Heimler Syndrome 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

HMLR1 MCID: HML047 MIFTS: 38	Heimler Syndrome 1 (HMLR1) Categories: Ear diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Oral diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

Sources

Aliases & Classifications for Heimler Syndrome 1

MalaCards integrated aliases for Heimler Syndrome 1:

Name: Heimler Syndrome 1 ⁵⁶ ¹² ⁷³

Deafness Enamel Hypoplasia Nail Defects ⁵² ⁷³ ²⁹ ⁶ ⁷¹

Sensorineural Hearing Loss, Enamel Hypoplasia, and Nail Abnormalities ⁵² ⁷³

Hearing Loss, Sensorineural, with Enamel Hypoplasia and Nail Defects ⁵⁶ ⁷³

Deafness-Enamel Hypoplasia-Nail Defects Syndrome ¹² ⁵⁸

Peroxisome Biogenesis Disorder 1c ⁵⁶ ⁷³

Heimler Syndrome ⁵² ⁵⁸

Hmlr1 ⁵⁶ ⁷³

Pbd1c ⁵⁶ ⁷³

Bilateral Sensorineural Hearing Loss, Enamel Hypoplasia and Nail Defects ⁵²

Hearing Loss-Enamel Hypoplasia-Nail Defects Syndrome ⁵⁸

Peroxisome Biogenesis Disorder 1c; Pbd1c ⁵⁶

Peroxisomal Biogenesis Disorder 1c ¹²

Heimler Syndrome, Type 1 ³⁹

Characteristics:

Orphanet epidemiological data:

⁵⁸

deafness-enamel hypoplasia-nail defects syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

⁵⁶

Inheritance:
autosomal recessive

HPO:

³¹

heimler syndrome 1:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases
Anatomical: Ear diseases Skin diseases Oral diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare otorhinolaryngological diseases

Rare skin diseases

Developmental anomalies during embryogenesis

Rare odontological diseases

External Ids:

Disease Ontology ¹² DOID:0080623

OMIM ⁵⁶ 234580

OMIM Phenotypic Series ⁵⁶ PS214100

MeSH ⁴³ D000567 D006319 D009260

MESH via Orphanet ⁴⁴ C535994

UMLS via Orphanet ⁷² C1856186

Orphanet ⁵⁸ ORPHA3220

MedGen ⁴¹ C1856186 C4551980

UMLS ⁷¹ C1856186

Sources

Summaries for Heimler Syndrome 1

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3220 Definition Deafness-enamel hypoplasia-nail defects syndrome is characterised by sensorineural hearing loss , generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive . Visit the Orphanet disease page for more resources.

MalaCards based summary : Heimler Syndrome 1, also known as deafness enamel hypoplasia nail defects, is related to peroxisome biogenesis disorder 1a and zellweger spectrum disorder. An important gene associated with Heimler Syndrome 1 is PEX1 (Peroxisomal Biogenesis Factor 1), and among its related pathways/superpathways is Peroxisome. Affiliated tissues include skin, and related phenotypes are intellectual disability and sensorineural hearing impairment

Disease Ontology : ¹² A peroxisomal biogenesis disorder that is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has material basis in homozygous or compound heterozygous mutations in the PEX1 gene on chromosome 7q21.

OMIM : ⁵⁶ Heimler syndrome-1 (HMLR1), which represents the mildest end of the peroxisomal biogenesis disorder spectrum (see PBD1A, 214100), is a rare autosomal recessive disorder characterized by sensorineural hearing loss, enamel hyoplasia of the secondary dentition, and nail abnormalities (Ratbi et al., 2015). (234580)

UniProtKB/Swiss-Prot : ⁷³ Heimler syndrome 1: A form of Heimler syndrome, a very mild peroxisome biogenesis disorder characterized by sensorineural hearing loss, amelogenesis imperfecta resulting in enamel hyoplasia of the secondary dentition, nail defects, and occasional or late-onset retinal pigmentation abnormalities.

Wikipedia : ⁷⁴ Heimler syndrome is a rare autosomal recessive condition characterized by sensorineural hearing loss,... more...

Sources

Related Diseases for Heimler Syndrome 1

Diseases in the Heimler Syndrome 1 family:

Heimler Syndrome 2

Diseases related to Heimler Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)

#	Related Disease	Score	Top Affiliating Genes
1	peroxisome biogenesis disorder 1a	31.9	PEX6 PEX1
2	zellweger spectrum disorder	29.9	PEX6 PEX1
3	amelogenesis imperfecta	29.7	PEX6 PEX1
4	leukodystrophy	29.5	PEX6 PEX1
5	sensorineural hearing loss	29.5	PEX6 PEX1
6	zellweger syndrome	29.5	PEX6 PEX1
7	peroxisome biogenesis disorder 1b	29.4	PEX6 PEX1
8	fundus dystrophy	29.1	PEX6 PEX1
9	heimler syndrome 2	11.3
10	retinitis pigmentosa-deafness syndrome	10.3
11	usher syndrome	10.3
12	retinitis pigmentosa	10.3
13	neuroretinitis	10.3
14	retinitis	10.3
15	branchiootic syndrome 1	10.2
16	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.2
17	inherited retinal disorder	10.2
18	usher syndrome, type i	10.0
19	usher syndrome type 2	10.0
20	macular retinal edema	10.0
21	retinal degeneration	10.0
22	nonsyndromic deafness	10.0
23	hypotonia	10.0
24	ciliopathy	10.0
25	peroxisomal biogenesis disorder	9.7	PEX6 PEX1
26	neonatal adrenoleukodystrophy	9.7	PEX6 PEX1
27	adrenoleukodystrophy	9.6	PEX6 PEX1
28	refsum disease, classic	9.6	PEX6 PEX1
29	peroxisomal disease	9.6	PEX6 PEX1
30	rhizomelic chondrodysplasia punctata	9.6	PEX6 PEX1

Graphical network of the top 20 diseases related to Heimler Syndrome 1:

Sources

Symptoms & Phenotypes for Heimler Syndrome 1

Human phenotypes related to Heimler Syndrome 1:

⁵⁸ ³¹ (show all 40)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	intellectual disability ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001249
2	sensorineural hearing impairment ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000407
3	diabetes mellitus ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000819
4	taurodontia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000679
5	abnormality of dental enamel ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000682
6	abnormal hair quantity ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0011362
7	abnormal toenail morphology ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0008388
8	hypogonadism ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000135
9	abnormality of nail color ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0100643
10	pili torti ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003777
11	external genital hypoplasia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003241
12	thin eyebrow ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0045074
13	abnormal nasolacrimal system morphology ³¹	hallmark (90%)		HP:0000614
14	abnormal eyelid morphology ³¹	hallmark (90%)		HP:0000492
15	abnormal fingernail morphology ³¹	hallmark (90%)		HP:0001231
16	short stature ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0004322
17	arrhythmia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0011675
18	primary amenorrhea ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000786
19	round face ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000311
20	large hands ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001176
21	delayed skeletal maturation ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002750
22	ichthyosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0008064
23	sensory neuropathy ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000763
24	high anterior hairline ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0009890
25	hyporeflexia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001265
26	cerebral calcification ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002514
27	camptodactyly of finger ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0100490
28	acanthosis nigricans ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000956
29	muscle flaccidity ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0010547
30	macular dystrophy ³¹	occasional (7.5%)		HP:0007754
31	hearing impairment ⁵⁸		Very frequent (99-80%)
32	abnormality of the dentition ⁵⁸		Very frequent (99-80%)
33	peripheral neuropathy ⁵⁸		Occasional (29-5%)
34	abnormality of the fingernails ⁵⁸		Very frequent (99-80%)
35	abnormality of the eyelid ⁵⁸		Very frequent (99-80%)
36	abnormality of the eyebrow ⁵⁸		Very frequent (99-80%)
37	abnormality of the nasolacrimal system ⁵⁸		Very frequent (99-80%)
38	amelogenesis imperfecta ³¹			HP:0000705
39	hypoplasia of dental enamel ³¹			HP:0006297
40	leukonychia ³¹			HP:0001820

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Ears:
sensorineural hearing loss

Head And Neck Teeth:
normal primary teeth
amelogenesis imperfecta (secondary teeth)

Head And Neck Eyes:
retinal pigmentation abnormalities (in some patients)
macular dystrophy (rare)

Skin Nails Hair Nails:
beau's lines (fingernails and toenails)
punctate leukonychia

Clinical features from OMIM:

234580

Sources

Drugs & Therapeutics for Heimler Syndrome 1

Search Clinical Trials , NIH Clinical Center for Heimler Syndrome 1

Sources

Genetic Tests for Heimler Syndrome 1

Genetic tests related to Heimler Syndrome 1:

#	Genetic test	Affiliating Genes
1	Deafness Enamel Hypoplasia Nail Defects ²⁹	PEX1

Sources

Anatomical Context for Heimler Syndrome 1

MalaCards organs/tissues related to Heimler Syndrome 1:

⁴⁰

Skin

Sources

Publications for Heimler Syndrome 1

Articles related to Heimler Syndrome 1:

(show all 12)

#	Title	Authors	PMID	Year
1	Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities in sibs. ⁶¹ ⁶ ⁵⁶	Heimler A...Crespi P	2063923	1991
2	Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. ⁵⁶ ⁶	Ratbi I...Van Camp G	26387595	2015
3	Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients. ⁶	Ebberink MS...Waterham HR	19877282	2010
4	Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. ⁶	Yik WY...Hacia JG	19105186	2009
5	Peroxisome biogenesis disorders. ⁶	Steinberg SJ...Moser HW	17055079	2006
6	Sensorineural deafness, enamel abnormalities and nail abnormalities: a case report of Heimler syndrome in identical twin girls. ⁶	Ong KR...Brueton LA	16530715	2006
7	The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. ⁶	Steinberg S...Braverman N	15542397	2004
8	Sensorineural hearing loss and enamel hypoplasia with subtle nail findings: another family with Heimler's syndrome. ⁵⁶	Pollak C...Say B	12514367	2003
9	Amelogenesis imperfecta, sensorineural hearing loss, and Beau's lines, a second case report of Heimler's syndrome. ⁵⁶	Tischkowitz M...Verhoef S	10636745	1999
10	Identification of a common PEX1 mutation in Zellweger syndrome. ⁶	Collins CS...Gould SJ	10447258	1999
11	Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. ⁶	Reuber BE...Gould SJ	9398847	1997
12	Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome. ⁶	Gartner J...Valle D	1301993	1992

Sources

Genes for Heimler Syndrome 1

Genes related to Heimler Syndrome 1 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PEX1	Peroxisomal Biogenesis Factor 1	Protein Coding	1666.92	Molecular basis known ⁵⁶ Pathogenic/Likely pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	17055079 10447258 26387595 (more) 1301993 2063923 9398847 19105186
2	PEX6	Peroxisomal Biogenesis Factor 6	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸

Sources

Variations for Heimler Syndrome 1

ClinVar genetic disease variations for Heimler Syndrome 1:

⁶ (show all 19) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	PEX1	NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)	SNV	Pathogenic	7516	rs61750420	7:92130876-92130876	7:92501562-92501562
2	PEX1	NM_000466.3(PEX1):c.2097dup (p.Ile700fs)	duplication	Pathogenic	7519	rs61750415	7:92132483-92132484	7:92503169-92503170
3	PEX1	NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro)	SNV	Pathogenic	217429	rs370483961	7:92136369-92136369	7:92507055-92507055
4	PEX1	NM_000466.3(PEX1):c.1239+1G>T	SNV	Pathogenic	217430	rs756876301	7:92146589-92146589	7:92517275-92517275
5	PEX1	NM_000466.3(PEX1):c.3750G>A (p.Trp1250Ter)	SNV	Pathogenic	217431	rs863225085	7:92118624-92118624	7:92489310-92489310
6	PEX1	NM_000466.3(PEX1):c.3379dup (p.Arg1127fs)	duplication	Pathogenic	203390	rs794729652	7:92120644-92120645	7:92491330-92491331
7	PEX1	NM_000466.3(PEX1):c.1792del (p.Thr598fs)	deletion	Pathogenic	224324	rs886037783	7:92136319-92136319	7:92507005-92507005
8	PEX1	NM_000466.3(PEX1):c.2922del (p.Leu974fs)	deletion	Pathogenic	371696	rs762324548	7:92123805-92123805	7:92494491-92494491
9	PEX1	NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter)	SNV	Pathogenic/Likely pathogenic	495880	rs61750428	7:92123645-92123645	7:92494331-92494331
10	PEX1	NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro)	SNV	Likely pathogenic	7517	rs121434455	7:92134126-92134126	7:92504812-92504812
11	PEX1	NM_000466.3(PEX1):c.2114T>G (p.Leu705Trp)	SNV	Conflicting interpretations of pathogenicity	217428	rs863225084	7:92132467-92132467	7:92503153-92503153
12	PEX1	NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr)	SNV	Conflicting interpretations of pathogenicity	224325	rs61750427	7:92123671-92123671	7:92494357-92494357
13	PEX1	NM_000466.3(PEX1):c.3503A>G (p.Asp1168Gly)	SNV	Uncertain significance	282718	rs182452430	7:92119161-92119161	7:92489847-92489847
14	PEX1	NM_000466.3(PEX1):c.2750C>T (p.Ala917Val)	SNV	Uncertain significance	288721	rs371327573	7:92126060-92126060	7:92496746-92496746
15	PEX1	NM_000466.3(PEX1):c.665C>T (p.Thr222Ile)	SNV	Uncertain significance	197673	rs773922257	7:92147164-92147164	7:92517850-92517850
16	PEX1	NM_000466.3(PEX1):c.1249G>A (p.Asp417Asn)	SNV	Uncertain significance	498412	rs143273433	7:92143272-92143272	7:92513958-92513958
17	PEX1	NM_000466.3(PEX1):c.254G>A (p.Gly85Glu)	SNV	Uncertain significance	502318	rs771224088	7:92151435-92151435	7:92522121-92522121
18	PEX1	NM_000466.3(PEX1):c.3756T>A (p.Asn1252Lys)	SNV	Uncertain significance	548004	rs553001596	7:92118618-92118618	7:92489304-92489304
19	PEX1	NM_000466.3(PEX1):c.2876G>C (p.Arg959Pro)	SNV	Uncertain significance	587523	rs773206107	7:92123851-92123851	7:92494537-92494537

UniProtKB/Swiss-Prot genetic disease variations for Heimler Syndrome 1:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	PEX1	p.Arg581Pro	VAR_074108	rs370483961
2	PEX1	p.Leu705Trp	VAR_074109	rs863225084
3	PEX1	p.Ile989Thr	VAR_077503	rs61750427

Sources

Expression for Heimler Syndrome 1

Search GEO for disease gene expression data for Heimler Syndrome 1.

Sources

Pathways for Heimler Syndrome 1

Pathways related to Heimler Syndrome 1 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Peroxisome ³⁶	10.54	PEX6 PEX1

Sources

GO Terms for Heimler Syndrome 1

Cellular components related to Heimler Syndrome 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	peroxisome	GO:0005777	8.96	PEX6 PEX1
2	peroxisomal membrane	GO:0005778	8.62	PEX6 PEX1

Biological processes related to Heimler Syndrome 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein targeting to peroxisome	GO:0006625	9.16	PEX6 PEX1
2	peroxisome organization	GO:0007031	8.96	PEX6 PEX1
3	protein import into peroxisome matrix	GO:0016558	8.62	PEX6 PEX1

Molecular functions related to Heimler Syndrome 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein-containing complex binding	GO:0044877	9.26	PEX6 PEX1
2	ATPase activity	GO:0016887	9.16	PEX6 PEX1
3	protein C-terminus binding	GO:0008022	8.96	PEX6 PEX1
4	ATPase activity, coupled	GO:0042623	8.62	PEX6 PEX1

Sources

Sources for Heimler Syndrome 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Heimler Syndrome 1 (HMLR1)

Aliases & Classifications for Heimler Syndrome 1

MalaCards integrated aliases for Heimler Syndrome 1:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Heimler Syndrome 1

Related Diseases for Heimler Syndrome 1

Diseases in the Heimler Syndrome 1 family:

Diseases related to Heimler Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Heimler Syndrome 1:

Symptoms & Phenotypes for Heimler Syndrome 1

Human phenotypes related to Heimler Syndrome 1:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Heimler Syndrome 1

Genetic Tests for Heimler Syndrome 1

Genetic tests related to Heimler Syndrome 1:

Anatomical Context for Heimler Syndrome 1

MalaCards organs/tissues related to Heimler Syndrome 1:

Publications for Heimler Syndrome 1

Articles related to Heimler Syndrome 1:

Genes for Heimler Syndrome 1

Genes related to Heimler Syndrome 1 (2 elite genes):

Variations for Heimler Syndrome 1

ClinVar genetic disease variations for Heimler Syndrome 1:

UniProtKB/Swiss-Prot genetic disease variations for Heimler Syndrome 1:

Expression for Heimler Syndrome 1

Pathways for Heimler Syndrome 1

Pathways related to Heimler Syndrome 1 according to GeneCards Suite gene sharing:

GO Terms for Heimler Syndrome 1

Cellular components related to Heimler Syndrome 1 according to GeneCards Suite gene sharing:

Biological processes related to Heimler Syndrome 1 according to GeneCards Suite gene sharing:

Molecular functions related to Heimler Syndrome 1 according to GeneCards Suite gene sharing:

Sources for Heimler Syndrome 1