PFM2
MCID: PRT060
MIFTS: 31

Parietal Foramina 2 (PFM2)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Parietal Foramina 2

MalaCards integrated aliases for Parietal Foramina 2:

Name: Parietal Foramina 2 57 72 29 13 6 70
Pfm2 57 72
Foramina Parietalia Permagna 72
Foramina, Parietal, Type 2 39
Fpp 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
some mutation carriers have mild features of frontonasal dysplasia


HPO:

31
parietal foramina 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 609597
OMIM Phenotypic Series 57 PS168500
MedGen 41 C1865044
UMLS 70 C1865044

Summaries for Parietal Foramina 2

OMIM® : 57 Parietal foramina-2 (PFM2) is an autosomal dominant disorder characterized by bilateral parietal foramina in the skull. Some patients with PFM2 may also have mild features of frontonasal dysplasia, including hypertelorism or nose abnormalities (summary by Altunoglu et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of parietal foramina, see PFM1 (168500). (609597) (Updated 20-May-2021)

MalaCards based summary : Parietal Foramina 2, also known as pfm2, is related to parietal foramina 1 and parietal foramina. An important gene associated with Parietal Foramina 2 is ALX4 (ALX Homeobox 4). Affiliated tissues include bone and liver, and related phenotypes are depressed nasal bridge and hypertelorism

UniProtKB/Swiss-Prot : 72 Parietal foramina 2: Autosomal dominant disease characterized by oval defects of the parietal bones caused by deficient ossification around the parietal notch, which is normally obliterated during the fifth fetal month. PFM2 is also a clinical feature of Potocki-Shaffer syndrome.

Related Diseases for Parietal Foramina 2

Diseases in the Parietal Foramina family:

Parietal Foramina 1 Parietal Foramina 3
Parietal Foramina 2

Diseases related to Parietal Foramina 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 26, show less)
# Related Disease Score Top Affiliating Genes
1 parietal foramina 1 11.7
2 parietal foramina 11.6
3 potocki-shaffer syndrome 11.4
4 opitz-kaveggia syndrome 10.5
5 saethre-chotzen syndrome 10.3
6 cleft palate, isolated 10.3
7 ptosis 10.3
8 cerebellar hypoplasia 10.3
9 craniosynostosis 10.3
10 hemangioma 10.3
11 warman mulliken hayward syndrome 10.3
12 headache 10.3
13 seizure disorder 10.3
14 submucosal cleft palate 10.3
15 aging 10.0
16 non-alcoholic steatohepatitis 10.0
17 pertussis 10.0
18 hypercholesterolemia, familial, 1 9.9
19 dermatitis, atopic 9.9
20 fatty liver disease, nonalcoholic 1 9.9
21 bone disease 9.9
22 bone resorption disease 9.9
23 non-alcoholic fatty liver disease 9.9
24 cholera 9.9
25 melanoma 9.9
26 syphilis 9.9

Graphical network of the top 20 diseases related to Parietal Foramina 2:



Diseases related to Parietal Foramina 2

Symptoms & Phenotypes for Parietal Foramina 2

Human phenotypes related to Parietal Foramina 2:

31 (showing 7, show less)
# Description HPO Frequency HPO Source Accession
1 depressed nasal bridge 31 occasional (7.5%) HP:0005280
2 hypertelorism 31 occasional (7.5%) HP:0000316
3 wide nasal ridge 31 occasional (7.5%) HP:0012811
4 aplasia cutis congenita of scalp 31 HP:0007385
5 encephalocele 31 HP:0002084
6 parietal foramina 31 HP:0002697
7 symmetrical, oval parietal bone defects 31 HP:0002695

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal Skull:
symmetrical, oval parietal bone defects
cranium bifidum

Skin Nails Hair Skin:
scalp defect

Skin Nails Hair Hair:
focal alopecia (in some patients)

Head And Neck Eyes:
hypertelorism (in some patients)

Head And Neck Nose:
nasal clefting (in some patients)
wide nasal ridge (in some patients)
depressed nasal bridge (in some patients)
broad and elongated columella (in some patients)

Clinical features from OMIM®:

609597 (Updated 20-May-2021)

Drugs & Therapeutics for Parietal Foramina 2

Search Clinical Trials , NIH Clinical Center for Parietal Foramina 2

Genetic Tests for Parietal Foramina 2

Genetic tests related to Parietal Foramina 2:

# Genetic test Affiliating Genes
1 Parietal Foramina 2 29 ALX4

Anatomical Context for Parietal Foramina 2

MalaCards organs/tissues related to Parietal Foramina 2:

40
Bone, Liver

Publications for Parietal Foramina 2

Articles related to Parietal Foramina 2:

(showing 16, show less)
# Title Authors PMID Year
1
Mild nasal clefting may be predictive for ALX4 heterozygotes. 6 57
24764194 2014
2
Vertical transmission of a frontonasal phenotype caused by a novel ALX4 mutation. 6 57
23401352 2013
3
Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype. 57 6
16319823 2006
4
Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. 6 57
11137991 2001
5
The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500). 6 57
11106354 2000
6
Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome. 57
11017806 2000
7
Polydactyly and ectopic ZPA formation in Alx-4 mutant mice. 57
9374397 1997
8
PRDM5 promotes the apoptosis of epithelial cells induced by IFN-γ during Crohn's disease. 61
28476379 2017
9
DNA methylation and carcinogenesis of PRDM5 in cervical cancer. 61
20213097 2010
10
Malformation of cortical and vascular development in one family with parietal foramina determined by an ALX4 homeobox gene mutation. 61
15569759 2004
11
PRDM5 is silenced in human cancers and has growth suppressive activities. 61
15077163 2004
12
Analysis of Host Species Specificity of Magnaporthe grisea Toward Foxtail Millet Using a Genetic Cross Between Isolates from Wheat and Foxtail Millet. 61
18944155 2003
13
A novel locus for parietal foramina maps to chromosome 4q21-q23. 61
12905082 2003
14
Identification, expression, and functional characterization of MAEBL, a sporozoite and asexual blood stage chimeric erythrocyte-binding protein of Plasmodium falciparum. 61
12165387 2002
15
(+)-(S)-dihydroaeruginoic acid, an inhibitor of Septoria tritici and other phytopathogenic fungi and bacteria, produced by Pseudomonas fluorescens. 61
7798954 1994
16
Normal variants and congenital anomalies in the region of the obelion. 61
183538 1976

Variations for Parietal Foramina 2

ClinVar genetic disease variations for Parietal Foramina 2:

6 (showing 167, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ALX4 NM_021926.4(ALX4):c.418C>T (p.Gln140Ter) SNV Pathogenic 5013 rs104894191 GRCh37: 11:44331195-44331195
GRCh38: 11:44309645-44309645
2 ALX4 NM_021926.4(ALX4):c.736C>T (p.Gln246Ter) SNV Pathogenic 5014 rs104894192 GRCh37: 11:44296939-44296939
GRCh38: 11:44275389-44275389
3 ALX4 NM_021926.4(ALX4):c.653G>A (p.Arg218Gln) SNV Pathogenic 5015 rs104894193 GRCh37: 11:44297022-44297022
GRCh38: 11:44275472-44275472
4 ALX4 NM_021926.4(ALX4):c.504del (p.Asp169fs) Deletion Pathogenic 5016 rs587776614 GRCh37: 11:44297171-44297171
GRCh38: 11:44275621-44275621
5 ALX4 NM_021926.4(ALX4):c.815G>C (p.Arg272Pro) SNV Pathogenic 5017 rs104894196 GRCh37: 11:44289135-44289135
GRCh38: 11:44267585-44267585
6 ALX4 NM_021926.4(ALX4):c.620C>A (p.Ser207Ter) SNV Pathogenic 5018 rs104894197 GRCh37: 11:44297055-44297055
GRCh38: 11:44275505-44275505
7 ALX4 NM_021926.4(ALX4):c.385_394del (p.Cys129fs) Deletion Pathogenic 5019 rs387906325 GRCh37: 11:44331219-44331228
GRCh38: 11:44309669-44309678
8 ALX4 NM_021926.4(ALX4):c.646C>G (p.Arg216Gly) SNV Pathogenic 155902 rs587777700 GRCh37: 11:44297029-44297029
GRCh38: 11:44275479-44275479
9 ALX4 NM_021926.4(ALX4):c.976_985delinsCTAAGATCTCAACAGAGATGGCAACT (p.Asp326fs) Indel Pathogenic 155904 rs587777702 GRCh37: 11:44286655-44286664
GRCh38: 11:44265105-44265114
10 ALX4 NM_021926.4(ALX4):c.569C>T (p.Pro190Leu) SNV Uncertain significance 304708 rs143620051 GRCh37: 11:44297106-44297106
GRCh38: 11:44275556-44275556
11 ALX4 NM_021926.4(ALX4):c.*1157C>A SNV Uncertain significance 304665 rs886048302 GRCh37: 11:44285247-44285247
GRCh38: 11:44263697-44263697
12 ALX4 NM_021926.4(ALX4):c.*855C>A SNV Uncertain significance 304682 rs573850141 GRCh37: 11:44285549-44285549
GRCh38: 11:44263999-44263999
13 ALX4 NM_021926.4(ALX4):c.*3381C>T SNV Uncertain significance 304619 rs531931217 GRCh37: 11:44283023-44283023
GRCh38: 11:44261473-44261473
14 ALX4 NM_021926.4(ALX4):c.*2071C>T SNV Uncertain significance 304645 rs886048295 GRCh37: 11:44284333-44284333
GRCh38: 11:44262783-44262783
15 ALX4 NM_021926.4(ALX4):c.*3112C>T SNV Uncertain significance 304622 rs886048286 GRCh37: 11:44283292-44283292
GRCh38: 11:44261742-44261742
16 ALX4 NM_021926.4(ALX4):c.*3033G>A SNV Uncertain significance 304625 rs886048287 GRCh37: 11:44283371-44283371
GRCh38: 11:44261821-44261821
17 ALX4 NM_021926.4(ALX4):c.*3825G>C SNV Uncertain significance 304611 rs538499078 GRCh37: 11:44282579-44282579
GRCh38: 11:44261029-44261029
18 ALX4 NM_021926.4(ALX4):c.*2991G>A SNV Uncertain significance 304628 rs556132435 GRCh37: 11:44283413-44283413
GRCh38: 11:44261863-44261863
19 ALX4 NM_021926.4(ALX4):c.*1470C>T SNV Uncertain significance 304654 rs886048298 GRCh37: 11:44284934-44284934
GRCh38: 11:44263384-44263384
20 ALX4 NM_021926.4(ALX4):c.*1003C>A SNV Uncertain significance 304671 rs776365654 GRCh37: 11:44285401-44285401
GRCh38: 11:44263851-44263851
21 ALX4 NM_021926.4(ALX4):c.*1710T>C SNV Uncertain significance 304651 rs886048297 GRCh37: 11:44284694-44284694
GRCh38: 11:44263144-44263144
22 ALX4 NM_021926.4(ALX4):c.1163G>A (p.Arg388His) SNV Uncertain significance 304700 rs756876780 GRCh37: 11:44286477-44286477
GRCh38: 11:44264927-44264927
23 ALX4 NM_021926.4(ALX4):c.*2469T>C SNV Uncertain significance 304640 rs886048293 GRCh37: 11:44283935-44283935
GRCh38: 11:44262385-44262385
24 ALX4 NM_021926.4(ALX4):c.*3241C>G SNV Uncertain significance 304620 rs550434819 GRCh37: 11:44283163-44283163
GRCh38: 11:44261613-44261613
25 ALX4 NM_021926.4(ALX4):c.*2489C>T SNV Uncertain significance 304637 rs886048292 GRCh37: 11:44283915-44283915
GRCh38: 11:44262365-44262365
26 ALX4 NM_021926.4(ALX4):c.*2030G>A SNV Uncertain significance 304646 rs886048296 GRCh37: 11:44284374-44284374
GRCh38: 11:44262824-44262824
27 ALX4 NM_021926.4(ALX4):c.561G>T (p.Val187=) SNV Uncertain significance 304709 rs774556630 GRCh37: 11:44297114-44297114
GRCh38: 11:44275564-44275564
28 ALX4 NM_021926.4(ALX4):c.*3016G>A SNV Uncertain significance 304626 rs886048288 GRCh37: 11:44283388-44283388
GRCh38: 11:44261838-44261838
29 ALX4 NM_021926.4(ALX4):c.*1135C>T SNV Uncertain significance 304666 rs886048303 GRCh37: 11:44285269-44285269
GRCh38: 11:44263719-44263719
30 ALX4 NM_021926.4(ALX4):c.*3577C>T SNV Uncertain significance 304615 rs569151215 GRCh37: 11:44282827-44282827
GRCh38: 11:44261277-44261277
31 ALX4 NM_021926.4(ALX4):c.*2883C>A SNV Uncertain significance 304629 rs886048289 GRCh37: 11:44283521-44283521
GRCh38: 11:44261971-44261971
32 ALX4 NM_021926.4(ALX4):c.*1466G>A SNV Uncertain significance 304655 rs552492615 GRCh37: 11:44284938-44284938
GRCh38: 11:44263388-44263388
33 ALX4 NM_021926.4(ALX4):c.*2668T>C SNV Uncertain significance 304635 rs886048291 GRCh37: 11:44283736-44283736
GRCh38: 11:44262186-44262186
34 ALX4 NM_021926.4(ALX4):c.280C>T (p.Pro94Ser) SNV Uncertain significance 304712 rs760627532 GRCh37: 11:44331333-44331333
GRCh38: 11:44309783-44309783
35 ALX4 NM_021926.4(ALX4):c.1206G>A (p.Glu402=) SNV Uncertain significance 304698 rs375068808 GRCh37: 11:44286434-44286434
GRCh38: 11:44264884-44264884
36 ALX4 NM_021926.4(ALX4):c.*1356T>C SNV Uncertain significance 304661 rs886048301 GRCh37: 11:44285048-44285048
GRCh38: 11:44263498-44263498
37 ALX4 NM_021926.4(ALX4):c.*3382G>A SNV Uncertain significance 304618 rs748214374 GRCh37: 11:44283022-44283022
GRCh38: 11:44261472-44261472
38 ALX4 NM_021926.4(ALX4):c.*1444G>C SNV Uncertain significance 304658 rs886048299 GRCh37: 11:44284960-44284960
GRCh38: 11:44263410-44263410
39 ALX4 NM_021926.4(ALX4):c.*2431C>T SNV Uncertain significance 304641 rs886048294 GRCh37: 11:44283973-44283973
GRCh38: 11:44262423-44262423
40 ALX4 NM_021926.4(ALX4):c.*867C>T SNV Uncertain significance 304681 rs746147000 GRCh37: 11:44285537-44285537
GRCh38: 11:44263987-44263987
41 ALX4 NM_021926.4(ALX4):c.*2835A>T SNV Uncertain significance 304630 rs886048290 GRCh37: 11:44283569-44283569
GRCh38: 11:44262019-44262019
42 ALX4 NM_021926.4(ALX4):c.348G>T (p.Pro116=) SNV Uncertain significance 304710 rs769501075 GRCh37: 11:44331265-44331265
GRCh38: 11:44309715-44309715
43 ALX4 NM_021926.4(ALX4):c.*3988T>A SNV Uncertain significance 304610 rs886048283 GRCh37: 11:44282416-44282416
GRCh38: 11:44260866-44260866
44 ALX4 NM_021926.4(ALX4):c.*2478T>C SNV Uncertain significance 304639 rs187228888 GRCh37: 11:44283926-44283926
GRCh38: 11:44262376-44262376
45 ALX4 NM_021926.4(ALX4):c.*1408G>T SNV Uncertain significance 304659 rs886048300 GRCh37: 11:44284996-44284996
GRCh38: 11:44263446-44263446
46 ALX4 NM_021926.4(ALX4):c.*3506T>A SNV Uncertain significance 304616 rs886048285 GRCh37: 11:44282898-44282898
GRCh38: 11:44261348-44261348
47 ALX4 NM_021926.4(ALX4):c.*296C>T SNV Uncertain significance 304690 rs867734583 GRCh37: 11:44286108-44286108
GRCh38: 11:44264558-44264558
48 ALX4 NM_021926.4(ALX4):c.1185C>G (p.Ala395=) SNV Uncertain significance 304699 rs751941183 GRCh37: 11:44286455-44286455
GRCh38: 11:44264905-44264905
49 ALX4 NM_021926.4(ALX4):c.*1463C>G SNV Uncertain significance 304656 rs771684261 GRCh37: 11:44284941-44284941
GRCh38: 11:44263391-44263391
50 ALX4 NM_021926.4(ALX4):c.787C>T (p.Gln263Ter) SNV Uncertain significance 631658 rs1564998718 GRCh37: 11:44289163-44289163
GRCh38: 11:44267613-44267613
51 ALX4 NM_021926.4(ALX4):c.*3949C>G SNV Uncertain significance 877250 GRCh37: 11:44282455-44282455
GRCh38: 11:44260905-44260905
52 ALX4 NM_021926.4(ALX4):c.*1627T>G SNV Uncertain significance 877366 GRCh37: 11:44284777-44284777
GRCh38: 11:44263227-44263227
53 ALX4 NM_021926.4(ALX4):c.*1599C>T SNV Uncertain significance 877367 GRCh37: 11:44284805-44284805
GRCh38: 11:44263255-44263255
54 ALX4 NM_021926.4(ALX4):c.*1590G>A SNV Uncertain significance 877368 GRCh37: 11:44284814-44284814
GRCh38: 11:44263264-44263264
55 ALX4 NM_021926.4(ALX4):c.*859C>A SNV Uncertain significance 877420 GRCh37: 11:44285545-44285545
GRCh38: 11:44263995-44263995
56 ALX4 NM_021926.4(ALX4):c.*856G>A SNV Uncertain significance 877421 GRCh37: 11:44285548-44285548
GRCh38: 11:44263998-44263998
57 ALX4 NM_021926.4(ALX4):c.*573C>T SNV Uncertain significance 877422 GRCh37: 11:44285831-44285831
GRCh38: 11:44264281-44264281
58 ALX4 NM_021926.4(ALX4):c.*3626T>G SNV Uncertain significance 877253 GRCh37: 11:44282778-44282778
GRCh38: 11:44261228-44261228
59 ALX4 NM_021926.4(ALX4):c.*79G>A SNV Uncertain significance 304696 rs886048304 GRCh37: 11:44286325-44286325
GRCh38: 11:44264775-44264775
60 ALX4 NM_021926.4(ALX4):c.*3553T>C SNV Uncertain significance 878296 GRCh37: 11:44282851-44282851
GRCh38: 11:44261301-44261301
61 ALX4 NM_021926.4(ALX4):c.*3405G>T SNV Uncertain significance 878297 GRCh37: 11:44282999-44282999
GRCh38: 11:44261449-44261449
62 ALX4 NM_021926.4(ALX4):c.*3259G>A SNV Uncertain significance 878298 GRCh37: 11:44283145-44283145
GRCh38: 11:44261595-44261595
63 ALX4 NM_021926.4(ALX4):c.*2463T>C SNV Uncertain significance 878341 GRCh37: 11:44283941-44283941
GRCh38: 11:44262391-44262391
64 ALX4 NM_021926.4(ALX4):c.*562C>G SNV Uncertain significance 878442 GRCh37: 11:44285842-44285842
GRCh38: 11:44264292-44264292
65 ALX4 NM_021926.4(ALX4):c.620C>T (p.Ser207Leu) SNV Uncertain significance 878505 GRCh37: 11:44297055-44297055
GRCh38: 11:44275505-44275505
66 ALX4 NM_021926.4(ALX4):c.*3220G>A SNV Uncertain significance 878884 GRCh37: 11:44283184-44283184
GRCh38: 11:44261634-44261634
67 ALX4 NM_021926.4(ALX4):c.*3134G>A SNV Uncertain significance 878885 GRCh37: 11:44283270-44283270
GRCh38: 11:44261720-44261720
68 ALX4 NM_021926.4(ALX4):c.*2208C>A SNV Uncertain significance 878932 GRCh37: 11:44284196-44284196
GRCh38: 11:44262646-44262646
69 ALX4 NM_021926.4(ALX4):c.*2181A>G SNV Uncertain significance 878933 GRCh37: 11:44284223-44284223
GRCh38: 11:44262673-44262673
70 ALX4 NM_021926.4(ALX4):c.*1122G>A SNV Uncertain significance 878983 GRCh37: 11:44285282-44285282
GRCh38: 11:44263732-44263732
71 ALX4 NM_021926.4(ALX4):c.*1076C>T SNV Uncertain significance 878984 GRCh37: 11:44285328-44285328
GRCh38: 11:44263778-44263778
72 ALX4 NM_021926.4(ALX4):c.*1025C>T SNV Uncertain significance 878985 GRCh37: 11:44285379-44285379
GRCh38: 11:44263829-44263829
73 ALX4 NM_021926.4(ALX4):c.*229G>A SNV Uncertain significance 879037 GRCh37: 11:44286175-44286175
GRCh38: 11:44264625-44264625
74 ALX4 NM_021926.4(ALX4):c.347C>G (p.Pro116Arg) SNV Uncertain significance 879086 GRCh37: 11:44331266-44331266
GRCh38: 11:44309716-44309716
75 ALX4 NM_021926.4(ALX4):c.291G>A (p.Pro97=) SNV Uncertain significance 879087 GRCh37: 11:44331322-44331322
GRCh38: 11:44309772-44309772
76 ALX4 NM_021926.4(ALX4):c.275C>G (p.Pro92Arg) SNV Uncertain significance 879088 GRCh37: 11:44331338-44331338
GRCh38: 11:44309788-44309788
77 ALX4 NM_021926.4(ALX4):c.*4094T>C SNV Uncertain significance 880045 GRCh37: 11:44282310-44282310
GRCh38: 11:44260760-44260760
78 ALX4 NM_021926.4(ALX4):c.*3033G>C SNV Uncertain significance 880109 GRCh37: 11:44283371-44283371
GRCh38: 11:44261821-44261821
79 ALX4 NM_021926.4(ALX4):c.*2939C>A SNV Uncertain significance 880110 GRCh37: 11:44283465-44283465
GRCh38: 11:44261915-44261915
80 ALX4 NM_021926.4(ALX4):c.*18G>A SNV Uncertain significance 880252 GRCh37: 11:44286386-44286386
GRCh38: 11:44264836-44264836
81 ALX4 NM_021926.4(ALX4):c.*962C>T SNV Uncertain significance 880210 GRCh37: 11:44285442-44285442
GRCh38: 11:44263892-44263892
82 ALX4 NM_021926.4(ALX4):c.*2349C>A SNV Likely benign 878931 GRCh37: 11:44284055-44284055
GRCh38: 11:44262505-44262505
83 ALX4 NM_021926.4(ALX4):c.1218C>T (p.Ala406=) SNV Likely benign 880253 GRCh37: 11:44286422-44286422
GRCh38: 11:44264872-44264872
84 ALX4 NM_021926.4(ALX4):c.*196C>T SNV Likely benign 879038 GRCh37: 11:44286208-44286208
GRCh38: 11:44264658-44264658
85 ALX4 NM_021926.4(ALX4):c.728C>T (p.Ala243Val) SNV Likely benign 304705 rs145166164 GRCh37: 11:44296947-44296947
GRCh38: 11:44275397-44275397
86 ALX4 NM_021926.4(ALX4):c.917C>T (p.Pro306Leu) SNV Likely benign 877476 GRCh37: 11:44286723-44286723
GRCh38: 11:44265173-44265173
87 ALX4 NM_021926.4(ALX4):c.*407G>A SNV Likely benign 879036 GRCh37: 11:44285997-44285997
GRCh38: 11:44264447-44264447
88 ALX4 NM_021926.4(ALX4):c.1035C>T (p.Ser345=) SNV Likely benign 723770 rs140652481 GRCh37: 11:44286605-44286605
GRCh38: 11:44265055-44265055
89 ALX4 NM_021926.4(ALX4):c.*2861C>A SNV Likely benign 877312 GRCh37: 11:44283543-44283543
GRCh38: 11:44261993-44261993
90 ALX4 NM_021926.4(ALX4):c.1182G>A (p.Ala394=) SNV Likely benign 721962 rs149365713 GRCh37: 11:44286458-44286458
GRCh38: 11:44264908-44264908
91 ALX4 NM_021926.4(ALX4):c.1149C>T (p.Asn383=) SNV Likely benign 877475 GRCh37: 11:44286491-44286491
GRCh38: 11:44264941-44264941
92 ALX4 NM_021926.4(ALX4):c.*3805G>A SNV Likely benign 304612 rs373307279 GRCh37: 11:44282599-44282599
GRCh38: 11:44261049-44261049
93 ALX4 NM_021926.4(ALX4):c.*25C>T SNV Likely benign 304697 rs780898515 GRCh37: 11:44286379-44286379
GRCh38: 11:44264829-44264829
94 ALX4 NM_021926.4(ALX4):c.188G>A (p.Arg63Gln) SNV Likely benign 304714 rs372830230 GRCh37: 11:44331425-44331425
GRCh38: 11:44309875-44309875
95 ALX4 NM_021926.4(ALX4):c.*899C>T SNV Likely benign 304680 rs543627488 GRCh37: 11:44285505-44285505
GRCh38: 11:44263955-44263955
96 ALX4 NM_021926.4(ALX4):c.*290T>C SNV Likely benign 304691 rs7128671 GRCh37: 11:44286114-44286114
GRCh38: 11:44264564-44264564
97 ALX4 NM_021926.4(ALX4):c.*563C>T SNV Likely benign 304685 rs574340639 GRCh37: 11:44285841-44285841
GRCh38: 11:44264291-44264291
98 ALX4 NM_021926.4(ALX4):c.879C>T (p.Leu293=) SNV Benign 304702 rs12419361 GRCh37: 11:44289071-44289071
GRCh38: 11:44267521-44267521
99 ALX4 NM_021926.4(ALX4):c.*4105C>T SNV Benign 304608 rs560087261 GRCh37: 11:44282299-44282299
GRCh38: 11:44260749-44260749
100 ALX4 NM_021926.4(ALX4):c.63C>T (p.Tyr21=) SNV Benign 304717 rs61737298 GRCh37: 11:44331550-44331550
GRCh38: 11:44310000-44310000
101 ALX4 NM_021926.4(ALX4):c.*3405G>A SNV Benign 304617 rs7115841 GRCh37: 11:44282999-44282999
GRCh38: 11:44261449-44261449
102 ALX4 NM_021926.4(ALX4):c.*1447G>A SNV Benign 304657 rs11037920 GRCh37: 11:44284957-44284957
GRCh38: 11:44263407-44263407
103 ALX4 NM_021926.4(ALX4):c.*3596C>G SNV Benign 304614 rs11037919 GRCh37: 11:44282808-44282808
GRCh38: 11:44261258-44261258
104 ALX4 NM_021926.4(ALX4):c.*1365C>A SNV Benign 304660 rs529798397 GRCh37: 11:44285039-44285039
GRCh38: 11:44263489-44263489
105 ALX4 NM_021926.4(ALX4):c.*1121C>T SNV Benign 304668 rs146483327 GRCh37: 11:44285283-44285283
GRCh38: 11:44263733-44263733
106 ALX4 NM_021926.4(ALX4):c.*923C>T SNV Benign 304677 rs181642223 GRCh37: 11:44285481-44285481
GRCh38: 11:44263931-44263931
107 ALX4 NM_021926.4(ALX4):c.*2832A>C SNV Benign 304631 rs1840254 GRCh37: 11:44283572-44283572
GRCh38: 11:44262022-44262022
108 ALX4 NM_021926.4(ALX4):c.*1901A>G SNV Benign 304648 rs78007447 GRCh37: 11:44284503-44284503
GRCh38: 11:44262953-44262953
109 ALX4 NM_021926.4(ALX4):c.*228C>T SNV Benign 304694 rs4755798 GRCh37: 11:44286176-44286176
GRCh38: 11:44264626-44264626
110 ALX4 NM_021926.4(ALX4):c.304C>T (p.Pro102Ser) SNV Benign 304711 rs12421995 GRCh37: 11:44331309-44331309
GRCh38: 11:44309759-44309759
111 ALX4 NM_021926.4(ALX4):c.*972C>T SNV Benign 304674 rs151214135 GRCh37: 11:44285432-44285432
GRCh38: 11:44263882-44263882
112 ALX4 NM_021926.4(ALX4):c.*517C>T SNV Benign 304688 rs4755797 GRCh37: 11:44285887-44285887
GRCh38: 11:44264337-44264337
113 ALX4 NM_021926.4(ALX4):c.*2244G>A SNV Benign 304642 rs183882854 GRCh37: 11:44284160-44284160
GRCh38: 11:44262610-44262610
114 ALX4 NM_021926.4(ALX4):c.*2673T>A SNV Benign 304634 rs146304390 GRCh37: 11:44283731-44283731
GRCh38: 11:44262181-44262181
115 ALX4 NM_021926.4(ALX4):c.778-11G>A SNV Benign 304703 rs75147697 GRCh37: 11:44289183-44289183
GRCh38: 11:44267633-44267633
116 ALX4 NM_021926.4(ALX4):c.*1345G>A SNV Benign 304663 rs113781536 GRCh37: 11:44285059-44285059
GRCh38: 11:44263509-44263509
117 ALX4 NM_021926.4(ALX4):c.*1896A>G SNV Benign 304649 rs55959427 GRCh37: 11:44284508-44284508
GRCh38: 11:44262958-44262958
118 ALX4 NM_021926.4(ALX4):c.*2226G>A SNV Benign 304643 rs78607024 GRCh37: 11:44284178-44284178
GRCh38: 11:44262628-44262628
119 ALX4 NM_021926.4(ALX4):c.*156G>A SNV Benign 304695 rs376658247 GRCh37: 11:44286248-44286248
GRCh38: 11:44264698-44264698
120 ALX4 NM_021926.4(ALX4):c.*2828C>T SNV Benign 304632 rs77015141 GRCh37: 11:44283576-44283576
GRCh38: 11:44262026-44262026
121 ALX4 NM_021926.4(ALX4):c.*266T>G SNV Benign 304692 rs60998360 GRCh37: 11:44286138-44286138
GRCh38: 11:44264588-44264588
122 ALX4 NM_021926.4(ALX4):c.*922T>G SNV Benign 304678 rs185632337 GRCh37: 11:44285482-44285482
GRCh38: 11:44263932-44263932
123 ALX4 NM_021926.4(ALX4):c.621A>G (p.Ser207=) SNV Benign 304706 rs10769028 GRCh37: 11:44297054-44297054
GRCh38: 11:44275504-44275504
124 ALX4 NM_021926.4(ALX4):c.*3107A>G SNV Benign 304623 rs4755239 GRCh37: 11:44283297-44283297
GRCh38: 11:44261747-44261747
125 ALX4 NM_021926.4(ALX4):c.*1088G>A SNV Benign 304669 rs149094042 GRCh37: 11:44285316-44285316
GRCh38: 11:44263766-44263766
126 ALX4 NM_021926.4(ALX4):c.*547A>G SNV Benign 304686 rs4755796 GRCh37: 11:44285857-44285857
GRCh38: 11:44264307-44264307
127 ALX4 NM_021926.4(ALX4):c.*2110A>G SNV Benign 304644 rs7105993 GRCh37: 11:44284294-44284294
GRCh38: 11:44262744-44262744
128 ALX4 NM_021926.4(ALX4):c.1074C>T (p.His358=) SNV Benign 304701 rs3802805 GRCh37: 11:44286566-44286566
GRCh38: 11:44265016-44265016
129 ALX4 NM_021926.4(ALX4):c.*2479T>C SNV Benign 304638 rs897004 GRCh37: 11:44283925-44283925
GRCh38: 11:44262375-44262375
130 ALX4 NM_021926.4(ALX4):c.*1227G>A SNV Benign 304664 rs76501131 GRCh37: 11:44285177-44285177
GRCh38: 11:44263627-44263627
131 ALX4 NM_021926.4(ALX4):c.729G>A (p.Ala243=) SNV Benign 304704 rs11037928 GRCh37: 11:44296946-44296946
GRCh38: 11:44275396-44275396
132 ALX4 NM_021926.4(ALX4):c.*1699G>T SNV Benign 304652 rs7942612 GRCh37: 11:44284705-44284705
GRCh38: 11:44263155-44263155
133 ALX4 NM_021926.4(ALX4):c.104G>C (p.Arg35Thr) SNV Benign 304715 rs3824915 GRCh37: 11:44331509-44331509
GRCh38: 11:44309959-44309959
134 ALX4 NM_021926.4(ALX4):c.*997C>G SNV Benign 304672 rs192668810 GRCh37: 11:44285407-44285407
GRCh38: 11:44263857-44263857
135 ALX4 NM_021926.4(ALX4):c.*3999C>T SNV Benign 304609 rs369328027 GRCh37: 11:44282405-44282405
GRCh38: 11:44260855-44260855
136 ALX4 NM_021926.4(ALX4):c.*963G>A SNV Benign 304675 rs140400459 GRCh37: 11:44285441-44285441
GRCh38: 11:44263891-44263891
137 ALX4 NM_021926.4(ALX4):c.*3012C>G SNV Benign 304627 rs117877500 GRCh37: 11:44283392-44283392
GRCh38: 11:44261842-44261842
138 ALX4 NM_021926.4(ALX4):c.*782A>G SNV Benign 304684 rs373562733 GRCh37: 11:44285622-44285622
GRCh38: 11:44264072-44264072
139 ALX4 NM_021926.4(ALX4):c.*3166C>T SNV Benign 304621 rs7116335 GRCh37: 11:44283238-44283238
GRCh38: 11:44261688-44261688
140 ALX4 NM_021926.4(ALX4):c.*1913G>A SNV Benign 304647 rs189662898 GRCh37: 11:44284491-44284491
GRCh38: 11:44262941-44262941
141 ALX4 NM_021926.4(ALX4):c.*262G>A SNV Benign 304693 rs560751940 GRCh37: 11:44286142-44286142
GRCh38: 11:44264592-44264592
142 ALX4 NM_021926.4(ALX4):c.*973G>A SNV Benign 304673 rs117526668 GRCh37: 11:44285431-44285431
GRCh38: 11:44263881-44263881
143 ALX4 NM_021926.4(ALX4):c.69G>C (p.Pro23=) SNV Benign 304716 rs115968657 GRCh37: 11:44331544-44331544
GRCh38: 11:44309994-44309994
144 ALX4 NM_021926.4(ALX4):c.*902G>A SNV Benign 304679 rs76229477 GRCh37: 11:44285502-44285502
GRCh38: 11:44263952-44263952
145 ALX4 NM_021926.4(ALX4):c.*1532G>A SNV Benign 304653 rs373805569 GRCh37: 11:44284872-44284872
GRCh38: 11:44263322-44263322
146 ALX4 NM_021926.4(ALX4):c.*3081C>T SNV Benign 304624 rs139681611 GRCh37: 11:44283323-44283323
GRCh38: 11:44261773-44261773
147 ALX4 NM_021926.4(ALX4):c.*524C>T SNV Benign 304687 rs534068592 GRCh37: 11:44285880-44285880
GRCh38: 11:44264330-44264330
148 ALX4 NM_021926.4(ALX4):c.*1713G>C SNV Benign 304650 rs76845793 GRCh37: 11:44284691-44284691
GRCh38: 11:44263141-44263141
149 ALX4 NM_021926.4(ALX4):c.*1131T>C SNV Benign 304667 rs10458913 GRCh37: 11:44285273-44285273
GRCh38: 11:44263723-44263723
150 ALX4 NM_021926.4(ALX4):c.1106G>A (p.Gly369Glu) SNV Benign 778420 rs750221052 GRCh37: 11:44286534-44286534
GRCh38: 11:44264984-44264984
151 ALX4 NM_021926.4(ALX4):c.*3773A>G SNV Benign 877251 GRCh37: 11:44282631-44282631
GRCh38: 11:44261081-44261081
152 ALX4 NM_021926.4(ALX4):c.*3769T>C SNV Benign 877252 GRCh37: 11:44282635-44282635
GRCh38: 11:44261085-44261085
153 ALX4 NM_021926.4(ALX4):c.*944G>T SNV Benign 304676 rs188954464 GRCh37: 11:44285460-44285460
GRCh38: 11:44263910-44263910
154 ALX4 NM_021926.4(ALX4):c.594C>A (p.Leu198=) SNV Benign 304707 rs61737295 GRCh37: 11:44297081-44297081
GRCh38: 11:44275531-44275531
155 ALX4 NM_021926.4(ALX4):c.*1048C>T SNV Benign 304670 rs532888348 GRCh37: 11:44285356-44285356
GRCh38: 11:44263806-44263806
156 ALX4 NM_021926.4(ALX4):c.*2845G>A SNV Benign 877313 GRCh37: 11:44283559-44283559
GRCh38: 11:44262009-44262009
157 ALX4 NM_021926.4(ALX4):c.*2750G>A SNV Benign 877314 GRCh37: 11:44283654-44283654
GRCh38: 11:44262104-44262104
158 ALX4 NM_021926.4(ALX4):c.918G>A (p.Pro306=) SNV Benign 710007 rs145904583 GRCh37: 11:44286722-44286722
GRCh38: 11:44265172-44265172
159 ALX4 NM_021926.4(ALX4):c.*2507G>A SNV Benign 304636 rs75369525 GRCh37: 11:44283897-44283897
GRCh38: 11:44262347-44262347
160 ALX4 NM_021926.4(ALX4):c.*2682C>T SNV Benign 304633 rs897005 GRCh37: 11:44283722-44283722
GRCh38: 11:44262172-44262172
161 ALX4 NM_021926.4(ALX4):c.*3123G>A SNV Benign 878886 GRCh37: 11:44283281-44283281
GRCh38: 11:44261731-44261731
162 ALX4 NM_021926.4(ALX4):c.*437C>T SNV Benign 878443 GRCh37: 11:44285967-44285967
GRCh38: 11:44264417-44264417
163 ALX4 NM_021926.4(ALX4):c.474G>C (p.Glu158Asp) SNV Benign 879085 GRCh37: 11:44297201-44297201
GRCh38: 11:44275651-44275651
164 ALX4 NM_021926.4(ALX4):c.226C>A (p.Pro76Thr) SNV Benign 732792 rs79200219 GRCh37: 11:44331387-44331387
GRCh38: 11:44309837-44309837
165 ALX4 NM_021926.4(ALX4):c.-36G>C SNV Benign 880307 GRCh37: 11:44331648-44331648
GRCh38: 11:44310098-44310098
166 ALX4 NM_021926.4(ALX4):c.*1629C>T SNV Benign 880154 GRCh37: 11:44284775-44284775
GRCh38: 11:44263225-44263225
167 ALX4 NM_021926.4(ALX4):c.*46G>A SNV Benign 880251 GRCh37: 11:44286358-44286358
GRCh38: 11:44264808-44264808

UniProtKB/Swiss-Prot genetic disease variations for Parietal Foramina 2:

72 (showing 2, show less)
# Symbol AA change Variation ID SNP ID
1 ALX4 p.Arg218Gln VAR_010785 rs104894193
2 ALX4 p.Arg272Pro VAR_010897 rs104894196

Expression for Parietal Foramina 2

Search GEO for disease gene expression data for Parietal Foramina 2.

Pathways for Parietal Foramina 2

GO Terms for Parietal Foramina 2

Sources for Parietal Foramina 2

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