IMD44
MCID: IMM148
MIFTS: 31

Immunodeficiency 44 (IMD44)

Categories: Genetic diseases, Immune diseases, Infectious diseases

Aliases & Classifications for Immunodeficiency 44

MalaCards integrated aliases for Immunodeficiency 44:

Name: Immunodeficiency 44 57 12 72 29 6
Imd44 57 12 72

Characteristics:

OMIM®:

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

Miscellaneous:
variable severity
two unrelated families have been reported (last curated november 2015)
multisystem decompensation in response to viral infection


HPO:

31
immunodeficiency 44:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

Disease Ontology 12 DOID:0111975
OMIM® 57 616636
OMIM Phenotypic Series 57 PS300755
MeSH 44 D007153
SNOMED-CT via HPO 68 258211005 81308009

Summaries for Immunodeficiency 44

OMIM® : 57 Immunodeficiency-44 is an autosomal recessive primary immunodeficiency characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination in some patients. Affected individuals appear to have defects in mitochondrial fission and fusion (summary by Shahni et al., 2015). (616636) (Updated 20-May-2021)

MalaCards based summary : Immunodeficiency 44, also known as imd44, is related to primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection and measles. An important gene associated with Immunodeficiency 44 is STAT2 (Signal Transducer And Activator Of Transcription 2), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Human cytomegalovirus infection. Related phenotype is encephalopathy.

Disease Ontology : 12 A primary immunodeficiency disease characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination with apparent defects in mitochondrial fission and fusion that has material basis in homozygous or compound heterozygous mutation in STAT2 on chromosome 12q13.3.

UniProtKB/Swiss-Prot : 72 Immunodeficiency 44: An autosomal recessive disorder characterized by increased susceptibility to viral infection, resulting in some patients in encephalopathy and infection-associated neurologic decompensation.

Related Diseases for Immunodeficiency 44

Diseases related to Immunodeficiency 44 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 7, show less)
# Related Disease Score Top Affiliating Genes
1 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection 9.7 STAT2 IFNAR2
2 measles 9.7 STAT2 IFNAR2
3 mumps 9.7 STAT2 IFNAR2
4 microphthalmia with limb anomalies 9.7 STAT2 IFNAR2
5 aicardi-goutieres syndrome 9.6 STAT2 IFNAR2
6 viral infectious disease 9.6 STAT2 IFNAR2
7 noonan syndrome 1 9.5 STAT2 IFNAR2

Graphical network of the top 20 diseases related to Immunodeficiency 44:



Diseases related to Immunodeficiency 44

Symptoms & Phenotypes for Immunodeficiency 44

Human phenotypes related to Immunodeficiency 44:

31 (showing 1, show less)
# Description HPO Frequency HPO Source Accession
1 encephalopathy 31 occasional (7.5%) HP:0001298

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
encephalopathy (in some patients)
neurologic decompensation, infection-associated (in some patients)

Immunology:
increased susceptibility to certain viral infections
normal serologic immunoglobulin production to vaccination
impaired antiviral response to alpha-interferon signaling

Muscle Soft Tissue:
abnormally long mitochondria seen on muscle biopsy

Laboratory Abnormalities:
increased plasma lactate (in some patients)

Clinical features from OMIM®:

616636 (Updated 20-May-2021)

Drugs & Therapeutics for Immunodeficiency 44

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 44

Genetic Tests for Immunodeficiency 44

Genetic tests related to Immunodeficiency 44:

# Genetic test Affiliating Genes
1 Immunodeficiency 44 29 STAT2

Anatomical Context for Immunodeficiency 44

Publications for Immunodeficiency 44

Articles related to Immunodeficiency 44:

(showing 2, show less)
# Title Authors PMID Year
1
Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission. 57 6
26122121 2015
2
STAT2 deficiency and susceptibility to viral illness in humans. 57 6
23391734 2013

Variations for Immunodeficiency 44

ClinVar genetic disease variations for Immunodeficiency 44:

6 (showing 111, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 STAT2 NM_005419.4(STAT2):c.1999C>T (p.Arg667Ter) SNV Pathogenic 578415 rs1565648608 GRCh37: 12:56740271-56740271
GRCh38: 12:56346487-56346487
2 STAT2 NM_005419.4(STAT2):c.381+5G>C SNV Pathogenic 218140 rs281874770 GRCh37: 12:56749487-56749487
GRCh38: 12:56355703-56355703
3 STAT2 NM_005419.4(STAT2):c.1836C>A (p.Cys612Ter) SNV Pathogenic 218141 rs781522558 GRCh37: 12:56740628-56740628
GRCh38: 12:56346844-56346844
4 STAT2 NM_005419.4(STAT2):c.1791del (p.Leu599fs) Deletion Pathogenic 966700 GRCh37: 12:56740673-56740673
GRCh38: 12:56346889-56346889
5 IFNAR2 NM_001289125.3(IFNAR2):c.555_559del (p.Ile185fs) Deletion Pathogenic 976791 rs1312285586 GRCh37: 21:34624981-34624985
GRCh38: 21:33252676-33252680
6 IFNAR2 NM_001289125.3(IFNAR2):c.236del (p.Asp78_Leu79insTer) Deletion Pathogenic 977219 GRCh37: 21:34619035-34619035
GRCh38: 21:33246730-33246730
7 STAT2 NM_005419.4(STAT2):c.2555A>G (p.Ter852Trp) SNV Pathogenic 998372 GRCh37: 12:56737174-56737174
GRCh38: 12:56343390-56343390
8 STAT2 NM_005419.4(STAT2):c.820C>T (p.Gln274Ter) SNV Pathogenic 1028887 GRCh37: 12:56745197-56745197
GRCh38: 12:56351413-56351413
9 STAT2 NM_005419.4(STAT2):c.1435del (p.Leu479fs) Deletion Pathogenic 1032994 GRCh37: 12:56742952-56742952
GRCh38: 12:56349168-56349168
10 STAT2 NM_005419.4(STAT2):c.1209+1del Deletion Pathogenic 663294 rs1592475699 GRCh37: 12:56743880-56743880
GRCh38: 12:56350096-56350096
11 STAT2 NM_005419.4(STAT2):c.903C>T (p.Asn301=) SNV Conflicting interpretations of pathogenicity 542349 rs145152331 GRCh37: 12:56745114-56745114
GRCh38: 12:56351330-56351330
12 STAT2 NM_005419.4(STAT2):c.989G>A (p.Arg330Gln) SNV Uncertain significance 208666 rs149666262 GRCh37: 12:56744927-56744927
GRCh38: 12:56351143-56351143
13 STAT2 NM_005419.4(STAT2):c.1903G>A (p.Val635Met) SNV Uncertain significance 838587 GRCh37: 12:56740367-56740367
GRCh38: 12:56346583-56346583
14 STAT2 NM_005419.4(STAT2):c.2060G>A (p.Arg687Gln) SNV Uncertain significance 841557 GRCh37: 12:56739972-56739972
GRCh38: 12:56346188-56346188
15 STAT2 NM_005419.4(STAT2):c.1466C>A (p.Pro489His) SNV Uncertain significance 845773 GRCh37: 12:56742818-56742818
GRCh38: 12:56349034-56349034
16 STAT2 NM_005419.4(STAT2):c.340G>A (p.Glu114Lys) SNV Uncertain significance 845939 GRCh37: 12:56749533-56749533
GRCh38: 12:56355749-56355749
17 STAT2 NM_005419.4(STAT2):c.1612T>C (p.Trp538Arg) SNV Uncertain significance 854396 GRCh37: 12:56742553-56742553
GRCh38: 12:56348769-56348769
18 STAT2 NM_005419.4(STAT2):c.1061A>G (p.Asn354Ser) SNV Uncertain significance 854610 GRCh37: 12:56744646-56744646
GRCh38: 12:56350862-56350862
19 STAT2 NM_005419.4(STAT2):c.2000G>A (p.Arg667Gln) SNV Uncertain significance 860056 GRCh37: 12:56740270-56740270
GRCh38: 12:56346486-56346486
20 STAT2 NM_005419.4(STAT2):c.724C>G (p.Gln242Glu) SNV Uncertain significance 943744 GRCh37: 12:56748308-56748308
GRCh38: 12:56354524-56354524
21 STAT2 NM_005419.4(STAT2):c.429T>A (p.His143Gln) SNV Uncertain significance 951576 GRCh37: 12:56749269-56749269
GRCh38: 12:56355485-56355485
22 STAT2 NM_005419.4(STAT2):c.2045-9T>G SNV Uncertain significance 1032995 GRCh37: 12:56739996-56739996
GRCh38: 12:56346212-56346212
23 STAT2 NM_005419.4(STAT2):c.970A>C (p.Met324Leu) SNV Uncertain significance 1034502 GRCh37: 12:56744946-56744946
GRCh38: 12:56351162-56351162
24 STAT2 NM_005419.4(STAT2):c.1766T>C (p.Leu589Pro) SNV Uncertain significance 1038763 GRCh37: 12:56740698-56740698
GRCh38: 12:56346914-56346914
25 STAT2 NM_005419.4(STAT2):c.874C>G (p.Pro292Ala) SNV Uncertain significance 1039389 GRCh37: 12:56745143-56745143
GRCh38: 12:56351359-56351359
26 STAT2 NM_005419.4(STAT2):c.2485G>A (p.Val829Met) SNV Uncertain significance 1039624 GRCh37: 12:56737244-56737244
GRCh38: 12:56343460-56343460
27 STAT2 NM_005419.4(STAT2):c.1745G>A (p.Ser582Asn) SNV Uncertain significance 1040423 GRCh37: 12:56740719-56740719
GRCh38: 12:56346935-56346935
28 STAT2 NM_005419.4(STAT2):c.2130_2135del (p.Glu711_Leu712del) Deletion Uncertain significance 1041807 GRCh37: 12:56737887-56737892
GRCh38: 12:56344103-56344108
29 STAT2 NM_005419.4(STAT2):c.1618G>A (p.Asp540Asn) SNV Uncertain significance 1045319 GRCh37: 12:56742547-56742547
GRCh38: 12:56348763-56348763
30 STAT2 NM_005419.4(STAT2):c.567C>A (p.Asp189Glu) SNV Uncertain significance 1047500 GRCh37: 12:56748628-56748628
GRCh38: 12:56354844-56354844
31 STAT2 NM_005419.4(STAT2):c.331C>T (p.Leu111Phe) SNV Uncertain significance 576314 rs199890161 GRCh37: 12:56749542-56749542
GRCh38: 12:56355758-56355758
32 STAT2 NM_005419.4(STAT2):c.694C>A (p.Leu232Met) SNV Uncertain significance 661419 rs143159503 GRCh37: 12:56748338-56748338
GRCh38: 12:56354554-56354554
33 STAT2 NM_005419.4(STAT2):c.2450C>T (p.Pro817Leu) SNV Uncertain significance 845490 GRCh37: 12:56737279-56737279
GRCh38: 12:56343495-56343495
34 STAT2 NM_005419.4(STAT2):c.904G>A (p.Ala302Thr) SNV Uncertain significance 859938 GRCh37: 12:56745113-56745113
GRCh38: 12:56351329-56351329
35 STAT2 NM_005419.4(STAT2):c.1602_1604ATT[1] (p.Leu536del) Microsatellite Uncertain significance 863580 GRCh37: 12:56742558-56742560
GRCh38: 12:56348774-56348776
36 STAT2 NM_005419.4(STAT2):c.403G>A (p.Glu135Lys) SNV Uncertain significance 957409 GRCh37: 12:56749295-56749295
GRCh38: 12:56355511-56355511
37 STAT2 NM_005419.4(STAT2):c.1558C>G (p.Leu520Val) SNV Uncertain significance 1053598 GRCh37: 12:56742726-56742726
GRCh38: 12:56348942-56348942
38 STAT2 NM_005419.4(STAT2):c.1466C>G (p.Pro489Arg) SNV Uncertain significance 1056621 GRCh37: 12:56742818-56742818
GRCh38: 12:56349034-56349034
39 STAT2 NM_005419.4(STAT2):c.275G>A (p.Arg92Gln) SNV Uncertain significance 1057859 GRCh37: 12:56749926-56749926
GRCh38: 12:56356142-56356142
40 STAT2 NM_005419.4(STAT2):c.1102C>G (p.Pro368Ala) SNV Uncertain significance 1059104 GRCh37: 12:56744209-56744209
GRCh38: 12:56350425-56350425
41 STAT2 NM_005419.4(STAT2):c.633+6A>C SNV Uncertain significance 998419 GRCh37: 12:56748556-56748556
GRCh38: 12:56354772-56354772
42 STAT2 NM_005419.4(STAT2):c.2239C>A (p.Leu747Met) SNV Uncertain significance 999305 GRCh37: 12:56737783-56737783
GRCh38: 12:56343999-56343999
43 STAT2 NM_005419.4(STAT2):c.2284G>A (p.Val762Met) SNV Uncertain significance 1000096 GRCh37: 12:56737738-56737738
GRCh38: 12:56343954-56343954
44 STAT2 NM_005419.4(STAT2):c.1985G>A (p.Arg662His) SNV Uncertain significance 1001244 GRCh37: 12:56740285-56740285
GRCh38: 12:56346501-56346501
45 STAT2 NM_005419.4(STAT2):c.788C>T (p.Thr263Ile) SNV Uncertain significance 1007121 GRCh37: 12:56745229-56745229
GRCh38: 12:56351445-56351445
46 STAT2 NM_005419.4(STAT2):c.2004C>G (p.Ile668Met) SNV Uncertain significance 542346 rs199528062 GRCh37: 12:56740266-56740266
GRCh38: 12:56346482-56346482
47 STAT2 NM_005419.4(STAT2):c.109G>T (p.Val37Phe) SNV Uncertain significance 569571 rs144812882 GRCh37: 12:56750247-56750247
GRCh38: 12:56356463-56356463
48 STAT2 NM_005419.4(STAT2):c.250C>A (p.Gln84Lys) SNV Uncertain significance 636366 rs150901100 GRCh37: 12:56749951-56749951
GRCh38: 12:56356167-56356167
49 STAT2 NM_005419.4(STAT2):c.1088T>C (p.Ile363Thr) SNV Uncertain significance 652735 rs771226498 GRCh37: 12:56744619-56744619
GRCh38: 12:56350835-56350835
50 STAT2 NM_005419.4(STAT2):c.47A>G (p.Asp16Gly) SNV Uncertain significance 863237 GRCh37: 12:56750309-56750309
GRCh38: 12:56356525-56356525
51 STAT2 NM_005419.4(STAT2):c.2474G>A (p.Gly825Asp) SNV Uncertain significance 936063 GRCh37: 12:56737255-56737255
GRCh38: 12:56343471-56343471
52 STAT2 NM_005419.4(STAT2):c.124C>A (p.Gln42Lys) SNV Uncertain significance 948723 GRCh37: 12:56750232-56750232
GRCh38: 12:56356448-56356448
53 STAT2 NM_005419.4(STAT2):c.2236G>C (p.Asp746His) SNV Uncertain significance 1017584 GRCh37: 12:56737786-56737786
GRCh38: 12:56344002-56344002
54 STAT2 NM_005419.4(STAT2):c.381+3G>A SNV Uncertain significance 1018999 GRCh37: 12:56749489-56749489
GRCh38: 12:56355705-56355705
55 STAT2 NM_005419.4(STAT2):c.2008C>T (p.Arg670Trp) SNV Uncertain significance 1019714 GRCh37: 12:56740262-56740262
GRCh38: 12:56346478-56346478
56 STAT2 NM_005419.4(STAT2):c.2059C>T (p.Arg687Trp) SNV Uncertain significance 1021502 GRCh37: 12:56739973-56739973
GRCh38: 12:56346189-56346189
57 STAT2 NM_005419.4(STAT2):c.400C>T (p.Leu134Phe) SNV Uncertain significance 475694 rs1264238680 GRCh37: 12:56749298-56749298
GRCh38: 12:56355514-56355514
58 STAT2 NM_005419.4(STAT2):c.1727G>T (p.Arg576Leu) SNV Uncertain significance 542348 rs200944055 GRCh37: 12:56740737-56740737
GRCh38: 12:56346953-56346953
59 STAT2 NM_005419.4(STAT2):c.1466C>T (p.Pro489Leu) SNV Uncertain significance 636365 rs138681270 GRCh37: 12:56742818-56742818
GRCh38: 12:56349034-56349034
60 STAT2 NM_005419.4(STAT2):c.1693C>T (p.His565Tyr) SNV Uncertain significance 651189 rs143700674 GRCh37: 12:56742344-56742344
GRCh38: 12:56348560-56348560
61 STAT2 NM_005419.4(STAT2):c.737G>C (p.Cys246Ser) SNV Uncertain significance 854611 GRCh37: 12:56748295-56748295
GRCh38: 12:56354511-56354511
62 STAT2 NM_005419.4(STAT2):c.1823G>C (p.Gly608Ala) SNV Uncertain significance 856173 GRCh37: 12:56740641-56740641
GRCh38: 12:56346857-56346857
63 STAT2 NM_005419.4(STAT2):c.1762C>T (p.Arg588Trp) SNV Uncertain significance 934908 GRCh37: 12:56740702-56740702
GRCh38: 12:56346918-56346918
64 STAT2 NM_005419.4(STAT2):c.1922T>C (p.Leu641Pro) SNV Uncertain significance 940253 GRCh37: 12:56740348-56740348
GRCh38: 12:56346564-56346564
65 STAT2 NM_005419.4(STAT2):c.2269T>C (p.Ser757Pro) SNV Uncertain significance 942143 GRCh37: 12:56737753-56737753
GRCh38: 12:56343969-56343969
66 STAT2 NM_005419.4(STAT2):c.135G>T (p.Gln45His) SNV Uncertain significance 971291 GRCh37: 12:56750066-56750066
GRCh38: 12:56356282-56356282
67 STAT2 NC_000012.11:g.(?_56737153)_(56750375_?)dup Duplication Uncertain significance 542355 GRCh37: 12:56737153-56750375
GRCh38: 12:56343369-56356591
68 STAT2 NM_005419.4(STAT2):c.1864A>C (p.Lys622Gln) SNV Uncertain significance 570403 rs151170889 GRCh37: 12:56740406-56740406
GRCh38: 12:56346622-56346622
69 STAT2 NM_005419.4(STAT2):c.1294A>G (p.Ser432Gly) SNV Uncertain significance 573997 rs779466832 GRCh37: 12:56743257-56743257
GRCh38: 12:56349473-56349473
70 STAT2 NM_005419.4(STAT2):c.1345G>A (p.Asp449Asn) SNV Uncertain significance 580406 rs766306027 GRCh37: 12:56743042-56743042
GRCh38: 12:56349258-56349258
71 STAT2 NM_005419.4(STAT2):c.1957_1959GAG[1] (p.Glu654del) Microsatellite Uncertain significance 577456 rs775996290 GRCh37: 12:56740308-56740310
GRCh38: 12:56346524-56346526
72 STAT2 NM_005419.4(STAT2):c.274C>T (p.Arg92Trp) SNV Uncertain significance 978516 rs746815427 GRCh37: 12:56749927-56749927
GRCh38: 12:56356143-56356143
73 STAT2 NM_005419.4(STAT2):c.116T>C (p.Ile39Thr) SNV Uncertain significance 475687 rs757152982 GRCh37: 12:56750240-56750240
GRCh38: 12:56356456-56356456
74 STAT2 NM_005419.4(STAT2):c.2191C>T (p.Pro731Ser) SNV Uncertain significance 650367 rs955030312 GRCh37: 12:56737831-56737831
GRCh38: 12:56344047-56344047
75 STAT2 NM_005419.4(STAT2):c.106G>A (p.Ala36Thr) SNV Uncertain significance 939347 GRCh37: 12:56750250-56750250
GRCh38: 12:56356466-56356466
76 STAT2 NM_005419.4(STAT2):c.418A>G (p.Ser140Gly) SNV Uncertain significance 940912 GRCh37: 12:56749280-56749280
GRCh38: 12:56355496-56355496
77 STAT2 NM_005419.4(STAT2):c.297G>C (p.Gln99His) SNV Uncertain significance 960304 GRCh37: 12:56749576-56749576
GRCh38: 12:56355792-56355792
78 STAT2 NM_005419.4(STAT2):c.1301C>T (p.Thr434Met) SNV Uncertain significance 542347 rs146115536 GRCh37: 12:56743250-56743250
GRCh38: 12:56349466-56349466
79 STAT2 NC_000012.11:g.(?_56739910)_(56750375_?)dup Duplication Uncertain significance 583729 GRCh37: 12:56739910-56750375
GRCh38: 12:56346126-56356591
80 STAT2 NM_005419.4(STAT2):c.34A>G (p.Ser12Gly) SNV Uncertain significance 626024 rs1565660719 GRCh37: 12:56750322-56750322
GRCh38: 12:56356538-56356538
81 STAT2 NC_000012.11:g.(?_56737153)_(56737939_?)dup Duplication Uncertain significance 658970 GRCh37: 12:56737153-56737939
GRCh38: 12:56343369-56344155
82 STAT2 NM_005419.4(STAT2):c.2525C>A (p.Thr842Asn) SNV Uncertain significance 640593 rs1356843849 GRCh37: 12:56737204-56737204
GRCh38: 12:56343420-56343420
83 STAT2 NM_005419.4(STAT2):c.2506C>T (p.Arg836Cys) SNV Uncertain significance 644497 rs752192658 GRCh37: 12:56737223-56737223
GRCh38: 12:56343439-56343439
84 STAT2 NM_005419.4(STAT2):c.538C>G (p.Gln180Glu) SNV Uncertain significance 651710 rs1592489044 GRCh37: 12:56749069-56749069
GRCh38: 12:56355285-56355285
85 STAT2 NM_005419.4(STAT2):c.1344G>A (p.Thr448=) SNV Uncertain significance 652347 rs776389808 GRCh37: 12:56743043-56743043
GRCh38: 12:56349259-56349259
86 STAT2 NM_005419.4(STAT2):c.1320G>A (p.Gln440=) SNV Uncertain significance 653543 rs1292108569 GRCh37: 12:56743231-56743231
GRCh38: 12:56349447-56349447
87 STAT2 NM_005419.4(STAT2):c.2507G>A (p.Arg836His) SNV Uncertain significance 654234 rs759254318 GRCh37: 12:56737222-56737222
GRCh38: 12:56343438-56343438
88 STAT2 NM_005419.4(STAT2):c.2491G>A (p.Glu831Lys) SNV Uncertain significance 654859 rs755127513 GRCh37: 12:56737238-56737238
GRCh38: 12:56343454-56343454
89 STAT2 NM_005419.4(STAT2):c.2030A>G (p.Tyr677Cys) SNV Uncertain significance 657004 rs1592467176 GRCh37: 12:56740240-56740240
GRCh38: 12:56346456-56346456
90 STAT2 NM_005419.4(STAT2):c.1827_1829del (p.Ile610del) Deletion Uncertain significance 659151 rs1592468046 GRCh37: 12:56740635-56740637
GRCh38: 12:56346851-56346853
91 STAT2 NM_005419.4(STAT2):c.1111C>G (p.Gln371Glu) SNV Likely benign 731985 rs142439434 GRCh37: 12:56744200-56744200
GRCh38: 12:56350416-56350416
92 STAT2 NM_005419.4(STAT2):c.1062T>C (p.Asn354=) SNV Likely benign 758589 rs375249113 GRCh37: 12:56744645-56744645
GRCh38: 12:56350861-56350861
93 STAT2 NM_005419.4(STAT2):c.772C>T (p.Leu258=) SNV Likely benign 760538 rs749010133 GRCh37: 12:56748260-56748260
GRCh38: 12:56354476-56354476
94 STAT2 NM_005419.4(STAT2):c.378A>G (p.Gln126=) SNV Likely benign 765697 rs112826194 GRCh37: 12:56749495-56749495
GRCh38: 12:56355711-56355711
95 STAT2 NM_005419.4(STAT2):c.2127G>A (p.Pro709=) SNV Likely benign 769390 rs140174092 GRCh37: 12:56737895-56737895
GRCh38: 12:56344111-56344111
96 STAT2 NM_005419.4(STAT2):c.1462C>G (p.Pro488Ala) SNV Likely benign 769825 rs750338004 GRCh37: 12:56742822-56742822
GRCh38: 12:56349038-56349038
97 STAT2 NM_005419.4(STAT2):c.1263A>C (p.Pro421=) SNV Likely benign 791739 rs140141365 GRCh37: 12:56743288-56743288
GRCh38: 12:56349504-56349504
98 STAT2 NM_005419.4(STAT2):c.286-5T>C SNV Likely benign 792218 rs111889584 GRCh37: 12:56749592-56749592
GRCh38: 12:56355808-56355808
99 STAT2 NM_005419.4(STAT2):c.2044+9C>T SNV Likely benign 542350 rs200444661 GRCh37: 12:56740217-56740217
GRCh38: 12:56346433-56346433
100 STAT2 NM_005419.4(STAT2):c.2044+10G>A SNV Likely benign 542351 rs752483816 GRCh37: 12:56740216-56740216
GRCh38: 12:56346432-56346432
101 STAT2 NM_005419.4(STAT2):c.1629+7C>T SNV Likely benign 542354 rs1555170176 GRCh37: 12:56742529-56742529
GRCh38: 12:56348745-56348745
102 STAT2 NM_005419.4(STAT2):c.285+5T>C SNV Likely benign 542353 rs79264292 GRCh37: 12:56749911-56749911
GRCh38: 12:56356127-56356127
103 STAT2 NM_005419.4(STAT2):c.2478G>T (p.Gln826His) SNV Benign 475692 rs2229363 GRCh37: 12:56737251-56737251
GRCh38: 12:56343467-56343467
104 STAT2 NM_005419.4(STAT2):c.1343C>T (p.Thr448Met) SNV Benign 475688 rs2066815 GRCh37: 12:56743044-56743044
GRCh38: 12:56349260-56349260
105 STAT2 NM_005419.4(STAT2):c.1326G>A (p.Leu442=) SNV Benign 542352 rs529406351 GRCh37: 12:56743225-56743225
GRCh38: 12:56349441-56349441
106 STAT2 NM_005419.4(STAT2):c.379T>C (p.Leu127=) SNV Benign 475693 rs2066812 GRCh37: 12:56749494-56749494
GRCh38: 12:56355710-56355710
107 STAT2 NM_005419.4(STAT2):c.1390A>G (p.Ile464Val) SNV Benign 475689 rs2066811 GRCh37: 12:56742997-56742997
GRCh38: 12:56349213-56349213
108 STAT2 NM_005419.4(STAT2):c.165G>A (p.Lys55=) SNV Benign 475690 rs199622368 GRCh37: 12:56750036-56750036
GRCh38: 12:56356252-56356252
109 STAT2 NM_005419.4(STAT2):c.1782G>C (p.Met594Ile) SNV Benign 403493 rs2066807 GRCh37: 12:56740682-56740682
GRCh38: 12:56346898-56346898
110 STAT2 NM_005419.4(STAT2):c.759C>T (p.His253=) SNV Benign 403494 rs147605088 GRCh37: 12:56748273-56748273
GRCh38: 12:56354489-56354489
111 STAT2 NM_005419.4(STAT2):c.2472_2473delinsCT (p.Gly825Cys) Indel Benign 475691 rs1555169006 GRCh37: 12:56737256-56737257
GRCh38: 12:56343472-56343473

Expression for Immunodeficiency 44

Search GEO for disease gene expression data for Immunodeficiency 44.

Pathways for Immunodeficiency 44

Pathways related to Immunodeficiency 44 according to GeneCards Suite gene sharing:

(showing 14, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.37 STAT2 IFNAR2
2
Show member pathways
12.32 STAT2 IFNAR2
3 12.24 STAT2 IFNAR2
4
Show member pathways
12.2 STAT2 IFNAR2
5 12.17 STAT2 IFNAR2
6
Show member pathways
12.03 STAT2 IFNAR2
7
Show member pathways
11.9 STAT2 IFNAR2
8
Show member pathways
11.77 STAT2 IFNAR2
9
Show member pathways
11.64 STAT2 IFNAR2
10 11.58 STAT2 IFNAR2
11
Show member pathways
11.49 STAT2 IFNAR2
12 11.11 STAT2 IFNAR2
13 10.7 STAT2 IFNAR2
14
Show member pathways
9.98 STAT2 IFNAR2

GO Terms for Immunodeficiency 44

Biological processes related to Immunodeficiency 44 according to GeneCards Suite gene sharing:

(showing 4, show less)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.26 STAT2 IFNAR2
2 defense response to virus GO:0051607 9.16 STAT2 IFNAR2
3 type I interferon signaling pathway GO:0060337 8.96 STAT2 IFNAR2
4 JAK-STAT cascade GO:0007259 8.62 STAT2 IFNAR2

Sources for Immunodeficiency 44

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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