II
MCID: BLD140
MIFTS: 47

Blood Group, I System (II)

Categories: Blood diseases, Genetic diseases

Aliases & Classifications for Blood Group, I System

MalaCards integrated aliases for Blood Group, I System:

Name: Blood Group, I System 57
I Blood Group System 57 29 6
Adult I Phenotype Without Cataract 57
Ii Blood Group System 57
Type 2 6
Ii 57

Characteristics:

OMIM®:

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

Miscellaneous:
after birth, i antigen levels increase gradually as i antigen levels fall, with the normal ii status of adult rbcs reached after about 13 to 20 months
adult i phenotype can be associated with congenital cataract (see )


HPO:

31
blood group, i system:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 110800
MedGen 41 C0020717
SNOMED-CT via HPO 68 263681008

Summaries for Blood Group, I System

OMIM® : 57 The i and I antigens of the I blood group system are carbohydrate structures carried on glycolipids and glycoproteins and are characterized as straight or branched glycochains composed of repeating N-acetyllactosamine (LacNAc) units, respectively. Conversion of i antigen into an I-active structure requires the activity of the I-branching enzyme, beta-1,6-N-acetylglucosaminyltransferase (GCNT2; 600429), which adds the decisive GlcNAc-beta-1-6 branch onto the straight poly-LacNAc chains. Expression of the i and I antigens on red blood cells (RBCs) is reciprocal and developmentally regulated. Adult human RBCs predominantly express I antigen, whereas fetal and neonatal RBCs predominantly express i antigen. After birth, I antigen levels increase gradually as i antigen levels fall, with the normal Ii status of adult RBCs reached after about 13 to 20 months. Mutations that specifically affect 1 of the 3 variants produced by the GCNT2 gene cause the rare adult i phenotype, in which adult RBCs are rich in i antigen and contain low levels of I antigen. Mutations that eliminate all 3 GCNT2 variants cause the adult i phenotype with congenital cataract (CTRCT13; 116700) (review by Yu and Lin, 2011). (110800) (Updated 20-May-2021)

MalaCards based summary : Blood Group, I System, also known as i blood group system, is related to otopalatodigital syndrome, type ii and frontometaphyseal dysplasia. An important gene associated with Blood Group, I System is GCNT2 (Glucosaminyl (N-Acetyl) Transferase 2 (I Blood Group)). The drugs Ramipril and Terlipressin have been mentioned in the context of this disorder. Affiliated tissues include endothelial, liver and bone, and related phenotype is blood group antigen abnormality.

Related Diseases for Blood Group, I System

Diseases in the Blood Group--Ul System family:

Blood Group, I System Blood Group, P1pk System

Diseases related to Blood Group, I System via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 3422)
# Related Disease Score Top Affiliating Genes
1 otopalatodigital syndrome, type ii 31.9 LOC107988032 FLNA
2 frontometaphyseal dysplasia 30.9 LOC107988032 FLNA
3 fg syndrome 2 30.8 LOC107988032 FLNA
4 terminal osseous dysplasia 30.7 LOC107988032 FLNA
5 oto-palatal-digital syndrome 30.7 LOC107988032 FLNA
6 melnick-needles syndrome 30.5 LOC107988032 FLNA
7 periventricular nodular heterotopia 29.0 LOC107988032 FLNA
8 cardiac valvular dysplasia, x-linked 28.8 LOC107988032 FLNA
9 type 2 diabetes mellitus 12.0
10 diabetes mellitus 11.8
11 neurofibromatosis, type ii 11.6
12 macular telangiectasia type 2 11.6
13 griscelli syndrome, type 2 11.6
14 autoimmune polyendocrine syndrome, type ii 11.5
15 hemochromatosis type 2 11.5
16 myotonic dystrophy 2 11.5
17 spinocerebellar ataxia 2 11.5
18 atelosteogenesis, type ii 11.5
19 charcot-marie-tooth disease, axonal, type 2e 11.5
20 waardenburg syndrome, type 2e 11.5
21 episodic ataxia, type 2 11.5
22 bile acid synthesis defect, congenital, 2 11.5
23 spastic paraplegia 2, x-linked 11.5
24 multiple endocrine neoplasia, type iia 11.5
25 stuve-wiedemann syndrome 11.5
26 von willebrand disease, type 2 11.5
27 hyperoxaluria, primary, type ii 11.5
28 ehlers-danlos syndrome, spondylodysplastic type, 2 11.5
29 generalized epilepsy with febrile seizures plus, type 2 11.5
30 lipodystrophy, familial partial, type 2 11.5
31 immunodeficiency with hyper-igm, type 2 11.5
32 glycogen storage disease ii 11.5
33 crigler-najjar syndrome, type ii 11.4
34 gm1-gangliosidosis, type ii 11.4
35 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 11.4
36 gaucher disease, type ii 11.4
37 thanatophoric dysplasia, type ii 11.4
38 maturity-onset diabetes of the young, type 2 11.4
39 anemia, congenital dyserythropoietic, type ii 11.4
40 hyperprolinemia, type ii 11.4
41 kenny-caffey syndrome, type 2 11.4
42 pfeiffer syndrome 11.4
43 lipodystrophy, congenital generalized, type 2 11.4
44 dentinogenesis imperfecta type 2 11.4
45 pontocerebellar hypoplasia, type 2e 11.4
46 palmoplantar keratoderma, punctate type ii 11.4
47 ehlers-danlos syndrome, musculocontractural type, 2 11.4
48 bartter syndrome, type 2, antenatal 11.4
49 spondyloepiphyseal dysplasia, maroteaux type 11.4
50 simpson-golabi-behmel syndrome, type 2 11.4

Graphical network of the top 20 diseases related to Blood Group, I System:



Diseases related to Blood Group, I System

Symptoms & Phenotypes for Blood Group, I System

Human phenotypes related to Blood Group, I System:

31
# Description HPO Frequency HPO Source Accession
1 blood group antigen abnormality 31 HP:0010970

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Hematology:
blood group ii phenotype
adult i phenotype

Clinical features from OMIM®:

110800 (Updated 20-May-2021)

Drugs & Therapeutics for Blood Group, I System

Drugs for Blood Group, I System (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 920)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ramipril Approved Phase 4 87333-19-5 5362129
2
Terlipressin Approved, Investigational Phase 4 14636-12-5 72081
3
Candesartan cilexetil Approved Phase 4 145040-37-5 2540
4
Cilazapril Approved Phase 4 88768-40-5, 92077-78-6 56329 56330
5
Fosinopril Approved Phase 4 98048-97-6 55891
6
Spirapril Approved Phase 4 83647-97-6 5311447
7
Zofenopril Approved Phase 4 81872-10-8
8
Petrolatum Approved, Investigational Phase 4 8009-03-8
9
Adalimumab Approved, Experimental Phase 4 331731-18-1 16219006
10
Dimethyl fumarate Approved, Investigational Phase 4 624-49-7 637568 5271565
11
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
12
Zaleplon Approved, Illicit, Investigational Phase 4 151319-34-5 5719
13
Methyldopa Approved Phase 4 555-30-6 38853
14
Nifedipine Approved Phase 4 21829-25-4 4485
15
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
16
Glyburide Approved Phase 4 10238-21-8 3488
17
Neomycin Approved, Vet_approved Phase 4 1404-04-2 8378
18
Polymyxin B Approved, Vet_approved Phase 4 1404-26-8
19
Methylcobalamin Approved, Investigational Phase 4 13422-55-4
20
Simvastatin Approved Phase 4 79902-63-9 54454
21
Hydroxocobalamin Approved Phase 4 13422-51-0 11953898 15589840
22
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
23
Bosentan Approved, Investigational Phase 4 147536-97-8 104865
24
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
25
Altretamine Approved Phase 4 645-05-6 2123
26
Norepinephrine Approved Phase 4 51-41-2 439260
27 Strawberry Approved Phase 4
28
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
29
Gliquidone Approved, Investigational Phase 4 33342-05-1 91610
30
Tolbutamide Approved, Investigational Phase 4 64-77-7 5505
31
Epoprostenol Approved Phase 4 61849-14-7, 35121-78-9 5280427 5282411
32
Cholecystokinin Approved, Investigational Phase 4 9011-97-6
33
Metoprolol Approved, Investigational Phase 4 51384-51-1, 37350-58-6 4171
34
Bromocriptine Approved, Investigational Phase 4 25614-03-3 31101
35
Nitroprusside Approved, Investigational Phase 4 15078-28-1 11963622
36
Dextromethorphan Approved Phase 4 125-71-3 5360696 5362449
37
Acetaminophen Approved Phase 4 103-90-2 1983
38
Enalapril Approved, Vet_approved Phase 4 75847-73-3 5362032 40466924
39
Enalaprilat Approved Phase 4 76420-72-9 6917719
40
Nutmeg Approved Phase 4
41
Perindopril Approved Phase 4 107133-36-8, 82834-16-0 107807
42
Pramlintide Approved, Investigational Phase 4 151126-32-8
43
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
44
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
45
Indapamide Approved Phase 4 26807-65-8 3702
46 Ginger Approved Phase 4
47
Histamine Approved, Investigational Phase 4 51-45-6, 75614-87-8 774
48
Irbesartan Approved, Investigational Phase 4 138402-11-6 3749
49
Olmesartan Approved, Investigational Phase 4 144689-24-7, 144689-63-4 158781 130881
50
Lactulose Approved Phase 4 4618-18-2 11333

Interventional clinical trials:

(show top 50) (show all 7895)
# Name Status NCT ID Phase Drugs
1 The Efficacy and Safety of Sodium-glucose Co-transporter 2 Inhibitor or Dipeptidyl Peptidase 4 Inhibitor Added to Premix Insulin Injection Twice Daily in Uncontrolled Type 2 Diabetes Patients Unknown status NCT03458715 Phase 4 SGLT2 inhibitor (Empagliflozin 25 MG);DPP4 inhibitor (Linagliptin 5 MG)
2 Study of Comparison the Treatment Effect Between Gastric Bypass and Exenatide in Type 2 Diabetes Unknown status NCT01435980 Phase 4 Exenatide
3 Chronic Cold Acclimation Stimulates the Browning of Subcutaneous White Adipose in Patients With Type 2 Diabetes Mellitus Unknown status NCT02775253 Phase 4
4 The Effects of OMACOR on the LDL Sub-fraction in Korean Type 2 Diabetic Patients With Combined Hyperlipidemia Unknown status NCT00758927 Phase 4 Omega-3 acid 4 grams per day;Placebo control
5 Chinese PLA General Hospital Hainan Branch Unknown status NCT03602638 Phase 4 Sitagliptin;Acarbose
6 A Randomized, Non-inferiority, Open-label Clinical Trial to Evaluate the Safety and Efficacy of GAcarbose+Saxagliptin Compared With Metformin+Saxagliptin in Patients With Type 2 Diabetes in Chinese Unknown status NCT02605772 Phase 4 Acarbose;Metformin;Saxagliptin
7 Pharmacodynamics Study to Investigate the Effect of Evogliptin on Bone Metabolism in Healthy Volunteers Unknown status NCT02587975 Phase 4 Evogliptin
8 Effects of Dapagliflozin on Hyperlipidemia, Glycemic Control and Insulin Resistance in Type 2 Diabetic Patients (DAPHNIS Study) Unknown status NCT02577159 Phase 4 Dapagliflozin
9 A Phase IV, Multicenter, Randomized, Active Comparator Controlled Study of the Addition of Pioglitazone Compared With Glimepiride in Subjects With Type 2 Diabetes Mellitus Who Have Inadequate Glycemic Control on Metformin and Alogliptin Unknown status NCT02426294 Phase 4 Pioglitazone;Glimepiride
10 The Effects of Short-Term Exenatide Therapy on the Beta-Cell Function and Long-term Glycemic Control in Newly Diagnosed Type 2 Diabetic Patients Unknown status NCT01270191 Phase 4 Exenatide;Humulin-N
11 Type 2 Diabetes Mellitus: Role of Inflammation and Innate Immunity in The Pathogenesis of Endothelial Dysfunction and Atherosclerosis Unknown status NCT01250340 Phase 4 Aspirin;Placebo
12 Investigation of a Switch From Insulin Therapy to a Metformin & Saxagliptin Combination in Patients With Type 2 Diabetes Mellitus Unknown status NCT01206647 Phase 4 Metformin and Saxagliptin
13 Effects of Dipeptidyl Peptidase-4 Inhibition With Saxagliptin on Fasting and Postprandial Triglyceride Concentrations Unknown status NCT01527747 Phase 4 Saxagliptin
14 A Study on the Anti-proteinuric Effects of Pioglitazone in Patients With Type 2 Diabetes. Unknown status NCT00749047 Phase 4 Pioglitazone
15 A Pilot Study to Determine the Impact of Real-Time Continuous Glucose Monitoring (CGM) on Patients With Type 2 Diabetes Unknown status NCT00529815 Phase 4
16 A Prospective, Randomized, Two Period, With an Intermediate Wash Out Period, Cross-over Study to Compare the Effects of Either Combined Therapy With Ramipril and Clopidogrel or Ramipril Monotherapy on Oxidative Stress, Vascular Inflammation and Endothelial Dysfunction in Patients With Type 2 Diabetes and Diabetic Nephropathy Unknown status NCT01743014 Phase 4 Ramipril;Clopidogrel
17 ß-Cell Function and Glycemic Control of Basal Insulin, Metformin or Sitagliptin in Newly Diagnosed Type 2 Diabetic Patients With Moderate Hyperglycemia Unknown status NCT01717911 Phase 4 Insulin;Metformin;Sitagliptin
18 A Double Blind, Randomized, Investigator Initiated Study on Glucose-Lowering Effects and Safety of Adding 0.25 or 0.5 mg Duvie (Lobeglitazone) in Patients With Type 2 Diabetes With Inadequate Control on Metformin and DPP-4 Inhibitor Therapy Unknown status NCT03770052 Phase 4 duvie
19 Beijing Chao-yang Hospital, Capital Medical University Unknown status NCT02583438 Phase 4 Saxagliptin (Bristol-Myers Squibb Company)
20 Comparison of Glycaemic Fluctuation and Oxidative Stress Between Two Short-term Therapies for Type 2 Diabetes Unknown status NCT02526810 Phase 4 insulin lispro;Insulin Glargine
21 The Effect of the GLP-1 Receptor Agonists on Blood Levels of Lipoprotein (a) Unknown status NCT02501850 Phase 4 Liraglutide;metformin
22 Explore the Efficacy of Acarbose and Metformin on Blood Glucose Fluctuation When Combined With Premix Insulin in Chinese Type 2 Diabetes by CGMS Unknown status NCT02438397 Phase 4 premix insulin;metformin;Acarbose
23 Metabolism-independent Vascular Effects of the Dipetidylpeptidase-4-inhibitor Sitagliptin in Patients With Type 2 Diabetes Mellitus Unknown status NCT01096277 Phase 4 Sitagliptin;Placebo
24 Antiatherogenic and Antimetabolic Effect of Curcumin Therapy in the Prevention and Delay of Type 2 Diabetic in Patients With Impaired Glucose Tolerance and Insulin Resistance Unknown status NCT01052025 Phase 4 Curcumin
25 Study Effects of Ginkgo Biloba Extract on Endothelial Cell Function and Genetic Effects on the Response to Ginkgo Biloba Extract in Diabetic Patients With Stable Coronary Artery Disease Unknown status NCT01038050 Phase 4 Ginkgo Biloba Extract (GBE)
26 Organization Program of DiabEtes INsulIN ManaGement: An Open, Multi-center, Prospective, Randomized, 16-week, Controlled Clinical Study Unknown status NCT01338376 Phase 4 Scilin®M30
27 The Efficacy and Safety of Ursodeoxycholic Acid (UDCA) Added to the Dipeptidyl Peptidase-4 Inhibitor, Sitagliptin in People With Type 2 Diabetes and Chronic Liver Diseases Unknown status NCT01337440 Phase 4 UDCA;Sitagliptin
28 Continuous Subcutaneous Insulin Infusion strAtegy Versus Multiple Daily Insulin Injections strAtegy Unknown status NCT01574508 Phase 4 Transient Continuous Subcutaneous Insulin Infusion;Transient Multiple Daily Insulin Injections
29 Randomized, Long-Term Study About the Effects of Analogue Versus Human Insulin Based Regimens (Insulin Detemir and Aspart Versus NPH- and Regular Human Insulin) on Metabolic Control and Myocardial Function in People With Type 2 Diabetes. Unknown status NCT00747409 Phase 4 insulin aspart and detemir (NovoRapid, Levemir);human regular insulin and NPH insulin (Actrapid, Protaphne)
30 Effects of Sitagliptin On Markers of Bone Turnover in Patients With Type 2 Diabetes Unknown status NCT00732121 Phase 4 Sitagliptin;Placebo
31 Effects of Cilostazol on Plasma Adipocytokine and Arterial Stiffness in Type 2 Diabetes Patient With Metabolic Syndrome (Randomized, Double-Blind, Placebo-Controled, Cross-Over Study) Unknown status NCT00573950 Phase 4 cilostazol;Placebo
32 Prospective Influence of Bedtime Insulin Glargine on Mobilization and Function of Endothelial Progenitor Cells in Patients With Type 2 Diabetes: a Partially Double-Blind, Randomized, Three-Arm Unicenter Study Unknown status NCT00523393 Phase 4 Insulin Glargin;Human Insulin
33 Effect of Dapagliflozin on Cardio-Metabolic Risk Factors in Patients With Type-2 Diabetes Unknown status NCT03377335 Phase 4 Dapagliflozin 10mg;Metformin
34 Safety of Add on Aliskiren to ACEI and ARB Treatment in Type 2 Diabetes With Nephropathy Unknown status NCT00949351 Phase 4 Aliskiren 300mg/d
35 Multi-Center, Randomized, Open Label Study of the Efficacy of Cilostazol Versus Aspirin for Primary Prevention of Atherosclerotic Events With Korean Type 2 DM Patients Unknown status NCT00886574 Phase 4 Cilostazol;Aspirin
36 Endobarrier Treatment in Obese Subjects With T2DM Unknown status NCT01718457 Phase 4
37 To Compare the Efficacy and Safety Between Pioglitazone Added to Combination Therapy of Sulfonylurea Plus Metformin and Placebo Control Group in Patients With Type 2 Diabetes Unknown status NCT00991055 Phase 4 Pioglitazone
38 The Effect of a Circuit Resistance Training, Empagliflozin or "Vegeterranean Diet" on Physical and Metabolic Function in Elderly Subjects With Type 2 Diabetes: a Study Protocol for a Randomized Control Trial (CEV-65 Trial) Unknown status NCT03560375 Phase 4 Empagliflozin 10 MG
39 PRotective Effect on the Coronary Microcirculation of Patients With DIabetes by Clopidogrel or Ticagrelor Unknown status NCT02698618 Phase 4 Randomization
40 What is the Effects of Prokinetic Drug on the Blood Glucose in Type 2 Diabetes Patients: Mosapride Comparing Placebo Unknown status NCT02606617 Phase 4 Mosapride;Placebo
41 A Randomized, Double-blind, Active Control, Parallel Group, Exploratory Phase IV Study to Compare the Effects of Tenelia® or Januvia® on Glucose Variability in add-on to Metformin in Patients With Inadequately Controlled Type2 Diabetes Mellitus in Metformin Only Treatment Unknown status NCT02512523 Phase 4 Teneligliptin;Sitagliptin
42 Efficacy and Safety of Lobeglitazone Versus Sitagliptin in Inadequately Controlled by Metformin Alone Type 2 Diabetes Mellitus Patients With Metabolic Syndrome: 24-week, Multi-center, Randomized, Double-blind, Phase 4 Study Unknown status NCT02480465 Phase 4 Lobelitazone 0.5mg;Sitagliptin 100mg
43 Dapagliflozin Effect on Erythropoiesis and Physical Fitness in Patients With Type 2 Diabetes - a Randomized, Double-blind, Controlled, Parallel Group, Exploratory Study Unknown status NCT03423355 Phase 4 Dapagliflozin 10mg;Hydrochlorothiazide 25 mg
44 The Swiss Glucose Variability Study Unknown status NCT01426737 Phase 4 Vildagliptin
45 Human Insulin Analogs: Evaluation of Inflammatory mRNA Expression of Macrophages and Endothelial Function of Short-acting Insulin - HERMES Pilot Study Unknown status NCT01417897 Phase 4 Insulin glulisine;Insulin aspart;Regular human insulin
46 Short Term Diet Intervention in Newly Diagnosed Type 2 Diabetes. a Randomised, Multicentric, Controlled, Clinical Trial Unknown status NCT01409330 Phase 4
47 A Pilot Study of Outpatient Discharge Therapy With Saxagliptin + Metformin XR or Sulphonylurea for Recently Diagnosed Type 2 Diabetes Presenting With Severe Hyperglycemia Unknown status NCT01267448 Phase 4 Glipizide XL;Saxagliptin + Metformin XR;Metformin XR
48 Multicenter, Randomized Trial Designed to Evaluate the Applicability of the Guidelines of the Italian Society of Diabetology for the Prevention of Cardiovascular Diseases in Type 2 Diabetes Unknown status NCT01240070 Phase 4
49 Effect of Linagliptin in Comparison With Glimepiride as Add on to Metformin on Postprandial Beta Cell Function, Postprandial Metabolism and Oxidative Stress in Patients With Type 2 Diabetes Mellitus Unknown status NCT01547104 Phase 4 Linagliptin;Glimepiride
50 Effect of Liraglutide on Fatty Liver Content Evaluated by Proton-spectroscopy (1H-spectroscopy) and Lipoprotein Kinetic, in Patients With Type 2 Diabetes Unknown status NCT02721888 Phase 4 Liraglutide;MRI/ MRS (Magnetic Resonance Imaging /Magnetic Resonance Spectroscopy)

Search NIH Clinical Center for Blood Group, I System

Genetic Tests for Blood Group, I System

Genetic tests related to Blood Group, I System:

# Genetic test Affiliating Genes
1 I Blood Group System 29 GCNT2

Anatomical Context for Blood Group, I System

MalaCards organs/tissues related to Blood Group, I System:

40
Endothelial, Liver, Bone, Kidney, Heart, Skin, Skeletal Muscle

Publications for Blood Group, I System

Articles related to Blood Group, I System:

(show all 46)
# Title Authors PMID Year
1
Molecular genetics of the blood group I system and the regulation of I antigen expression during erythropoiesis and granulopoiesis. 57 61
21912254 2011
2
Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings. 6
30561107 2019
3
Gain-of-Function Mutation in Filamin A Potentiates Platelet Integrin αIIbβ3 Activation. 6
28428218 2017
4
A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation. 6
26804200 2016
5
Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R. 6
26686323 2016
6
47 patients with FLNA associated periventricular nodular heterotopia. 6
26471271 2015
7
Anetoderma in a patient with terminal osseous dysplasia with pigmentary defects. 6
26059211 2015
8
Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA. 6
25686753 2015
9
Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation. 6
25614868 2014
10
Novel no-stop FLNA mutation causes multi-organ involvement in males. 6
23873601 2013
11
Combined cardiological and neurological abnormalities due to filamin A gene mutation. 6
20730588 2011
12
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. 6
20598277 2010
13
Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders. 6
19773341 2009
14
Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings. 6
17431908 2007
15
A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation. 6
17264970 2007
16
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. 6
16835913 2006
17
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. 6
16684786 2006
18
Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia. 6
16596676 2006
19
Periventricular heterotopia: new insights into Ehlers-Danlos syndrome. 6
16303888 2005
20
Filamin A: phenotypic diversity. 6
15917206 2005
21
A new three-generational family with frontometaphyseal dysplasia, male-to-female transmission, and a previously reported FLNA mutation. 6
15523633 2005
22
Molecular pathology of filamin A: diverse phenotypes, many functions. 6
15194946 2004
23
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 6
12612583 2003
24
The molecular genetics of the human I locus and molecular background explain the partial association of the adult i phenotype with congenital cataracts. 57
12424189 2003
25
Molecular basis of the adult i phenotype and the gene responsible for the expression of the human blood group I antigen. 57
11739194 2001
26
Control of O-glycan branch formation. Molecular cloning of human cDNA encoding a novel beta1,6-N-acetylglucosaminyltransferase forming core 2 and core 4. 57
9988682 1999
27
Molecular cloning and expression of a novel beta-1, 6-N-acetylglucosaminyltransferase that forms core 2, core 4, and I branches. 57
9915862 1999
28
Fine mapping of 39 ESTs on human chromosome 6p23-p25. 57
9417921 1997
29
Expression of the developmental I antigen by a cloned human cDNA encoding a member of a beta-1,6-N-acetylglucosaminyltransferase gene family. 57
8449405 1993
30
Blood group ABH and Ii antigens of human erythrocytes: chemistry, polymorphism, and their developmental change. 57
6782678 1981
31
Anti-i: a cold antibody defining the Ii relationship in human red cells. 57
13767181 1961
32
Anti-i: a new cold antibody. 57
13767180 1960
33
Type-specific cold auto-antibodies as a cause of acquired hemolytic anemia and hemolytic transfusion reactions: biologic test with bovine red cells. 57
13292836 1956
34
Updates on practical ABC blood compatibility testing in cats. 61
31814091 2019
35
An update on the I blood group system. 61
31621365 2019
36
Association of ABO(H) and I blood group system development with von Willebrand factor and Factor VIII plasma levels in children and adolescents. 61
20210927 2010
37
[I blood group system and antibodies]. 61
16111371 2005
38
Resistance to natural and controlled exposures to Eimeria tenella: genetic variation and alloantigen systems. 61
3797370 1986
39
A human monoclonal antibody directed to blood group i antigen: heterohybridoma between human lymphocytes from regional lymph nodes of a lung cancer patient and mouse myeloma. 61
2422274 1986
40
Isoenzymes of alkaline phosphatase in serum of lambs and ewes. 61
1166116 1975
41
An interaction between diet and blood group upon serum alkaline phosphatase activity in lambs. 61
1129535 1975
42
[Immunohematological studies on Behçet's disease. Histocompatibility (HL-A) antigens and I blood group system (author's transl)]. 61
4797116 1973
43
The I blood group system of rhesus monkeys. 61
5002877 1971
44
I blood group system and its relationship to disease. 61
5638906 1968
45
I blood group system and its relation to other blood group systems. 61
6042106 1967
46
Anti-I-t: a new antibody of the I-blood-group system occurring in certain Melanesian sera. 61
5935991 1966

Variations for Blood Group, I System

ClinVar genetic disease variations for Blood Group, I System:

6 (show top 50) (show all 809)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FLNA NM_001110556.2(FLNA):c.629G>T (p.Cys210Phe) SNV Pathogenic 11773 rs137853318 GRCh37: X:153596100-153596100
GRCh38: X:154367732-154367732
2 FLNA NM_001110556.2(FLNA):c.3668C>T (p.Pro1223Leu) SNV Pathogenic 405445 rs1060500716 GRCh37: X:153588495-153588495
GRCh38: X:154360127-154360127
3 FLNA NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu) SNV Pathogenic 11759 rs28935473 GRCh37: X:153588567-153588567
GRCh38: X:154360199-154360199
4 FLNA NM_001110556.2(FLNA):c.999_1008dup (p.Asp337delinsArgGlnTer) Duplication Pathogenic 465027 rs1557179357 GRCh37: X:153594986-153594987
GRCh38: X:154366618-154366619
5 FLNA NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu) SNV Pathogenic 11761 rs137853312 GRCh37: X:153588606-153588606
GRCh38: X:154360238-154360238
6 FLNA NM_001110556.2(FLNA):c.3865G>T (p.Gly1289Ter) SNV Pathogenic 574177 rs1557177623 GRCh37: X:153588214-153588214
GRCh38: X:154359846-154359846
7 FLNA NM_001110556.2(FLNA):c.5643del (p.Asn1881fs) Deletion Pathogenic 575768 rs1569551502 GRCh37: X:153582326-153582326
GRCh38: X:154353958-154353958
8 FLNA NM_001110556.2(FLNA):c.676C>T (p.Arg226Ter) SNV Pathogenic 580826 rs1569551861 GRCh37: X:153596053-153596053
GRCh38: X:154367685-154367685
9 FLNA NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg) SNV Pathogenic 209154 rs797045044 GRCh37: X:153586596-153586596
GRCh38: X:154358228-154358228
10 FLNA NM_001110556.2(FLNA):c.5879dup (p.Met1960fs) Duplication Pathogenic 647567 rs1603359464 GRCh37: X:153581806-153581807
GRCh38: X:154353438-154353439
11 FLNA NM_001110556.2(FLNA):c.2565+1G>A SNV Pathogenic 575118 rs786205186 GRCh37: X:153590785-153590785
GRCh38: X:154362417-154362417
12 FLNA NM_001110556.2(FLNA):c.2452del (p.Ala818fs) Deletion Pathogenic 659278 rs1603361851 GRCh37: X:153590899-153590899
GRCh38: X:154362531-154362531
13 FLNA NM_001110556.2(FLNA):c.5760C>A (p.Cys1920Ter) SNV Pathogenic 856285 GRCh37: X:153582022-153582022
GRCh38: X:154353654-154353654
14 FLNA NM_001110556.2(FLNA):c.1034G>A (p.Trp345Ter) SNV Pathogenic 853726 GRCh37: X:153594961-153594961
GRCh38: X:154366593-154366593
15 FLNA NM_001110556.2(FLNA):c.1159C>T (p.Gln387Ter) SNV Pathogenic 864458 GRCh37: X:153594745-153594745
GRCh38: X:154366377-154366377
16 FLNA NM_001110556.2(FLNA):c.1087C>T (p.Gln363Ter) SNV Pathogenic 967048 GRCh37: X:153594817-153594817
GRCh38: X:154366449-154366449
17 FLNA NM_001110556.2(FLNA):c.1932_1938del (p.Val645fs) Deletion Pathogenic 940733 GRCh37: X:153592978-153592984
GRCh38: X:154364610-154364616
18 FLNA NM_001110556.2(FLNA):c.3742C>T (p.Gln1248Ter) SNV Pathogenic 941466 GRCh37: X:153588421-153588421
GRCh38: X:154360053-154360053
19 FLNA NM_001110556.2(FLNA):c.5217G>A (p.Thr1739=) SNV Pathogenic 11775 rs387907371 GRCh37: X:153583193-153583193
GRCh38: X:154354825-154354825
20 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7612_7613del (p.Leu2538fs) Microsatellite Pathogenic 938503 GRCh37: X:153577873-153577874
GRCh38: X:154349505-154349506
21 FLNA NM_001110556.2(FLNA):c.7255C>T (p.Arg2419Ter) SNV Pathogenic 234717 rs782308324 GRCh37: X:153578477-153578477
GRCh38: X:154350109-154350109
22 FLNA NM_001110556.2(FLNA):c.4824C>A (p.Tyr1608Ter) SNV Pathogenic 959369 GRCh37: X:153585923-153585923
GRCh38: X:154357555-154357555
23 FLNA NM_001110556.2(FLNA):c.6586del (p.His2196fs) Deletion Pathogenic 964600 GRCh37: X:153580732-153580732
GRCh38: X:154352364-154352364
24 FLNA NM_001110556.2(FLNA):c.2283dup (p.Asn762fs) Duplication Pathogenic 959608 GRCh37: X:153591149-153591150
GRCh38: X:154362781-154362782
25 FLNA NM_001110556.2(FLNA):c.3296_3304delinsTCGG (p.Gly1099fs) Indel Pathogenic 662513 rs1603361195 GRCh37: X:153588859-153588867
GRCh38: X:154360491-154360499
26 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7872_7873del (p.Glu2625fs) Deletion Pathogenic 652215 rs1603358246 GRCh37: X:153577288-153577289
GRCh38: X:154348920-154348921
27 FLNA NM_001110556.2(FLNA):c.3814del (p.Arg1272fs) Deletion Pathogenic 533585 rs1557177636 GRCh37: X:153588265-153588265
GRCh38: X:154359897-154359897
28 FLNA NM_001110556.2(FLNA):c.3529G>T (p.Glu1177Ter) SNV Pathogenic 533562 rs1557177738 GRCh37: X:153588634-153588634
GRCh38: X:154360266-154360266
29 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7779_7780insTTCGGGG (p.Val2594fs) Insertion Pathogenic 453200 rs1557175195 GRCh37: X:153577381-153577382
GRCh38: X:154349013-154349014
30 FLNA NM_001110556.2(FLNA):c.4840_4852del (p.Gly1614fs) Deletion Pathogenic 464997 rs1557177086 GRCh37: X:153585895-153585907
GRCh38: X:154357527-154357539
31 FLNA NM_001110556.2(FLNA):c.5988_5989del (p.Cys1997fs) Deletion Pathogenic 405447 rs1060500718 GRCh37: X:153581697-153581698
GRCh38: X:154353329-154353330
32 FLNA NM_001110556.2(FLNA):c.760G>A (p.Glu254Lys) SNV Pathogenic 11756 rs28935470 GRCh37: X:153595873-153595873
GRCh38: X:154367505-154367505
33 FLNA NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp) SNV Pathogenic 11772 rs137853317 GRCh37: X:153596246-153596246
GRCh38: X:154367878-154367878
34 FLNA NM_001110556.2(FLNA):c.5686+1G>C SNV Likely pathogenic 533566 rs1557176315 GRCh37: X:153582282-153582282
GRCh38: X:154353914-154353914
35 FLNA NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp) SNV Likely pathogenic 11772 rs137853317 GRCh37: X:153596246-153596246
GRCh38: X:154367878-154367878
36 FLNA NM_001110556.2(FLNA):c.2827-2A>C SNV Likely pathogenic 859086 GRCh37: X:153590157-153590157
GRCh38: X:154361789-154361789
37 LOC107988032 , FLNA NM_001110556.2(FLNA):c.7768_7770CTG[1] (p.Leu2591del) Microsatellite Likely pathogenic 854776 GRCh37: X:153577388-153577390
GRCh38: X:154349020-154349022
38 FLNA NM_001110556.2(FLNA):c.1065+1G>T SNV Likely pathogenic 841425 GRCh37: X:153594929-153594929
GRCh38: X:154366561-154366561
39 FLNA NM_001110556.2(FLNA):c.4142+1G>A SNV Likely pathogenic 662049 rs1603360906 GRCh37: X:153587851-153587851
GRCh38: X:154359483-154359483
40 FLNA NM_001110556.2(FLNA):c.4143-1G>T SNV Likely pathogenic 464989 rs1557177485 GRCh37: X:153587775-153587775
GRCh38: X:154359407-154359407
41 FLNA NM_001110556.2(FLNA):c.4596_4598+5del Deletion Likely pathogenic 464993 rs1557177279 GRCh37: X:153586808-153586815
GRCh38: X:154358440-154358447
42 FLNA NM_001110556.2(FLNA):c.1850C>T (p.Ser617Leu) SNV Uncertain significance 190185 rs782193139 GRCh37: X:153593066-153593066
GRCh38: X:154364698-154364698
43 FLNA NM_001110556.2(FLNA):c.1438C>T (p.Pro480Ser) SNV Uncertain significance 565416 rs782682232 GRCh37: X:153593846-153593846
GRCh38: X:154365478-154365478
44 FLNA NM_001110556.2(FLNA):c.3647C>T (p.Thr1216Met) SNV Uncertain significance 565860 rs781861717 GRCh37: X:153588516-153588516
GRCh38: X:154360148-154360148
45 FLNA NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln) SNV Uncertain significance 435203 rs781984274 GRCh37: X:153580593-153580593
GRCh38: X:154352225-154352225
46 FLNA NM_001110556.2(FLNA):c.3940G>A (p.Asp1314Asn) SNV Uncertain significance 566013 rs1557177584 GRCh37: X:153588139-153588139
GRCh38: X:154359771-154359771
47 FLNA NM_001110556.2(FLNA):c.7388C>T (p.Ser2463Leu) SNV Uncertain significance 566993 rs1460574102 GRCh37: X:153578181-153578181
GRCh38: X:154349813-154349813
48 FLNA NM_001110556.2(FLNA):c.5033C>T (p.Ala1678Val) SNV Uncertain significance 567142 rs1382817700 GRCh37: X:153583377-153583377
GRCh38: X:154355009-154355009
49 FLNA NM_001110556.2(FLNA):c.77C>T (p.Ala26Val) SNV Uncertain significance 567888 rs782637786 GRCh37: X:153599537-153599537
GRCh38: X:154371169-154371169
50 FLNA NM_001110556.2(FLNA):c.3708C>T (p.Gly1236=) SNV Uncertain significance 288752 rs200363918 GRCh37: X:153588455-153588455
GRCh38: X:154360087-154360087

Expression for Blood Group, I System

Search GEO for disease gene expression data for Blood Group, I System.

Pathways for Blood Group, I System

GO Terms for Blood Group, I System

Sources for Blood Group, I System

3 CDC
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17 EFO
18 ExPASy
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57 OMIM® (Updated 20-May-2021)
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