JALIS
MCID: JLL001
MIFTS: 45

Jalili Syndrome (JALIS)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Jalili Syndrome

MalaCards integrated aliases for Jalili Syndrome:

Name: Jalili Syndrome 57 12 73 20 58 72 36 29 13 6 44 15 70
Cone-Rod Dystrophy and Amelogenesis Imperfecta 57 12 72
Cone Rod Dystrophy-Amelogenesis Imperfecta Syndrome 12 58
Cone-Rod Dystrophy with Amelogenesis Imperfecta 20
Cone-Rod Dystrophy Amelogenesis Imperfecta 20
Cone Rod Dystrophy Amelogenesis Imperfecta 70
Syndrome, Jalili 39
Jalis 72

Characteristics:

Orphanet epidemiological data:

58
jalili syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
jalili syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


External Ids:

Disease Ontology 12 DOID:0111404
OMIM® 57 217080
KEGG 36 H01015
SNOMED-CT 67 707608003
ICD10 via Orphanet 33 H35.5
UMLS via Orphanet 71 C2931074 C3495589
Orphanet 58 ORPHA1873
UMLS 70 C2931074 C3495589

Summaries for Jalili Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1873 Definition Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI; see this term) and cone-rod retinal dystrophy (CORD; see this term). Epidemiology It has been described in only one family with 29 affected individuals. Clinical description AI is a generic term for an inherited group of dental diseases in which the common clinical feature is an abnormality of tooth enamel. The enamel may be thin but normal, and/or hypomineralized. CORD is a rare retinal disorder that leads to an initial loss of central vision, color vision and photophobia before the age of 10 years with subsequent night blindness and visual field restriction. Etiology Mutations in the CNNM4 gene (2q11.2), which is implicated in metal ion transport, have been identified in several families. Genetic counseling Jalili syndrome is transmitted in an autosomal recessive manner.

MalaCards based summary : Jalili Syndrome, also known as cone-rod dystrophy and amelogenesis imperfecta, is related to pathologic nystagmus and achromatopsia, and has symptoms including photophobia An important gene associated with Jalili Syndrome is CNNM4 (Cyclin And CBS Domain Divalent Metal Cation Transport Mediator 4), and among its related pathways/superpathways are Phototransduction and Visual Cycle in Retinal Rods. Affiliated tissues include eye and retina, and related phenotypes are nystagmus and visual impairment

Disease Ontology : 12 A syndrome characterized by amelogenesis imperfecta and cone-rod retinal dystrophy that has material basis in homozygous or compound heterozygous mutation in CNNM4 on chromosome 2q11.2.

OMIM® : 57 Jalili syndrome is an autosomal recessive disorder consisting of cone-rod dystrophy and amelogenesis imperfecta. Significant visual impairment with nystagmus and photophobia is present from infancy or early childhood and progresses with age. Enamel of primary and secondary dentitions is grossly abnormal and prone to rapid posteruptive failure, in part reflecting hypomineralization (summary by Parry et al., 2009). (217080) (Updated 05-Apr-2021)

KEGG : 36 Jalili syndrome is a combination of recessively inherited cone-rod dystrophy and amelogenesis imperfecta. It is caused mutations in the CNNM4 gene that encodes a putative metal transporter that expressed in the neural retina and in ameloblasts in the developing tooth.

UniProtKB/Swiss-Prot : 72 Jalili syndrome: A syndrome characterized by the association of cone-rod dystrophy and amelogenesis imperfecta.

Wikipedia : 73 Jalili syndrome is a genetic disorder characterized by the combination of cone-rod dystrophy of the... more...

Related Diseases for Jalili Syndrome

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

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 pathologic nystagmus 30.4 PDE6C GNAT2 CNGB3 CNGA3
2 achromatopsia 30.1 PDE6C GNAT2 CNNM4 CNGB3 CNGA3
3 color blindness 29.9 PDE6C GNAT2 CNGB3 CNGA3
4 cone-rod dystrophy 2 29.9 PDE6C GNAT2 CNNM4 CNGB3 CNGA3
5 fundus dystrophy 29.8 PDE6C GNAT2 CNNM4 CNGB3 CNGA3
6 amelogenesis imperfecta 29.2 WDR72 MMP25 MMP20 FAM83H FAM20A ENAM
7 ifap syndrome 2 10.3
8 retinitis pigmentosa 44 10.3 CNGB3 CNGA3
9 cycloplegia 10.2 PDE6C GNAT2
10 autosomal recessive disease 10.2
11 choroid disease 10.2 CNGB3 CNGA3
12 scotoma 10.2 CNGB3 CNGA3
13 cone-rod dystrophy 8 10.2 GNAT2 CNGB3 CNGA3
14 hypoplastic amelogenesis imperfecta 10.1 FAM20A ENAM
15 prolonged electroretinal response suppression 10.1 GNAT2 CNGB3 CNGA3
16 enhanced s-cone syndrome 10.1 GNAT2 CNGB3 CNGA3
17 urofacial syndrome 1 10.1 CNNM4 CNNM1
18 retinoschisis 1, x-linked, juvenile 10.1 GNAT2 CNGB3 CNGA3
19 retinitis pigmentosa 26 10.1 CNGB3 CNGA3
20 eye degenerative disease 10.1 GNAT2 CNGB3 CNGA3
21 amelogenesis imperfecta, type ic 10.1 MMP20 ENAM
22 enamel caries 10.1 MMP20 ENAM
23 stargardt disease 10.1 GNAT2 CNGB3 CNGA3
24 inherited retinal disorder 10.1
25 papillary craniopharyngioma 10.1 MMP20 ENAM
26 adamantinous craniopharyngioma 10.1 MMP20 ENAM
27 congenital nystagmus 10.0 CNGB3 CNGA3
28 oligocone trichromacy 10.0 PDE6C GNAT2 CNGB3 CNGA3
29 achromatopsia 7 10.0 PDE6C GNAT2 CNGB3 CNGA3
30 red-green color blindness 10.0 PDE6C GNAT2 CNGB3 CNGA3
31 colorblindness, partial, protan series 10.0 PDE6C GNAT2 CNGB3 CNGA3
32 achromatopsia 2 10.0 PDE6C GNAT2 CNGB3 CNGA3
33 amelogenesis imperfecta, hypomaturation type, iia2 10.0 WDR72 MMP20
34 tritanopia 10.0 PDE6C GNAT2 CNGB3 CNGA3
35 achromatopsia 3 10.0 PDE6C GNAT2 CNGB3 CNGA3
36 achromatopsia 4 10.0 PDE6C GNAT2 CNGB3 CNGA3
37 blue cone monochromacy 10.0 PDE6C GNAT2 CNGB3 CNGA3
38 dental fluorosis 10.0 MMP20 ENAM
39 cone-rod dystrophy 6 10.0 PDE6C GNAT2 CNGB3 CNGA3
40 congenital stationary night blindness 10.0 PDE6C GNAT2 CNGB3 CNGA3
41 cone dystrophy 10.0 PDE6C GNAT2 CNGB3 CNGA3
42 amelogenesis imperfecta hypomaturation type 10.0 WDR72 MMP20
43 hypercementosis 9.9 MMP20 FAM83H ENAM
44 coloboma of macula 9.9
45 yemenite deaf-blind hypopigmentation syndrome 9.9
46 isolated ectopia lentis 9.9
47 keratoconus 9.9
48 spastic diplegia 9.9
49 retinal vascular disease 9.9
50 myopathy 9.9

Graphical network of the top 20 diseases related to Jalili Syndrome:



Diseases related to Jalili Syndrome

Symptoms & Phenotypes for Jalili Syndrome

Human phenotypes related to Jalili Syndrome:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
2 visual impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000505
3 abnormality of retinal pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007703
4 photophobia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000613
5 color vision defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0000551
6 abnormality of dental color 58 31 hallmark (90%) Very frequent (99-80%) HP:0011073
7 amelogenesis imperfecta 58 31 hallmark (90%) Very frequent (99-80%) HP:0000705
8 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
9 carious teeth 31 HP:0000670
10 abnormality of dental enamel 58 Very frequent (99-80%)
11 nyctalopia 31 HP:0000662
12 optic disc pallor 31 HP:0000543
13 cone/cone-rod dystrophy 31 HP:0000548
14 monochromacy 31 HP:0007803

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
nystagmus
photophobia
night blindness
bull's eye macular lesion
cone-rod dystrophy
more
Head And Neck Teeth:
amelogenesis imperfecta
dental caries
dark brown discoloration

Clinical features from OMIM®:

217080 (Updated 05-Apr-2021)

UMLS symptoms related to Jalili Syndrome:


photophobia

MGI Mouse Phenotypes related to Jalili Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.1 CNNM4 ENAM FAM20A FAM83H MMP20 WDR72

Drugs & Therapeutics for Jalili Syndrome

Search Clinical Trials , NIH Clinical Center for Jalili Syndrome

Cochrane evidence based reviews: jalili syndrome

Genetic Tests for Jalili Syndrome

Genetic tests related to Jalili Syndrome:

# Genetic test Affiliating Genes
1 Jalili Syndrome 29 CNNM4

Anatomical Context for Jalili Syndrome

MalaCards organs/tissues related to Jalili Syndrome:

40
Eye, Retina

Publications for Jalili Syndrome

Articles related to Jalili Syndrome:

(show all 25)
# Title Authors PMID Year
1
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta. 61 57 6
19200527 2009
2
Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. 6 57 61
19200525 2009
3
A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome. 61 6 57
3236352 1988
4
An autosomal recessive cone-rod dystrophy associated with amelogenesis imperfecta. 57 6
15173235 2004
5
Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs. 57 61
20706282 2010
6
Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate. 57
12461695 2002
7
Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort. 61
32022389 2020
8
Structural Insights into the Intracellular Region of the Human Magnesium Transport Mediator CNNM4. 61
31842432 2019
9
A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations. 61
31347285 2019
10
Features, genetics and their correlation in Jalili syndrome: a systematic review. 61
30705057 2019
11
Current Structural Knowledge on the CNNM Family of Magnesium Transport Mediators. 61
30845649 2019
12
Report of two unrelated families with Jalili syndrome and a novel nonsense heterozygous mutation in CNNM4 gene. 61
29421602 2018
13
Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1. 61
29322253 2018
14
Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta. 61
29421294 2018
15
Co-occurrence of Jalili syndrome and muscular overgrowth. 61
28586144 2017
16
Novel splice site mutation in CNNM4 gene in a family with Jalili syndrome. 61
28246031 2017
17
A new familial case of Jalili syndrome caused by a novel mutation in CNNM4. 61
27070327 2017
18
A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome. 61
27419834 2016
19
Jalili syndrome presenting with situs inversus totalis and keratoconus: the first case in the Indian subcontinent. 61
26117809 2015
20
Intra-familial phenotype variability in patients with Jalili syndrome. 61
25613845 2015
21
Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America. 61
23362848 2013
22
Basolateral Mg2+ extrusion via CNNM4 mediates transcellular Mg2+ transport across epithelia: a mouse model. 61
24339795 2013
23
Dental phenotype in Jalili syndrome due to a c.1312 dupC homozygous mutation in the CNNM4 gene. 61
24194943 2013
24
Cone-rod dystrophy associated with amelogenesis imperfecta in a child with neurofibromatosis type 1. 61
21728811 2012
25
Purification, crystallization and preliminary crystallographic analysis of the CBS pair of the human metal transporter CNNM4. 61
21393841 2011

Variations for Jalili Syndrome

ClinVar genetic disease variations for Jalili Syndrome:

6 (show top 50) (show all 101)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CNNM4 NM_020184.4(CNNM4):c.971T>C (p.Leu324Pro) SNV Pathogenic 2849 rs74552543 GRCh37: 2:97427707-97427707
GRCh38: 2:96761970-96761970
2 CNNM4 NM_020184.4(CNNM4):c.1690C>T (p.Gln564Ter) SNV Pathogenic 2850 rs80100937 GRCh37: 2:97464802-97464802
GRCh38: 2:96799065-96799065
3 CNNM4 NM_020184.4(CNNM4):c.599C>A (p.Ser200Tyr) SNV Pathogenic 2851 rs79424354 GRCh37: 2:97427335-97427335
GRCh38: 2:96761598-96761598
4 CNNM4 NM_020184.4(CNNM4):c.2149C>T (p.Gln717Ter) SNV Pathogenic 2852 rs75559353 GRCh37: 2:97475075-97475075
GRCh38: 2:96809338-96809338
5 CNNM4 CNNM4, 83-BP DEL, NT62 Deletion Pathogenic 2853 GRCh37:
GRCh38:
6 CNNM4 NM_020184.4(CNNM4):c.1682-1G>C SNV Pathogenic 252931 rs879255500 GRCh37: 2:97464793-97464793
GRCh38: 2:96799056-96799056
7 CNNM4 CNNM4, 1-BP DUP, 1312C Duplication Pathogenic 2847 GRCh37:
GRCh38:
8 CNNM4 NM_020184.4(CNNM4):c.1555C>T (p.Arg519Ter) SNV Pathogenic 434794 rs1455470131 GRCh37: 2:97463258-97463258
GRCh38: 2:96797521-96797521
9 CNNM4 NM_020184.4(CNNM4):c.1743C>G (p.Tyr581Ter) SNV Pathogenic 518456 rs1432600424 GRCh37: 2:97464855-97464855
GRCh38: 2:96799118-96799118
10 CNNM4 NM_020184.4(CNNM4):c.1312del (p.Leu438fs) Deletion Pathogenic 635490 rs746879923 GRCh37: 2:97428043-97428043
GRCh38: 2:96762306-96762306
11 CNNM4 NM_020184.4(CNNM4):c.1220G>T (p.Arg407Leu) SNV Pathogenic 627568 rs1574047454 GRCh37: 2:97427956-97427956
GRCh38: 2:96762219-96762219
12 CNNM4 NM_020184.4(CNNM4):c.1547-1G>A SNV Pathogenic 801734 rs1558993255 GRCh37: 2:97463249-97463249
GRCh38: 2:96797512-96797512
13 CNNM4 NM_020184.4(CNNM4):c.1494C>A (p.Asp498Glu) SNV Pathogenic 812291 rs776159012 GRCh37: 2:97462840-97462840
GRCh38: 2:96797103-96797103
14 CNNM4 NM_020184.4(CNNM4):c.2326T>C (p.Ter776Arg) SNV Pathogenic 1029740 GRCh37: 2:97475252-97475252
GRCh38: 2:96809515-96809515
15 CNNM4 NM_020184.4(CNNM4):c.707G>A (p.Arg236Gln) SNV Pathogenic/Likely pathogenic 2848 rs75267011 GRCh37: 2:97427443-97427443
GRCh38: 2:96761706-96761706
16 CNNM4 NM_020184.4(CNNM4):c.*1045T>C SNV Uncertain significance 337604 rs886056480 GRCh37: 2:97476299-97476299
GRCh38: 2:96810562-96810562
17 CNNM4 NM_020184.4(CNNM4):c.1474G>A (p.Gly492Ser) SNV Uncertain significance 337586 rs886056475 GRCh37: 2:97462820-97462820
GRCh38: 2:96797083-96797083
18 CNNM4 NM_020184.4(CNNM4):c.*364A>G SNV Uncertain significance 337598 rs886056476 GRCh37: 2:97475618-97475618
GRCh38: 2:96809881-96809881
19 CNNM4 NM_020184.4(CNNM4):c.591C>T (p.Gly197=) SNV Uncertain significance 337583 rs35633391 GRCh37: 2:97427327-97427327
GRCh38: 2:96761590-96761590
20 CNNM4 NM_020184.4(CNNM4):c.-90C>T SNV Uncertain significance 337575 rs886056470 GRCh37: 2:97426647-97426647
GRCh38: 2:96760910-96760910
21 CNNM4 NM_020184.4(CNNM4):c.1899G>A (p.Thr633=) SNV Uncertain significance 337589 rs753028867 GRCh37: 2:97465336-97465336
GRCh38: 2:96799599-96799599
22 CNNM4 NM_020184.4(CNNM4):c.2218A>G (p.Met740Val) SNV Uncertain significance 337593 rs201290867 GRCh37: 2:97475144-97475144
GRCh38: 2:96809407-96809407
23 CNNM4 NM_020184.4(CNNM4):c.243C>T (p.Tyr81=) SNV Uncertain significance 337579 rs886056474 GRCh37: 2:97426979-97426979
GRCh38: 2:96761242-96761242
24 CNNM4 NM_020184.4(CNNM4):c.*2256_*2258GTT[1] Microsatellite Uncertain significance 337619 rs886056484 GRCh37: 2:97477508-97477510
GRCh38: 2:96811771-96811773
25 CNNM4 NM_020184.4(CNNM4):c.78G>A (p.Leu26=) SNV Uncertain significance 337577 rs886056472 GRCh37: 2:97426814-97426814
GRCh38: 2:96761077-96761077
26 CNNM4 NM_020184.4(CNNM4):c.*924G>A SNV Uncertain significance 337602 rs886056479 GRCh37: 2:97476178-97476178
GRCh38: 2:96810441-96810441
27 CNNM4 NM_020184.4(CNNM4):c.1614G>T (p.Ala538=) SNV Uncertain significance 337587 rs777167557 GRCh37: 2:97463317-97463317
GRCh38: 2:96797580-96797580
28 CNNM4 NM_020184.4(CNNM4):c.788A>G (p.Asn263Ser) SNV Uncertain significance 337584 rs150269409 GRCh37: 2:97427524-97427524
GRCh38: 2:96761787-96761787
29 CNNM4 NM_020184.4(CNNM4):c.*1362G>A SNV Uncertain significance 337608 rs561958044 GRCh37: 2:97476616-97476616
GRCh38: 2:96810879-96810879
30 CNNM4 NM_020184.4(CNNM4):c.2137C>T (p.Arg713Trp) SNV Uncertain significance 337591 rs552453867 GRCh37: 2:97475063-97475063
GRCh38: 2:96809326-96809326
31 CNNM4 NM_020184.4(CNNM4):c.*1517G>A SNV Uncertain significance 337611 rs538345373 GRCh37: 2:97476771-97476771
GRCh38: 2:96811034-96811034
32 CNNM4 NM_020184.4(CNNM4):c.*1754G>A SNV Uncertain significance 337614 rs886056482 GRCh37: 2:97477008-97477008
GRCh38: 2:96811271-96811271
33 CNNM4 NM_020184.4(CNNM4):c.*475C>T SNV Uncertain significance 337600 rs886056478 GRCh37: 2:97475729-97475729
GRCh38: 2:96809992-96809992
34 CNNM4 NM_020184.4(CNNM4):c.*203del Deletion Uncertain significance 337597 rs562289410 GRCh37: 2:97475457-97475457
GRCh38: 2:96809720-96809720
35 CNNM4 NM_020184.4(CNNM4):c.556A>G (p.Ile186Val) SNV Uncertain significance 337582 rs146760430 GRCh37: 2:97427292-97427292
GRCh38: 2:96761555-96761555
36 CNNM4 NM_020184.4(CNNM4):c.445G>T (p.Ala149Ser) SNV Uncertain significance 895045 GRCh37: 2:97427181-97427181
GRCh38: 2:96761444-96761444
37 CNNM4 NM_020184.4(CNNM4):c.1045G>A (p.Glu349Lys) SNV Uncertain significance 895046 GRCh37: 2:97427781-97427781
GRCh38: 2:96762044-96762044
38 CNNM4 NM_020184.4(CNNM4):c.1312C>G (p.Leu438Val) SNV Uncertain significance 895048 GRCh37: 2:97428048-97428048
GRCh38: 2:96762311-96762311
39 CNNM4 NM_020184.4(CNNM4):c.2296C>G (p.Leu766Val) SNV Uncertain significance 895112 GRCh37: 2:97475222-97475222
GRCh38: 2:96809485-96809485
40 CNNM4 NM_020184.4(CNNM4):c.*189G>T SNV Uncertain significance 895113 GRCh37: 2:97475443-97475443
GRCh38: 2:96809706-96809706
41 CNNM4 NM_020184.4(CNNM4):c.*204G>T SNV Uncertain significance 895114 GRCh37: 2:97475458-97475458
GRCh38: 2:96809721-96809721
42 CNNM4 NM_020184.4(CNNM4):c.*252G>C SNV Uncertain significance 895115 GRCh37: 2:97475506-97475506
GRCh38: 2:96809769-96809769
43 CNNM4 NM_020184.4(CNNM4):c.*286A>T SNV Uncertain significance 895116 GRCh37: 2:97475540-97475540
GRCh38: 2:96809803-96809803
44 CNNM4 NM_020184.4(CNNM4):c.*2121G>A SNV Uncertain significance 895189 GRCh37: 2:97477375-97477375
GRCh38: 2:96811638-96811638
45 CNNM4 NM_020184.4(CNNM4):c.1422C>T (p.Ile474=) SNV Uncertain significance 896487 GRCh37: 2:97462768-97462768
GRCh38: 2:96797031-96797031
46 CNNM4 NM_020184.4(CNNM4):c.1326T>G (p.Thr442=) SNV Uncertain significance 337585 rs761775711 GRCh37: 2:97428062-97428062
GRCh38: 2:96762325-96762325
47 CNNM4 NM_020184.4(CNNM4):c.2154C>T (p.Asn718=) SNV Uncertain significance 337592 rs138445233 GRCh37: 2:97475080-97475080
GRCh38: 2:96809343-96809343
48 CNNM4 NM_020184.4(CNNM4):c.*1565C>T SNV Uncertain significance 337612 rs886056481 GRCh37: 2:97476819-97476819
GRCh38: 2:96811082-96811082
49 CNNM4 NM_020184.4(CNNM4):c.*1158C>T SNV Uncertain significance 337606 rs760774484 GRCh37: 2:97476412-97476412
GRCh38: 2:96810675-96810675
50 CNNM4 NM_020184.4(CNNM4):c.*1937G>A SNV Uncertain significance 337615 rs886056483 GRCh37: 2:97477191-97477191
GRCh38: 2:96811454-96811454

UniProtKB/Swiss-Prot genetic disease variations for Jalili Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 CNNM4 p.Ser196Pro VAR_058319
2 CNNM4 p.Ser200Tyr VAR_058320 rs79424354
3 CNNM4 p.Arg236Gln VAR_058321 rs75267011
4 CNNM4 p.Leu324Pro VAR_058322 rs74552543

Expression for Jalili Syndrome

Search GEO for disease gene expression data for Jalili Syndrome.

Pathways for Jalili Syndrome

GO Terms for Jalili Syndrome

Cellular components related to Jalili Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter complex GO:1902495 8.62 CNGB3 CNGA3

Biological processes related to Jalili Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.83 CNNM4 CNNM3 CNNM1 CNGB3 CNGA3
2 response to stimulus GO:0050896 9.72 PDE6C GNAT2 CNNM4 CNGB3 CNGA3
3 visual perception GO:0007601 9.55 PDE6C GNAT2 CNNM4 CNGB3 CNGA3
4 collagen catabolic process GO:0030574 9.46 MMP25 MMP20
5 transport GO:0006810 9.43 CNNM4 CNNM3 CNNM1
6 retinal cone cell development GO:0046549 9.4 PDE6C GNAT2
7 amelogenesis GO:0097186 9.37 MMP20 ENAM
8 enamel mineralization GO:0070166 9.13 WDR72 FAM20A CNNM4
9 biomineral tissue development GO:0031214 9.02 WDR72 FAM83H FAM20A ENAM CNNM4

Molecular functions related to Jalili Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter activity GO:0022857 9.43 CNNM4 CNNM3 CNNM1
2 intracellular cAMP-activated cation channel activity GO:0005222 9.16 CNGB3 CNGA3
3 intracellular cGMP-activated cation channel activity GO:0005223 8.96 CNGB3 CNGA3
4 cGMP binding GO:0030553 8.8 PDE6C CNGB3 CNGA3

Sources for Jalili Syndrome

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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