HOMG5
MCID: HYP827
MIFTS: 44

Hypomagnesemia 5, Renal, with or Without Ocular Involvement (HOMG5)

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

MalaCards integrated aliases for Hypomagnesemia 5, Renal, with or Without Ocular Involvement:

Name: Hypomagnesemia 5, Renal, with or Without Ocular Involvement 56 73
Hypomagnesemia 5, Renal, with Ocular Involvement 56 29 13 6
Fhhnc with Severe Ocular Involvement 56 12 58 73
Familial Hypomagnesemia with Hypercalciuria, Nephrocalcinosis and Severe Ocular Involvement 12 73
Hypercalciuria-Bilateral Macular Coloboma Syndrome 12 58
Renal Hypomagnesemia 5 with Ocular Involvement 12 15
Meier-Blumberg-Imahorn Syndrome 12 58
Meier Blumberg Imahorn Syndrome 52 43
Homg5 56 73
Familial Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis with Severe Ocular Involvement 58
Hypomagnesemia, Familial, with Hypercalciuria, Nephrocalcinosis, and Severe Ocular Involvement 56
Idiopathic Hypercalciuria with Bilateral Macular Colobomata 52
Hypomagnesemia, Type 5, Renal, with Ocular Involvement 39
Macular Coloboma, Bilateral, with Hypercalciuria 56
Hypomagnesemia, Renal, with Ocular Involvement 56
Bilateral Macular Coloboma with Hypercalciuria 12
Hypomagnesemia 5 Renal with Ocular Involvement 73
Macular Coloboma Bilateral with Hypercalciuria 73
Hypomagnesemia Renal with Ocular Involvement 73
Hypomagnesemia 5 73

Characteristics:

Orphanet epidemiological data:

58
familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
some patients have normal vision
variable severity of amelogenesis imperfecta, even within the same patient


HPO:

31
hypomagnesemia 5, renal, with or without ocular involvement:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare renal diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0060881
OMIM 56 248190
OMIM Phenotypic Series 56 PS602014
ICD10 via Orphanet 33 E83.4
UMLS via Orphanet 72 C1855466 C2931121
Orphanet 58 ORPHA2196
UMLS 71 C2931121

Summaries for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

UniProtKB/Swiss-Prot : 73 Hypomagnesemia 5, renal, with or without ocular involvement: A progressive renal disease characterized by primary renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis associated with severe ocular abnormalities such as bilateral chorioretinal scars, macular colobomata, significant myopia and nystagmus. The renal phenotype is virtually undistinguishable from that of patients with HOMG3.

MalaCards based summary : Hypomagnesemia 5, Renal, with or Without Ocular Involvement, also known as hypomagnesemia 5, renal, with ocular involvement, is related to nephrocalcinosis and nephrolithiasis. An important gene associated with Hypomagnesemia 5, Renal, with or Without Ocular Involvement is CLDN19 (Claudin 19), and among its related pathways/superpathways are Sertoli-Sertoli Cell Junction Dynamics and Cell junction organization. Affiliated tissues include eye and kidney, and related phenotypes are abnormality of retinal pigmentation and nephropathy

Disease Ontology : 12 A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has material basis in homozygous mutation in the CLDN19 gene on chromosome 1p34.2.

OMIM : 56 HOMG5 is an autosomal recessive disorder characterized by severe renal magnesium wasting, progressive renal failure, nephrocalcinosis, and severe visual impairment (Konrad et al., 2006). Amelogenesis imperfecta may also be present in some patients (Yamaguti et al., 2017). For a discussion of genetic heterogeneity of renal hypomagnesemia, see 602014. (248190)

Related Diseases for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

Diseases related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 nephrocalcinosis 28.0 SLC12A1 KCNJ1 CLDN19 CLDN16 CLDN14 BSND
2 nephrolithiasis 28.0 SLC12A1 KCNJ1 CLDN19 CLDN16 CLDN14 BSND
3 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.4
4 hypomagnesemia 3, renal 11.3
5 retinal degeneration 10.3
6 idiopathic hypercalciuria 10.3
7 hypomagnesemia 1, intestinal 10.1 CLDN19 CLDN16
8 nephrolithiasis, uric acid 10.1 CLDN19 CLDN16
9 hereditary lymphedema 10.0 CLDN19 CLDN16
10 hereditary lymphedema i 10.0 CLDN19 CLDN16
11 hypercalciuria, absorptive, 2 9.9 KCNJ1 CLDN16
12 bartter syndrome, type 2, antenatal 9.8 SLC12A1 KCNJ1
13 deafness, autosomal recessive 29 9.8 CLDN19 CLDN16 CLDN14
14 arthrogryposis, distal, type 3 9.8 SLC12A1 KCNJ1
15 diabetes insipidus 9.7 SLC12A1 BSND
16 mineral metabolism disease 9.7 SLC12A1 KCNJ1
17 hereditary hearing loss and deafness 9.6 CLDN14 BSND
18 bartter syndrome, type 4a, neonatal, with sensorineural deafness 9.6 KCNJ1 BSND
19 auditory system disease 9.5 CLDN14 BSND
20 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.4 CLDN14 BSND
21 placenta disease 9.4 SLC12A1 KCNJ1
22 hypocalcemia, autosomal dominant 1 9.3 KCNJ1 CLDN16 BSND
23 bartter syndrome, type 1, antenatal 9.3 SLC12A1 KCNJ1 CLDN19 CLDN16
24 antenatal bartter syndrome 9.3 SLC12A1 KCNJ1 BSND
25 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 9.3 SLC12A1 KCNJ1 BSND
26 dent disease 1 9.3 SLC12A1 KCNJ1 BSND
27 renal tubular transport disease 9.3 SLC12A1 KCNJ1 BSND
28 diabetes insipidus, nephrogenic, autosomal 9.2 SLC12A1 KCNJ1 BSND
29 liddle syndrome 1 9.2 SLC12A1 KCNJ1 BSND
30 hypokalemia 9.2 SLC12A1 KCNJ1 BSND
31 polyhydramnios 9.2 SLC12A1 KCNJ1 BSND
32 sensorineural hearing loss 9.0 KCNJ1 CLDN14 BSND
33 primary hypomagnesemia 9.0 TALDO1 SLC12A1 KCNJ1 CLDN19 CLDN16
34 gitelman syndrome 9.0 SLC12A1 KCNJ1 CLDN16 BSND
35 bartter syndrome, type 3 8.7 SLC12A1 KCNJ1 CLDN19 CLDN16 BSND
36 bartter disease 8.4 TALDO1 SLC12A1 KCNJ1 CLDN19 CLDN16 BSND

Graphical network of the top 20 diseases related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement:



Diseases related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement

Symptoms & Phenotypes for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

Human phenotypes related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of retinal pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007703
2 nephropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000112
3 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
4 myopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000545
5 chorioretinal coloboma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000567
6 nephrolithiasis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000787
7 macular coloboma 58 31 hallmark (90%) Very frequent (99-80%) HP:0001116
8 abnormal calcium-phosphate regulating hormone level 31 hallmark (90%) HP:0100530
9 inguinal hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000023
10 hematuria 58 31 frequent (33%) Frequent (79-30%) HP:0000790
11 umbilical hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001537
12 amelogenesis imperfecta 31 very rare (1%) HP:0000705
13 strabismus 31 HP:0000486
14 recurrent urinary tract infections 31 HP:0000010
15 nephrocalcinosis 31 HP:0000121
16 hypercalciuria 31 HP:0002150
17 abnormality of calcium-phosphate metabolism 58 Very frequent (99-80%)
18 rod-cone dystrophy 31 HP:0000510
19 astigmatism 31 HP:0000483
20 chronic kidney disease 31 HP:0012622
21 hypomagnesemia 31 HP:0002917
22 hypermagnesiuria 31 HP:0012608
23 renal calcium wasting 31 HP:0012637
24 renal magnesium wasting 31 HP:0005567

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
nystagmus
strabismus
myopia
astigmatism
tapetoretinal degeneration
more
Genitourinary Kidneys:
nephrocalcinosis
nephrolithiasis
renal calcium wasting
renal magnesium wasting
progressive renal failure

Head And Neck Teeth:
hypoplastic enamel
amelogenesis imperfecta (in some patients)
yellow-brownish discoloration of teeth
cusp malformation
diffuse opacities
more
Genitourinary Bladder:
recurrent urinary tract infections

Laboratory Abnormalities:
hypercalciuria
hypomagnesemia
hypermagnesiuria
normal serum calcium

Clinical features from OMIM:

248190

MGI Mouse Phenotypes related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.43 BSND CLDN16 CLDN19 KCNJ1 SLC12A1 TALDO1
2 renal/urinary system MP:0005367 8.92 BSND CLDN16 KCNJ1 SLC12A1

Drugs & Therapeutics for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

Search Clinical Trials , NIH Clinical Center for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

Cochrane evidence based reviews: meier blumberg imahorn syndrome

Genetic Tests for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

Genetic tests related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement:

# Genetic test Affiliating Genes
1 Hypomagnesemia 5, Renal, with Ocular Involvement 29 CLDN19

Anatomical Context for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

MalaCards organs/tissues related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement:

40
Eye, Kidney

Publications for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

Articles related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement:

# Title Authors PMID Year
1
Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations. 6 56
27530400 2017
2
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations. 56 6
22422540 2012
3
Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement. 6 56
17033971 2006
4
Idiopathic hypercalciuria with bilateral macular colobomata: a new variant of oculo-renal syndrome. 61 56
500385 1979
5
Pathophysiology of the renal acidification defect present in the syndrome of familial hypomagnesaemia-hypercalciuria. 56
7947033 1994

Variations for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

ClinVar genetic disease variations for Hypomagnesemia 5, Renal, with or Without Ocular Involvement:

6 (show top 50) (show all 70) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CLDN19 NM_148960.3(CLDN19):c.269T>G (p.Leu90Arg)SNV Pathogenic 548636 rs118203981 1:43204211-43204211 1:42738540-42738540
2 CLDN19 NM_148960.3(CLDN19):c.169C>T (p.Gln57Ter)SNV Pathogenic 548637 rs118203980 1:43205566-43205566 1:42739895-42739895
3 CLDN19 NM_148960.3(CLDN19):c.388G>T (p.Gly130Cys)SNV Pathogenic 560599 rs1557551678 1:43204092-43204092 1:42738421-42738421
4 CLDN19 NM_148960.3(CLDN19):c.59G>A (p.Gly20Asp)SNV Pathogenic 1361 rs118203979 1:43205676-43205676 1:42740005-42740005
5 CLDN19 NM_148960.3(CLDN19):c.169C>G (p.Gln57Glu)SNV Pathogenic 1362 rs118203980 1:43205566-43205566 1:42739895-42739895
6 CLDN19 NM_148960.3(CLDN19):c.269T>C (p.Leu90Pro)SNV Pathogenic 1363 rs118203981 1:43204211-43204211 1:42738540-42738540
7 CLDN19 NM_148960.3(CLDN19):c.*1698A>GSNV Uncertain significance 297317 rs765727450 1:43199059-43199059 1:42733388-42733388
8 CLDN19 NM_148960.3(CLDN19):c.*1621T>CSNV Uncertain significance 297319 rs1057515454 1:43199136-43199136 1:42733465-42733465
9 CLDN19 NM_148960.3(CLDN19):c.*1483G>TSNV Uncertain significance 297320 rs1051069098 1:43199274-43199274 1:42733603-42733603
10 CLDN19 NM_148960.3(CLDN19):c.*1312G>ASNV Uncertain significance 297323 rs972101560 1:43199445-43199445 1:42733774-42733774
11 CLDN19 NM_148960.3(CLDN19):c.*1073G>ASNV Uncertain significance 297324 rs1057515527 1:43199684-43199684 1:42734013-42734013
12 CLDN19 NM_148960.3(CLDN19):c.*523G>ASNV Uncertain significance 297333 rs776804215 1:43200234-43200234 1:42734563-42734563
13 CLDN19 NM_148960.3(CLDN19):c.646G>A (p.Ala216Thr)SNV Uncertain significance 836436 1:43200786-43200786 1:42735115-42735115
14 CLDN19 NM_148960.3(CLDN19):c.*1965T>GSNV Uncertain significance 874437 1:43198792-43198792 1:42733121-42733121
15 CLDN19 NM_148960.3(CLDN19):c.*1925T>CSNV Uncertain significance 874438 1:43198832-43198832 1:42733161-42733161
16 CLDN19 NM_148960.3(CLDN19):c.*1919G>ASNV Uncertain significance 874439 1:43198838-43198838 1:42733167-42733167
17 CLDN19 NM_148960.3(CLDN19):c.*1909G>ASNV Uncertain significance 874440 1:43198848-43198848 1:42733177-42733177
18 CLDN19 NM_148960.3(CLDN19):c.*1908C>TSNV Uncertain significance 874441 1:43198849-43198849 1:42733178-42733178
19 CLDN19 NM_148960.3(CLDN19):c.*1829A>GSNV Uncertain significance 874442 1:43198928-43198928 1:42733257-42733257
20 CLDN19 NM_148960.3(CLDN19):c.*1822C>TSNV Uncertain significance 874443 1:43198935-43198935 1:42733264-42733264
21 CLDN19 NM_148960.3(CLDN19):c.*1772A>CSNV Uncertain significance 874444 1:43198985-43198985 1:42733314-42733314
22 CLDN19 NM_148960.3(CLDN19):c.*1357C>TSNV Uncertain significance 875352 1:43199400-43199400 1:42733729-42733729
23 CLDN19 NM_148960.3(CLDN19):c.*1336T>CSNV Uncertain significance 875412 1:43199421-43199421 1:42733750-42733750
24 CLDN19 NM_148960.3(CLDN19):c.*1312G>TSNV Uncertain significance 875414 1:43199445-43199445 1:42733774-42733774
25 CLDN19 NM_148960.3(CLDN19):c.*1172C>TSNV Uncertain significance 875415 1:43199585-43199585 1:42733914-42733914
26 CLDN19 NM_148960.3(CLDN19):c.*1072C>TSNV Uncertain significance 875416 1:43199685-43199685 1:42734014-42734014
27 CLDN19 NM_148960.3(CLDN19):c.*1008C>TSNV Uncertain significance 876441 1:43199749-43199749 1:42734078-42734078
28 CLDN19 NM_148960.3(CLDN19):c.*867C>GSNV Uncertain significance 876442 1:43199890-43199890 1:42734219-42734219
29 CLDN19 NM_148960.3(CLDN19):c.*800C>TSNV Uncertain significance 876443 1:43199957-43199957 1:42734286-42734286
30 CLDN19 NM_148960.3(CLDN19):c.*642G>ASNV Uncertain significance 876444 1:43200115-43200115 1:42734444-42734444
31 CLDN19 NM_148960.3(CLDN19):c.*624C>TSNV Uncertain significance 874487 1:43200133-43200133 1:42734462-42734462
32 CLDN19 NM_148960.3(CLDN19):c.*598G>TSNV Uncertain significance 874488 1:43200159-43200159 1:42734488-42734488
33 CLDN19 NM_148960.3(CLDN19):c.*491C>TSNV Uncertain significance 874489 1:43200266-43200266 1:42734595-42734595
34 CLDN19 NM_148960.3(CLDN19):c.*285C>ASNV Uncertain significance 874490 1:43200472-43200472 1:42734801-42734801
35 CLDN19 NM_148960.3(CLDN19):c.*177C>ASNV Uncertain significance 874542 1:43200580-43200580 1:42734909-42734909
36 CLDN19 NM_148960.3(CLDN19):c.*119C>TSNV Uncertain significance 874543 1:43200638-43200638 1:42734967-42734967
37 CLDN19 NM_148960.3(CLDN19):c.*45G>ASNV Uncertain significance 874544 1:43200712-43200712 1:42735041-42735041
38 CLDN19 NM_148960.3(CLDN19):c.560C>T (p.Pro187Leu)SNV Uncertain significance 875465 1:43201615-43201615 1:42735944-42735944
39 CLDN19 NM_148960.3(CLDN19):c.498C>T (p.Phe166=)SNV Uncertain significance 875466 1:43201677-43201677 1:42736006-42736006
40 CLDN19 NM_148960.3(CLDN19):c.439G>A (p.Glu147Lys)SNV Uncertain significance 875467 1:43203934-43203934 1:42738263-42738263
41 CLDN19 NM_148960.3(CLDN19):c.350G>A (p.Arg117His)SNV Uncertain significance 875468 1:43204130-43204130 1:42738459-42738459
42 CLDN19 NM_148960.3(CLDN19):c.140A>G (p.Tyr47Cys)SNV Uncertain significance 876486 1:43205595-43205595 1:42739924-42739924
43 CLDN19 NM_148960.3(CLDN19):c.-150C>TSNV Uncertain significance 873596 1:43205884-43205884 1:42740213-42740213
44 CLDN19 NM_148960.3(CLDN19):c.-145C>TSNV Uncertain significance 297348 rs1057515569 1:43205879-43205879 1:42740208-42740208
45 CLDN19 NM_148960.3(CLDN19):c.*1428A>GSNV Uncertain significance 297321 rs149256970 1:43199329-43199329 1:42733658-42733658
46 CLDN19 NM_148960.3(CLDN19):c.*1353G>ASNV Uncertain significance 297322 rs745884385 1:43199404-43199404 1:42733733-42733733
47 CLDN19 NM_148960.3(CLDN19):c.*639C>TSNV Uncertain significance 297329 rs1030310070 1:43200118-43200118 1:42734447-42734447
48 CLDN19 NM_148960.3(CLDN19):c.*257C>TSNV Uncertain significance 297334 rs796637327 1:43200500-43200500 1:42734829-42734829
49 CLDN19 NM_148960.3(CLDN19):c.337A>G (p.Ile113Val)SNV Uncertain significance 297342 rs755364712 1:43204143-43204143 1:42738472-42738472
50 CLDN19 NM_148960.3(CLDN19):c.335C>T (p.Pro112Leu)SNV Uncertain significance 297343 rs867064302 1:43204145-43204145 1:42738474-42738474

UniProtKB/Swiss-Prot genetic disease variations for Hypomagnesemia 5, Renal, with or Without Ocular Involvement:

73
# Symbol AA change Variation ID SNP ID
1 CLDN19 p.Gly20Asp VAR_031239 rs118203979
2 CLDN19 p.Gln57Glu VAR_031240 rs118203980
3 CLDN19 p.Leu90Pro VAR_031241 rs118203981

Expression for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

Search GEO for disease gene expression data for Hypomagnesemia 5, Renal, with or Without Ocular Involvement.

Pathways for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

Pathways related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.4 CLDN19 CLDN16 CLDN14
2
Show member pathways
12.2 CLDN19 CLDN16 CLDN14
3
Show member pathways
12.13 CLDN19 CLDN16 CLDN14
4
Show member pathways
12.05 CLDN19 CLDN16 CLDN14
5 11.72 CLDN19 CLDN16 CLDN14
6 11.54 CLDN19 CLDN16 CLDN14
7 11.3 CLDN19 CLDN16 CLDN14
8 10.26 SLC12A1 KCNJ1 BSND

GO Terms for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

Cellular components related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.63 SLC12A1 KCNJ1 CLDN19 CLDN16 CLDN14 BSND
2 plasma membrane GO:0005886 9.43 SLC12A1 KCNJ1 CLDN19 CLDN16 CLDN14 BSND
3 bicellular tight junction GO:0005923 8.8 CLDN19 CLDN16 CLDN14

Biological processes related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.61 SLC12A1 KCNJ1 CLDN16
2 cell adhesion GO:0007155 9.58 CLDN19 CLDN16 CLDN14
3 ion transmembrane transport GO:0034220 9.43 SLC12A1 KCNJ1 BSND
4 chloride transmembrane transport GO:1902476 9.37 SLC12A1 BSND
5 potassium ion import across plasma membrane GO:1990573 9.32 SLC12A1 KCNJ1
6 excretion GO:0007588 9.16 KCNJ1 CLDN16
7 bicellular tight junction assembly GO:0070830 9.13 CLDN19 CLDN16 CLDN14
8 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules GO:0016338 8.8 CLDN19 CLDN16 CLDN14

Molecular functions related to Hypomagnesemia 5, Renal, with or Without Ocular Involvement according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 8.8 CLDN19 CLDN16 CLDN14

Sources for Hypomagnesemia 5, Renal, with or Without Ocular Involvement

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....