0	SHOC2 PTPN11
13	legius syndrome	10.0	PTPN11 HRAS
14	myelodysplastic/myeloproliferative neoplasm	10.0	PTPN11 HRAS
15	heart septal defect	9.9	SHOC2 PTPN11
16	patent ductus arteriosus 1	9.9	SHOC2 PTPN11
17	hepatic flexure cancer	9.9	KRAS HRAS
18	trachea carcinoma in situ	9.9	KRAS HRAS
19	signet ring basal cell carcinoma	9.9	KRAS HRAS
20	cobblestone retinal degeneration	9.9	KRAS HRAS
21	immature teratoma of ovary	9.9	KRAS HRAS
22	pancreatic signet ring cell adenocarcinoma	9.9	KRAS HRAS
23	signet ring cell adenocarcinoma	9.9	KRAS HRAS
24	descending colon cancer	9.9	KRAS HRAS
25	ampulla of vater benign neoplasm	9.9	KRAS HRAS
26	transverse colon cancer	9.9	KRAS HRAS
27	periampullary adenoma	9.9	KRAS HRAS
28	bone giant cell sarcoma	9.9	KRAS HRAS
29	acneiform dermatitis	9.9	KRAS HRAS
30	appendiceal neoplasm	9.9	KRAS HRAS
31	gallbladder benign neoplasm	9.9	KRAS HRAS
32	adenosquamous lung carcinoma	9.9	KRAS HRAS
33	appendix adenocarcinoma	9.9	KRAS HRAS
34	mucinous lung adenocarcinoma	9.9	KRAS HRAS
35	wolffian duct adenocarcinoma	9.9	KRAS HRAS
36	myh-associated polyposis	9.9	KRAS HRAS
37	ascending colon cancer	9.9	KRAS HRAS
38	biliary tract benign neoplasm	9.9	KRAS HRAS
39	ovarian mucinous neoplasm	9.9	KRAS HRAS
40	malignant exocrine pancreas neoplasm	9.9	KRAS HRAS
41	pancreatic acinar cell adenocarcinoma	9.9	KRAS HRAS
42	paronychia	9.9	KRAS HRAS
43	appendix disease	9.9	KRAS HRAS
44	bile duct cysts	9.9	KRAS HRAS
45	lung carcinoma in situ	9.9	KRAS HRAS
46	small intestine adenocarcinoma	9.9	KRAS HRAS
47	papillary adenoma	9.9	KRAS HRAS
48	ethmoid sinus adenocarcinoma	9.9	KRAS HRAS
49	appendix cancer	9.9	KRAS HRAS
50	duodenum adenocarcinoma	9.9	KRAS HRAS

Graphical network of the top 20 diseases related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 1:

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Symptoms & Phenotypes for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

Human phenotypes related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 1:

³¹ (show all 28)

#	Description	HPO Frequency	HPO Source Accession
1	ichthyosis ³¹	occasional (7.5%)	HP:0008064
2	joint laxity ³¹	occasional (7.5%)	HP:0001388
3	nasal speech ³¹	occasional (7.5%)	HP:0001611
4	eczema ³¹	occasional (7.5%)	HP:0000964
5	long eyelashes ³¹	occasional (7.5%)	HP:0000527
6	hypoplasia of the corpus callosum ³¹	occasional (7.5%)	HP:0002079
7	feeding difficulties ³¹	occasional (7.5%)	HP:0011968
8	deep palmar crease ³¹	occasional (7.5%)	HP:0006191
9	generalized hypotonia ³¹	occasional (7.5%)	HP:0001290
10	keratosis pilaris ³¹	very rare (1%)	HP:0032152
11	macrocephaly ³¹		HP:0000256
12	intellectual disability ³¹		HP:0001249
13	short neck ³¹		HP:0000470
14	hypertelorism ³¹		HP:0000316
15	short stature ³¹		HP:0004322
16	prominent forehead ³¹		HP:0011220
17	strabismus ³¹		HP:0000486
18	low-set ears ³¹		HP:0000369
19	webbed neck ³¹		HP:0000465
20	atrial septal defect ³¹		HP:0001631
21	hypertrophic cardiomyopathy ³¹		HP:0001639
22	polyhydramnios ³¹		HP:0001561
23	sparse scalp hair ³¹		HP:0002209
24	ventricular septal defect ³¹		HP:0001629
25	pulmonic stenosis ³¹		HP:0001642
26	posteriorly rotated ears ³¹		HP:0000358
27	hyperactivity ³¹		HP:0000752
28	loose anagen hair ³¹		HP:0040169

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

Head And Neck Head:
macrocephaly

Head And Neck Eyes:
ptosis
hypertelorism
strabismus
long eyelashes
downslanting palpebral fissures
more

Growth Height:
short stature

Head And Neck Face:
prominent forehead
broad forehead

Cardiovascular Heart:
atrial septal defect
hypertrophic cardiomyopathy
ventricular septal defect
pulmonic stenosis
mitral/tricuspid valve dysplasia
more

Skin Nails Hair Hair:
sparse scalp hair
slow-growing scalp hair
loose anagen hair
absent scalp hair

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity

Skin Nails Hair Nails:
clubbing

Head And Neck Mouth:
high-arched palate

Neurologic Central Nervous System:
mental retardation
delayed independent walking
thin corpus callosum
decreased white matter volume
vertical tentorium
more

Chest Ribs Sternum Clavicles And Scapulae:
pectus anomalies

Growth Other:
failure to thrive

Head And Neck Neck:
short neck
webbed neck

Skin Nails Hair Skin:
ichthyosis
eczema
keratosis pilaris
deep palmar creases
darkly pigmented skin
more

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

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Abdomen Gastrointestinal:
feeding difficulties

Skeletal:
ligamentous laxity

Muscle Soft Tissue:
hypotonia

Growth Weight:
increased birth weight

Voice:
hypernasal voice

Endocrine Features:
low or absent growth hormone

Clinical features from OMIM®:

607721 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Reduced mammosphere formation	GR00396-S	8.92	HRAS KRAS PTPN11 SHOC2

MGI Mouse Phenotypes related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 1:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	integument	MP:0010771	9.46	HRAS KRAS PTPN11 SHOC2
2	normal	MP:0002873	9.26	HRAS KRAS PTPN11 SHOC2
3	respiratory system	MP:0005388	8.92	HRAS KRAS PTPN11 SHOC2

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Drugs & Therapeutics for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

Search Clinical Trials , NIH Clinical Center for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

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Genetic Tests for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

Genetic tests related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 1:

#	Genetic test	Affiliating Genes
1	Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 ²⁹	SHOC2

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Anatomical Context for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

MalaCards organs/tissues related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 1:

⁴⁰

Eye, Lung, Myeloid, Colon, Ovary, Appendix, Heart

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Publications for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

Articles related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 1:

(show all 17)

#	Title	Authors	PMID	Year
1	Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy. ⁵⁷ ⁶	Motta M...De Luca A	31059601	2019
2	SHOC2-MRAS-PP1 complex positively regulates RAF activity and contributes to Noonan syndrome pathogenesis. ⁶ ⁵⁷	Young LC...Rodriguez-Viciana P	30348783	2018
3	A Novel SHOC2 Variant in Rasopathy. ⁶ ⁵⁷	Hannig V...Galperin E	25137548	2014
4	Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis. ⁶ ⁵⁷	Gripp KW...Sol-Church K	23918763	2013
5	Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant. ⁶ ⁵⁷	Hoban R...Shephard B	22528146	2012
6	Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies. ⁵⁷ ⁶	Komatsuzaki S...Matsubara Y	20882035	2010
7	Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. ⁶ ⁵⁷	Cordeddu V...Tartaglia M	19684605	2009
8	The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype. ⁵⁷	Bertola D...Kim C	28211982	2017
9	Moyamoya syndrome in a patient with Noonan-like syndrome with loose anagen hair. ⁶	Choi JH...Yoo HW	25563136	2015
10	Coarctation of the aorta in Noonan-like syndrome with loose anagen hair. ⁶	Zmolikova M...Krepelova A	24458596	2014
11	Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation. ⁶	Gargano G...Garavelli L	24458587	2014
12	Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype. ⁶	Ekvall S...Bondeson ML	21548061	2011
13	Noonan-like syndrome with loose anagen hair: a new syndrome? ⁵⁷	Mazzanti L...Forabosco A	12673660	2003
14	Loose anagen hair. ⁵⁷	Tosti A...Fanti PA	9301585	1997
15	Loose anagen hair in a child with Noonan's syndrome. ⁵⁷	Tosti A...Patrizi A	1884862	1991
16	Cleft palate and hypopituitarism in a patient with Noonan-like syndrome with loose anagen hair-1. ⁶¹	Couser NL...Aylsworth AS	30240112	2018
17	Systemic lupus erythematosus in a patient with Noonan syndrome-like disorder with loose anagen hair 1: More than a chance association. ⁶¹	Uehara T...Kosaki K	29737035	2018

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Genes for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

Genes related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SHOC2	SHOC2 Leucine Rich Repeat Scaffold Protein	Protein Coding	1362.42	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	25137548 30348783
2	PTPN11	Protein Tyrosine Phosphatase Non-Receptor Type 11	Protein Coding	4.55	DISEASES inferred ¹⁵
3	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	3.64	DISEASES inferred ¹⁵
4	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	3.51	DISEASES inferred ¹⁵

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Variations for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

ClinVar genetic disease variations for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1:

⁶ (show top 50) (show all 71)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	SHOC2	NM_007373.3(SHOC2):c.519G>A (p.Met173Ile)	SNV	Pathogenic	181528	rs730881020	GRCh37: 10:112724635-112724635 GRCh38: 10:110964877-110964877
2	SHOC2	NM_007373.4(SHOC2):c.807_808delinsTT (p.Gln269_His270delinsHisTyr)	Indel	Pathogenic	973849		GRCh37: 10:112745489-112745490 GRCh38: 10:110985731-110985732
3	SHOC2	NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)	SNV	Pathogenic	6821	rs267607048	GRCh37: 10:112724120-112724120 GRCh38: 10:110964362-110964362
4	SHOC2	NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)	SNV	Pathogenic	6821	rs267607048	GRCh37: 10:112724120-112724120 GRCh38: 10:110964362-110964362
5	SHOC2	NM_007373.4(SHOC2):c.1439A>C (p.Asn480Thr)	SNV	Likely pathogenic	976139		GRCh37: 10:112769487-112769487 GRCh38: 10:111009729-111009729
6	SHOC2	NM_007373.4(SHOC2):c.506_507delinsC (p.Lys169fs)	Indel	Uncertain significance	1030214		GRCh37: 10:112724622-112724623 GRCh38: 10:110964864-110964865
7	SHOC2	NM_007373.4(SHOC2):c.836C>T (p.Thr279Ile)	SNV	Uncertain significance	1030215		GRCh37: 10:112745518-112745518 GRCh38: 10:110985760-110985760
8	SHOC2	NM_007373.4(SHOC2):c.*685C>T	SNV	Uncertain significance	879705		GRCh37: 10:112772261-112772261 GRCh38: 10:111012503-111012503
9	SHOC2	NM_007373.4(SHOC2):c.*825G>A	SNV	Uncertain significance	879706		GRCh37: 10:112772401-112772401 GRCh38: 10:111012643-111012643
10	SHOC2	NM_001324336.2(SHOC2):c.-235+105T>G	SNV	Uncertain significance	880483		GRCh37: 10:112679304-112679304 GRCh38: 10:110919546-110919546
11	SHOC2	NM_007373.4(SHOC2):c.-264A>T	SNV	Uncertain significance	880484		GRCh37: 10:112679386-112679386 GRCh38: 10:110919628-110919628
12	SHOC2	NM_007373.4(SHOC2):c.-259G>A	SNV	Uncertain significance	880485		GRCh37: 10:112679391-112679391 GRCh38: 10:110919633-110919633
13	SHOC2	NM_007373.3(SHOC2):c.*1487G>T	SNV	Uncertain significance	298885	rs7074770	GRCh37: 10:112773063-112773063 GRCh38: 10:111013305-111013305
14	SHOC2	NM_007373.3(SHOC2):c.-254C>T	SNV	Uncertain significance	298859	rs886046728	GRCh37: 10:112679396-112679396 GRCh38: 10:110919638-110919638
15	SHOC2	NM_007373.3(SHOC2):c.*656C>G	SNV	Uncertain significance	298871	rs557334390	GRCh37: 10:112772232-112772232 GRCh38: 10:111012474-111012474
16	SHOC2	NM_007373.4(SHOC2):c.*1381G>C	SNV	Uncertain significance	878792		GRCh37: 10:112772957-112772957 GRCh38: 10:111013199-111013199
17	SHOC2	NM_007373.4(SHOC2):c.*1508G>T	SNV	Uncertain significance	878793		GRCh37: 10:112773084-112773084 GRCh38: 10:111013326-111013326
18	SHOC2	NM_007373.3(SHOC2):c.*1245T>C	SNV	Uncertain significance	298879	rs754913685	GRCh37: 10:112772821-112772821 GRCh38: 10:111013063-111013063
19	SHOC2	NM_007373.3(SHOC2):c.1284+15G>A	SNV	Uncertain significance	298863	rs770745229	GRCh37: 10:112767426-112767426 GRCh38: 10:111007668-111007668
20	SHOC2	NM_007373.3(SHOC2):c.*404A>G	SNV	Uncertain significance	298866	rs539394184	GRCh37: 10:112771980-112771980 GRCh38: 10:111012222-111012222
21	SHOC2	NM_007373.3(SHOC2):c.*1486dup	Duplication	Uncertain significance	298883	rs549502834	GRCh37: 10:112773061-112773062 GRCh38: 10:111013303-111013304
22	SHOC2	NM_007373.3(SHOC2):c.*614T>G	SNV	Uncertain significance	298869	rs886046732	GRCh37: 10:112772190-112772190 GRCh38: 10:111012432-111012432
23	SHOC2	NM_007373.3(SHOC2):c.774A>G (p.Gly258=)	SNV	Uncertain significance	298862	rs753237615	GRCh37: 10:112745456-112745456 GRCh38: 10:110985698-110985698
24	SHOC2	NM_007373.3(SHOC2):c.1422+9_1422+11del	Deletion	Uncertain significance	298864	rs750754038	GRCh37: 10:112769150-112769152 GRCh38: 10:111009392-111009394
25	SHOC2	NM_007373.3(SHOC2):c.*958C>A	SNV	Uncertain significance	298875	rs372493479	GRCh37: 10:112772534-112772534 GRCh38: 10:111012776-111012776
26	SHOC2	NM_007373.3(SHOC2):c.*1218C>T	SNV	Uncertain significance	298878	rs886046735	GRCh37: 10:112772794-112772794 GRCh38: 10:111013036-111013036
27	SHOC2	NM_007373.3(SHOC2):c.*1324G>A	SNV	Uncertain significance	298881	rs559572636	GRCh37: 10:112772900-112772900 GRCh38: 10:111013142-111013142
28	SHOC2	NM_007373.3(SHOC2):c.*1575A>G	SNV	Uncertain significance	298887	rs886046736	GRCh37: 10:112773151-112773151 GRCh38: 10:111013393-111013393
29	SHOC2	NM_007373.3(SHOC2):c.701T>C (p.Ile234Thr)	SNV	Uncertain significance	298860	rs751292868	GRCh37: 10:112724817-112724817 GRCh38: 10:110965059-110965059
30	SHOC2	NM_007373.3(SHOC2):c.*625del	Deletion	Uncertain significance	298870	rs886046733	GRCh37: 10:112772192-112772192 GRCh38: 10:111012434-111012434
31	SHOC2	NM_007373.3(SHOC2):c.*518T>C	SNV	Uncertain significance	298868	rs886046731	GRCh37: 10:112772094-112772094 GRCh38: 10:111012336-111012336
32	SHOC2	NM_007373.3(SHOC2):c.355A>G (p.Ile119Val)	SNV	Uncertain significance	181527	rs147068827	GRCh37: 10:112724471-112724471 GRCh38: 10:110964713-110964713
33	SHOC2	NM_007373.3(SHOC2):c.74A>G (p.Glu25Gly)	SNV	Uncertain significance	40637	rs730881019	GRCh37: 10:112724190-112724190 GRCh38: 10:110964432-110964432
34	SHOC2	NM_007373.3(SHOC2):c.-244G>T	SNV	Uncertain significance	139105	rs192673935	GRCh37: 10:112679406-112679406 GRCh38: 10:110919648-110919648
35	SHOC2	NM_007373.4(SHOC2):c.-235+15A>G	SNV	Uncertain significance	877713		GRCh37: 10:112679430-112679430 GRCh38: 10:110919672-110919672
36	SHOC2	NM_007373.3(SHOC2):c.-114C>G	SNV	Uncertain significance	40633		GRCh37: 10:112724003-112724003 GRCh38: 10:110964245-110964245
37	SHOC2	NM_007373.3(SHOC2):c.32C>A (p.Ser11Tyr)	SNV	Uncertain significance	496406	rs1381863749	GRCh37: 10:112724148-112724148 GRCh38: 10:110964390-110964390
38	SHOC2	NM_007373.4(SHOC2):c.56C>G (p.Pro19Arg)	SNV	Uncertain significance	877714		GRCh37: 10:112724172-112724172 GRCh38: 10:110964414-110964414
39	SHOC2	NM_007373.4(SHOC2):c.*979C>T	SNV	Uncertain significance	877760		GRCh37: 10:112772555-112772555 GRCh38: 10:111012797-111012797
40	SHOC2	NM_007373.4(SHOC2):c.*990T>G	SNV	Uncertain significance	877761		GRCh37: 10:112772566-112772566 GRCh38: 10:111012808-111012808
41	SHOC2	NM_007373.4(SHOC2):c.*1269A>G	SNV	Uncertain significance	877762		GRCh37: 10:112772845-112772845 GRCh38: 10:111013087-111013087
42	SHOC2	NM_007373.4(SHOC2):c.1215A>G (p.Val405=)	SNV	Likely benign	878756		GRCh37: 10:112767342-112767342 GRCh38: 10:111007584-111007584
43	SHOC2	NM_007373.3(SHOC2):c.*1062dup	Duplication	Likely benign	298876	rs530047047	GRCh37: 10:112772637-112772638 GRCh38: 10:111012879-111012880
44	SHOC2	NM_007373.3(SHOC2):c.506_509del	Deletion	Likely benign	298867	rs371679867	GRCh37: 10:112772082-112772085 GRCh38: 10:111012324-111012327
45	SHOC2	NM_007373.3(SHOC2):c.703+15ATT[3]	Microsatellite	Likely benign	298861	rs370351651	GRCh37: 10:112724834-112724836 GRCh38: 10:110965076-110965078
46	SHOC2	NM_007373.3(SHOC2):c.38A>C (p.Glu13Ala)	SNV	Likely benign	181526	rs730881018	GRCh37: 10:112724154-112724154 GRCh38: 10:110964396-110964396
47	SHOC2	NM_007373.3(SHOC2):c.*1775del	Deletion	Likely benign	298888	rs527775221	GRCh37: 10:112773342-112773342 GRCh38: 10:111013584-111013584
48	SHOC2	NM_007373.3(SHOC2):c.*164T>A	SNV	Benign	298865	rs191293913	GRCh37: 10:112771740-112771740 GRCh38: 10:111011982-111011982
49	SHOC2	NM_007373.3(SHOC2):c.*16C>A	SNV	Benign	378581	rs753327392	GRCh37: 10:112771592-112771592 GRCh38: 10:111011834-111011834
50	SHOC2	NM_007373.4(SHOC2):c.*20C>T	SNV	Benign	879344		GRCh37: 10:112771596-112771596 GRCh38: 10:111011838-111011838

UniProtKB/Swiss-Prot genetic disease variations for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1:

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	SHOC2	p.Ser2Gly	VAR_060199	rs267607048
2	SHOC2	p.Met173Ile	VAR_074030	rs730881020

Sources

Expression for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

Search GEO for disease gene expression data for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1.

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Pathways for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

Pathways related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 according to GeneCards Suite gene sharing:

(show top 50) (show all 76)

#	Super pathways	Score	Top Affiliating Genes
1	DAG and IP3 signaling ⁶⁵ Show member pathways Beta-2 adrenergic-dependent CFTR expression ²³ Ca-dependent events ⁶⁵ Calmodulin induced events ⁶⁵ CaM pathway ⁶⁵ Cam-PDE 1 activation ⁶⁵ CREB phosphorylation through the activation of Adenylate Cyclase ⁶⁵ Development Beta-adrenergic receptors signaling via cAMP ²³ Development Role of Activin A in cell differentiation and proliferation ²³ EGFR interacts with phospholipase C-gamma ⁶⁵ G Protein Signaling Pathways ¹ G-protein mediated events ⁶⁵ Inhibitory action of Lipoxin A4 on PDGF, EGF and LTD4 signaling ²³ Neurophysiological process PGE2-induced pain processing ²³ Opioid Signalling ⁶⁵ PKA activation ⁶⁵ PKA activation in glucagon signalling ⁶⁵ PKA-mediated phosphorylation of CREB ⁶⁵ PLC beta mediated events ⁶⁵ PLC-gamma1 signalling ⁶⁵ Signal transduction Calcium signaling ²³	12.84	PTPN11 KRAS HRAS
2	Downstream signaling of activated FGFR2 ⁶⁵ Show member pathways Activated point mutants of FGFR2 ⁶⁵ betaKlotho-mediated ligand binding ⁶⁵ Downstream signaling of activated FGFR1 ⁶⁵ Downstream signaling of activated FGFR3 ⁶⁵ Downstream signaling of activated FGFR4 ⁶⁵ FGFR2c ligand binding and activation ⁶⁵ FGFR4 ligand binding and activation ⁶⁵ FGFR4 mutant receptor activation ⁶⁵ FRS-mediated FGFR1 signaling ⁶⁵ FRS-mediated FGFR2 signaling ⁶⁵ FRS-mediated FGFR3 signaling ⁶⁵ FRS-mediated FGFR4 signaling ⁶⁵ Phospholipase C-mediated cascade- FGFR1 ⁶⁵ Phospholipase C-mediated cascade; FGFR2 ⁶⁵ Phospholipase C-mediated cascade; FGFR3 ⁶⁵ Phospholipase C-mediated cascade; FGFR4 ⁶⁵ PI-3K cascade-FGFR1 ⁶⁵ PI-3K cascade-FGFR2 ⁶⁵ PI-3K cascade-FGFR3 ⁶⁵ PI-3K cascade-FGFR4 ⁶⁵ SHC-mediated cascade-FGFR1 ⁶⁵ SHC-mediated cascade-FGFR2 ⁶⁵ SHC-mediated cascade-FGFR3 ⁶⁵ SHC-mediated cascade-FGFR4 ⁶⁵ Signaling by FGFR3 fusions in cancer ⁶⁵ Signaling by FGFR3 in disease ⁶⁵ Signaling by FGFR3 point mutants in cancer ⁶⁵ Signaling by FGFR4 in disease ⁶⁵	12.63	PTPN11 KRAS HRAS
3	Regulation of lipid metabolism Insulin signaling-generic cascades ²³ Show member pathways acetyl-CoA biosynthesis from citrate ¹ Butyrate-induced histone acetylation ¹ Cell adhesion PLAU signaling ²³ Class IB PI3K non-lipid kinase events ¹ Development CNTF receptor signaling ²³ Development Growth hormone signaling via PI3K/AKT and MAPK cascades ²³ Insulin signaling pathway ³⁶ Transcription Receptor-mediated HIF regulation ²³ Translation Regulation of EIF2 activity ²³ Translation Regulation of EIF4F activity ²³ Translation Insulin regulation of translation ²³	12.62	PTPN11 KRAS HRAS
4	Endometrial cancer ³⁶ Show member pathways Binding of TCF/LEF-CTNNB1 to target gene promoters ⁶⁵ Chronic myeloid leukemia ³⁶ Colorectal cancer ³⁶ Pancreatic cancer ³⁶ Prostate cancer ³⁶ Signal transduction PTEN pathway ²³ Thyroid cancer ³⁶	12.57	PTPN11 KRAS HRAS
5	IL-9 Signaling Pathways ⁶⁴ Show member pathways Adipokines and Insulin Signaling Pathways ⁶⁴ Common Cytokine Receptor Gamma-Chain Family Signaling Pathways ⁶⁴ Development Thrombopoietin-regulated cell processes ²³ IL-15 Signaling Pathways ⁶⁴ IL-2 Signaling Pathways ⁶⁴ IL-21 Signaling Pathways ⁶⁴ IL-4 Signaling Pathways ⁶⁴ IL-7 Signaling Pathways ⁶⁴ IL-9 Pathway ⁶³ Immune response IL-9 signaling pathway ²³	12.55	PTPN11 KRAS HRAS
6	Downstream signaling events of B Cell Receptor (BCR) ⁶⁵ Show member pathways Activation of RAS in B cells ⁶⁵ Signaling by the B Cell Receptor (BCR) ⁶⁵	12.51	PTPN11 KRAS HRAS
7	Development HGF signaling pathway ²³ Show member pathways Apoptosis and survival Anti-apoptotic action of membrane-bound ESR1 ²³ Apoptosis and survival NGF signaling pathway ²³ Apoptosis and survival Role of CDK5 in neuronal death and survival ²³ Development Neurotrophin family signaling ²³ MET activates STAT3 ⁶⁵ Neurotrophin signaling pathway ³⁶ Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met) ¹ Signaling of Hepatocyte Growth Factor Receptor ¹	12.49	PTPN11 KRAS HRAS
8	T cell receptor signaling pathway ³⁶ Show member pathways PD-L1 expression and PD-1 checkpoint pathway in cancer ³⁶ T-Cell antigen Receptor (TCR) Signaling Pathway ¹ T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection ¹	12.38	PTPN11 KRAS HRAS
9	Immune response IL-23 signaling pathway ²³ Show member pathways Angiopoietin receptor Tie2-mediated signaling ¹ Angiopoietin-TIE2 Signaling ⁶³ Development Angiopoietin - Tie2 signaling ²³ Development PDGF signaling via STATs and NF-kB ²³ IL23-mediated signaling events ¹ Immune response IL-10 signaling pathway ²³ Rac1/Pak1/p38/MMP-2 pathway ¹	12.37	PTPN11 KRAS HRAS
10	Immune response Fc epsilon RI pathway ²³ Show member pathways Fc epsilon RI signaling pathway ³⁶ Fc-epsilon receptor I signaling in mast cells ¹ Immune response BCR pathway ²³ VEGF signaling pathway ³⁶	12.36	PTPN11 KRAS HRAS
11	Negative regulation of FGFR1 signaling ⁶⁵ Show member pathways FGFR1 ligand binding and activation ⁶⁵ FGFR1b ligand binding and activation ⁶⁵ FGFR1c and Klotho ligand binding and activation ⁶⁵ FGFR1c ligand binding and activation ⁶⁵ FGFRL1 modulation of FGFR1 signaling ⁶⁵ Negative regulation of FGFR2 signaling ⁶⁵ Negative regulation of FGFR3 signaling ⁶⁵ Negative regulation of FGFR4 signaling ⁶⁵ Signaling by activated point mutants of FGFR1 ⁶⁵ Signaling by FGFR1 ⁶⁵ Signaling by FGFR1 amplification mutants ⁶⁵ Signaling by FGFR3 ⁶⁵ Signaling by FGFR4 ⁶⁵ Spry regulation of FGF signaling ⁶⁵	12.35	PTPN11 KRAS HRAS
12	Immune response Role of DAP12 receptors in NK cells ²³ Show member pathways Immune response CD16 signaling in NK cells ²³ Natural killer cell mediated cytotoxicity ³⁶	12.27	PTPN11 KRAS HRAS
13	MET promotes cell motility ⁶⁵ Show member pathways Alpha 6 Beta 4 signaling pathway ¹ Laminin interactions ⁶⁵ MET activates PTK2 signaling ⁶⁵ MET activates RAP1 and RAC1 ⁶⁵ MET activates RAS signaling ⁶⁵ MET interacts with TNS proteins ⁶⁵ MET Receptor Activation ⁶⁵ MET receptor recycling ⁶⁵ Non-integrin membrane-ECM interactions ⁶⁵ Signaling by MET ⁶⁵ Syndecan interactions ⁶⁵	12.25	PTPN11 KRAS HRAS
14	Prolactin Signaling Pathway ¹ ³⁶ Show member pathways Development Prolactin receptor signaling ²³ Leptin signaling pathway ¹	12.24	PTPN11 KRAS HRAS
15	B Cell Receptor Signaling Pathway (sino) ⁶⁶ Show member pathways T Cell Receptor Signaling Pathway ⁶⁶	12.19	PTPN11 KRAS HRAS
16	B cell receptor signaling pathway (KEGG) ³⁶ Show member pathways B Cell Receptor Signaling Pathway ¹ BCR signaling pathway ¹	12.14	PTPN11 KRAS HRAS
17	Phospholipase D signaling pathway ³⁶ Show member pathways Choline metabolism in cancer ³⁶	12.13	PTPN11 KRAS HRAS
18	Development VEGF signaling via VEGFR2 - generic cascades ²³ Show member pathways Development VEGF signaling and activation ²³ VEGF - VEGF R2 Signaling Pathways ⁶⁴	12.12	PTPN11 KRAS HRAS
19	Development FGFR signaling pathway ²³ Show member pathways Development FGF-family signaling ²³ Development Flt3 signaling ²³ FGF Pathway ⁶³	12.11	PTPN11 KRAS HRAS
20	Ras signaling pathway ³⁶ Show member pathways Rap1 signaling pathway ³⁶	12.1	SHOC2 PTPN11 KRAS HRAS
21	Proteoglycans in cancer ³⁶	12.02	PTPN11 KRAS HRAS
22	Signaling by FGFR2 ⁶⁵ Show member pathways FGFR2 ligand binding and activation ⁶⁵ FGFR2b ligand binding and activation ⁶⁵ Signaling by FGFR ⁶⁵	11.97	PTPN11 KRAS HRAS
23	G-protein signaling Ras family GTPases in kinase cascades (scheme) ²³ Show member pathways Activation of the AP-1 family of transcription factors ⁶⁵ Immune response Oncostatin M signaling via MAPK in human cells ²³ MAPK Cascade ¹ Nanoparticle-mediated activation of receptor signaling ¹ Oncostatin M Signaling Pathway ¹	11.95	PTPN11 KRAS HRAS
24	Axon guidance ³⁶	11.91	PTPN11 KRAS HRAS
25	Cell surface interactions at the vascular wall ⁶⁵ Show member pathways Fibronectin matrix formation ⁶⁵ PECAM1 interactions ⁶⁵ Tie2 Signaling ⁶⁵	11.86	PTPN11 KRAS HRAS
26	C-type lectin receptor signaling pathway ³⁶ Show member pathways Pathogen or Damage-activated C-Type Lectin Receptor Signaling Pathways ⁶⁴	11.82	PTPN11 KRAS HRAS
27	Serotonergic synapse ³⁶	11.81	KRAS HRAS
28	DNA Damage Response (only ATM dependent) ¹	11.81	KRAS HRAS
29	Glioblastoma Multiforme ⁶³	11.79	KRAS HRAS
30	Long-term potentiation ³⁶ Show member pathways Common Pathways Underlying Drug Addiction ¹	11.78	KRAS HRAS
31	Signaling by ERBB4 ⁶⁵ Show member pathways Downregulation of ERBB4 signaling ⁶⁵ ErbB4 signaling events ¹ Nuclear signaling by ERBB4 ⁶⁵	11.78	KRAS HRAS
32	EGF/EGFR Signaling Pathway ¹	11.76	PTPN11 KRAS HRAS
33	AGE-RAGE signaling pathway in diabetic complications ³⁶	11.74	KRAS HRAS
34	Development EPO-induced Jak-STAT pathway ²³ Show member pathways EPO Receptor Signaling ¹ EPO signaling pathway ¹	11.73	PTPN11 HRAS
35	Signaling events mediated by VEGFR1 and VEGFR2 ¹ Show member pathways VEGFR1 specific signals ¹	11.7	PTPN11 HRAS
36	Signaling by Ligand-Responsive EGFR Variants in Cancer ⁶⁵ Show member pathways Constitutive Signaling by EGFRvIII ⁶⁵ Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants ⁶⁵ Signaling by EGFR in Cancer ⁶⁵ Signaling by EGFRvIII in Cancer ⁶⁵	11.7	KRAS HRAS
37	Immune response IL-2 activation and signaling pathway ²³ Show member pathways Immune response IL-3 activation and signaling pathway ²³	11.7	PTPN11 HRAS
38	FGFR1 mutant receptor activation ⁶⁵ Show member pathways Signaling by cytosolic FGFR1 fusion mutants ⁶⁵ Signaling by FGFR1 in disease ⁶⁵ Signaling by plasma membrane FGFR1 fusions ⁶⁵	11.69	KRAS HRAS
39	Gap junction ³⁶	11.68	KRAS HRAS
40	Development EGFR signaling via small GTPases ²³ Show member pathways Development EGFR signaling via PIP3 ²³ Development PDGF signaling via MAPK cascades ²³ PDGF Pathway ¹	11.68	PTPN11 KRAS HRAS
41	VEGF Pathway (Tocris) ⁶⁹ Show member pathways Sorafenib Pharmacodynamics ⁶⁰	11.65	KRAS HRAS
42	Bladder cancer ³⁶ ¹	11.59	KRAS HRAS
43	Commom Cytokine Receptor G Chain Siganaling Pathway ⁶⁶	11.59	KRAS HRAS
44	TGF-beta Signaling Pathway (sino) ⁶⁶	11.57	KRAS HRAS
45	Central carbon metabolism in cancer ³⁶	11.57	KRAS HRAS
46	Mitophagy - animal ³⁶	11.56	KRAS HRAS
47	IL-2 Signaling Pathway ¹ Show member pathways IL2-mediated signaling events ¹ IL-5 Signaling Pathway ¹	11.56	PTPN11 KRAS HRAS
48	Acute myeloid leukemia ³⁶	11.55	KRAS HRAS
49	Negative regulation of MAPK pathway ⁶⁵ Show member pathways RAF activation ⁶⁵	11.53	KRAS HRAS
50	GnRH secretion ³⁶	11.52	KRAS HRAS

Sources

GO Terms for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

Biological processes related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	stimulatory C-type lectin receptor signaling pathway	GO:0002223	9.48	KRAS HRAS
2	liver development	GO:0001889	9.46	KRAS HRAS
3	ephrin receptor signaling pathway	GO:0048013	9.43	PTPN11 HRAS
4	fibroblast growth factor receptor signaling pathway	GO:0008543	9.4	SHOC2 PTPN11
5	positive regulation of MAP kinase activity	GO:0043406	9.37	KRAS HRAS
6	positive regulation of Ras protein signal transduction	GO:0046579	9.32	SHOC2 HRAS
7	homeostasis of number of cells within a tissue	GO:0048873	9.26	PTPN11 KRAS
8	regulation of long-term neuronal synaptic plasticity	GO:0048169	9.16	KRAS HRAS
9	response to isolation stress	GO:0035900	8.96	KRAS HRAS
10	Ras protein signal transduction	GO:0007265	8.8	SHOC2 KRAS HRAS

Molecular functions related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	GDP binding	GO:0019003	8.62	KRAS HRAS

Sources

Sources for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

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⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 (NSLH1)

Aliases & Classifications for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

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Diseases in the Noonan Syndrome-Like Disorder with Loose Anagen Hair family:

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Expression for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

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Pathways related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 according to GeneCards Suite gene sharing:

GO Terms for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1

Biological processes related to Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 according to GeneCards Suite gene sharing:

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Sources for Noonan Syndrome-Like Disorder with Loose Anagen Hair 1