ANFH1
MCID: AVS006
MIFTS: 43

Avascular Necrosis of Femoral Head, Primary, 1 (ANFH1)

Categories: Bone diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Avascular Necrosis of Femoral Head, Primary, 1

MalaCards integrated aliases for Avascular Necrosis of Femoral Head, Primary, 1:

Name: Avascular Necrosis of Femoral Head, Primary, 1 58 76 39
Avascular Necrosis of the Femoral Head 58 39 13
Avascular Necrosis of Femoral Head 76 38
Ischemic Necrosis of Femoral Head 58 76
Osteonecrosis of Femoral Head 58 76
Femur Head Necrosis 45 74
Anfh1 58 76
Femoral Head, Avascular Necrosis of; Anfh 58
Femoral Head, Avascular Necrosis of 58
Femoral Head, Aseptic Necrosis of 58
Necrosis, Avascular, Femoral Head 41
Aseptic Necrosis of Femoral Head 76
Avascular Necrosis of Femur Head 74
Anfh 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
patients present with groin pain
onset of symptoms in second to fifth decades of life


HPO:

33
avascular necrosis of femoral head, primary, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 608805
KEGG 38 H01529
MeSH 45 D005271

Summaries for Avascular Necrosis of Femoral Head, Primary, 1

OMIM : 58 Avascular necrosis of the femoral head (ANFH) is a debilitating disease that usually leads to destruction of the hip joint in the third to fifth decade of life. The disorder is characterized by progressive pain in the groin, mechanical failure of the subchondral bone, and degeneration of the hip joint. Nearly one-half of patients require hip replacement before 40 years of age. ANFH represents a specific form of the broader disease category of osteonecrosis (summary by Mont and Hungerford, 1995). (608805)

MalaCards based summary : Avascular Necrosis of Femoral Head, Primary, 1, also known as avascular necrosis of the femoral head, is related to avascular necrosis of femoral head, primary, 2 and familial avascular necrosis of the femoral head. An important gene associated with Avascular Necrosis of Femoral Head, Primary, 1 is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are HIF-1 signaling pathway and VEGF signaling pathway. The drugs Anesthetics and Zoledronic Acid have been mentioned in the context of this disorder. Affiliated tissues include Adipose and Adipose, and related phenotypes are generalized osteoporosis and avascular necrosis of the capital femoral epiphysis

UniProtKB/Swiss-Prot : 76 Avascular necrosis of femoral head, primary, 1: A disease characterized by mechanical failure of the subchondral bone, and degeneration of the hip joint. It usually leads to destruction of the hip joint in the third to fifth decade of life. The clinical manifestations, such as pain on exertion, a limping gait, and a discrepancy in leg length, cause considerable disability. ANFH1 inheritance is autosomal dominant.

Related Diseases for Avascular Necrosis of Femoral Head, Primary, 1

Diseases in the Familial Avascular Necrosis of the Femoral Head family:

Avascular Necrosis of Femoral Head, Primary, 1 Avascular Necrosis of Femoral Head, Primary, 2

Diseases related to Avascular Necrosis of Femoral Head, Primary, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 avascular necrosis of femoral head, primary, 2 12.1
2 familial avascular necrosis of the femoral head 11.6
3 sickle cell disease 10.7
4 traumatic avascular necrosis 10.6
5 leukemia 10.4
6 legg-calve-perthes disease 10.4
7 arthritis 10.4
8 idiopathic avascular necrosis 10.4
9 gout 10.3
10 frozen shoulder 10.3
11 bursitis 10.3
12 slipped capital femoral epiphysis 10.3
13 epiphysiolysis of the hip 10.3
14 multiple sclerosis 10.2
15 prostate cancer 10.2
16 rheumatoid arthritis 10.2
17 prostate cancer, hereditary, 8 10.2
18 prostate cancer, hereditary, 6 10.2
19 leukemia, acute lymphoblastic 10.2
20 lymphoma 10.2
21 lymphocytic leukemia 10.2
22 chondrocalcinosis 10.2
23 conn's syndrome 10.2
24 systemic lupus erythematosus 10.1
25 lupus erythematosus 10.1
26 hypoxia 10.1
27 osteonecrosis 10.1
28 severe acute respiratory syndrome 10.1
29 spondyloarthropathy 1 10.1
30 metachondromatosis 10.1
31 pityriasis rubra pilaris 10.1
32 scleroderma, familial progressive 10.1
33 trichorhinophalangeal syndrome, type i 10.1
34 familial mediterranean fever 10.1
35 tropical calcific pancreatitis 10.1
36 leukemia, chronic myeloid 10.1
37 kawasaki disease 10.1
38 graft-versus-host disease 10.1
39 acute leukemia 10.1
40 cerebral palsy 10.1
41 male infertility 10.1
42 spinal stenosis 10.1
43 fibrous dysplasia 10.1
44 osteomalacia 10.1
45 brucellosis 10.1
46 sarcoma 10.1
47 pituitary apoplexy 10.1
48 renal osteodystrophy 10.1
49 antiphospholipid syndrome 10.1
50 ischemia 10.1

Graphical network of the top 20 diseases related to Avascular Necrosis of Femoral Head, Primary, 1:



Diseases related to Avascular Necrosis of Femoral Head, Primary, 1

Symptoms & Phenotypes for Avascular Necrosis of Femoral Head, Primary, 1

Human phenotypes related to Avascular Necrosis of Femoral Head, Primary, 1:

33
# Description HPO Frequency HPO Source Accession
1 generalized osteoporosis 33 occasional (7.5%) HP:0040160
2 avascular necrosis of the capital femoral epiphysis 33 HP:0005743

Symptoms via clinical synopsis from OMIM:

58
Skeletal Pelvis:
narrowing of joint space
degeneration of hip joint

Skeletal Spine:
mild scoliosis (in some patients)

Skeletal:
generalized osteoporosis (in some patients)

Skeletal Limbs:
avascular necrosis of the femoral head
cystic changes of femoral head
sclerosis of femoral head
necrosis of bone and marrow tissue on histopathology

Clinical features from OMIM:

608805

Drugs & Therapeutics for Avascular Necrosis of Femoral Head, Primary, 1

Drugs for Avascular Necrosis of Femoral Head, Primary, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anesthetics Phase 4,Phase 2
2
Zoledronic Acid Approved Phase 3 118072-93-8 68740
3
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
4
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
5
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
6 Calcium, Dietary Phase 3
7 Diphosphonates Phase 3,Not Applicable
8 Calciferol Phase 3
9 Bone Density Conservation Agents Phase 3,Not Applicable
10 Ibandronic Acid Phase 3
11 Cyclooxygenase Inhibitors Phase 3
12 Analgesics, Non-Narcotic Phase 3
13 Anti-Inflammatory Agents, Non-Steroidal Phase 3
14 Anti-Inflammatory Agents Phase 3
15 Peripheral Nervous System Agents Phase 3
16 Antipyretics Phase 3
17 Antirheumatic Agents Phase 3
18 Fibrinolytic Agents Phase 3
19 Analgesics Phase 3
20 Platelet Aggregation Inhibitors Phase 3
21
Tranexamic Acid Approved Not Applicable 1197-18-8 5526
22
Pamidronate Approved Not Applicable 40391-99-9 4674
23 Antifibrinolytic Agents Not Applicable
24 Pharmaceutical Solutions Not Applicable
25 Hemostatics Not Applicable
26 Coagulants Not Applicable
27 Calamus

Interventional clinical trials:

(show all 31)
# Name Status NCT ID Phase Drugs
1 Ultra-Short Anatomic and Conventional Cementless Stems Cementless Stems in Patients Younger Than Fifty-Five Years Old Completed NCT02338596 Phase 4
2 Ceramic-on-Ceramic Versus Ceramic-on-HXLPE THA Completed NCT03639532 Phase 4
3 Implantation of Bone Marrow Cells to Treat Avascular Necrosis of Femoral Head (ANFH) Unknown status NCT01613612 Phase 2, Phase 3
4 Efficacy of Zoledronic Acid in Preventing Collapse of the Osteonecrotic Femoral Head Completed NCT00939900 Phase 3 zoledronic acid (aclasta)
5 Study Into the Effect of Ibandronate for the Treatment of Bone Marrow Edema in Relation to Spontaneous or Non-traumatic Osteonecrosis of the Knee: A Randomized Double-blind, Placebo-controlled Trial Completed NCT00532220 Phase 3 Ibandronate IV;Placebo
6 Aspirin in the Prevention of Collapse in Osteonecrosis of the Hip Recruiting NCT03405974 Phase 3 Aspirin;Placebo
7 Randomized Clinical Trial for the Treatment of Osteonecrosis of the Femoral Head Active, not recruiting NCT01892514 Phase 3
8 The Study of Early Stage Osteonecrosis of Femoral Head With Human Umbilical Cord Mesenchymal Stem Cells Unknown status NCT03180463 Phase 1, Phase 2 Allogeneic umbilical cord mesenchymal stem cells (SCLnow 19#)
9 Autologous Osteoblastic Cells Implantation to Early Stage Osteonecrosis of the Femoral Head Completed NCT02890537 Phase 2 Core decompression/PREOB® implantation;Core decompression/BMC implantation
10 Evaluation of Mesenchymal Stem Cells to Treat Avascular Necrosis of the Hip Active, not recruiting NCT02065167 Phase 2
11 Mesenchymal Stem Cells in Osteonecrosis of the Femoral Head Active, not recruiting NCT01605383 Phase 1, Phase 2
12 Evaluate the Effect of Bone Marrow Derived Cd133+ Cells in Patient With Osteonecrosis of Femoral Head Completed NCT01198080 Phase 1
13 Porous Tantalum Rods Improve the Hip Joint Function of Patients With Avascular Necrosis of the Femoral Head Unknown status NCT02877472 Not Applicable
14 Molecular Genetic Study of Avascular Necrosis of the Femoral Head Unknown status NCT00260897
15 Feasibility of Implantation of Cemented Femoral Stem for Osteoporotic Femoral Neck Fracture in Elderly Patients Unknown status NCT02901938 Not Applicable
16 Proton Magnetic Resonance Spectroscopy (1H MRS) in Evaluating the Bone Marrow, Muscle and Adipose Tissue on Normal and Human Immunodeficiency Virus Infected Subjects Unknown status NCT00172315
17 Autologous Adipose Tissue Derived Mesenchymal Stem Cells Transplantation in Patient With Avascular Necrosis of the Femoral Head Completed NCT01643655 Not Applicable
18 Transcription Factor Runx2 in Necrotic Femoral Head Tissue Completed NCT02735538
19 Rotational Thromboelastography Study in Tranexamic Acid and Colloid Infusion Completed NCT02146456 Not Applicable Tranexamic Acid
20 Cerebral Palsy Hip Health Related Quality of Life Completed NCT01773161
21 Selective Ultrasound Screening for DDH 1991-2006 Completed NCT01866527
22 Ultrasound Screening for Developmental Dysplasia of the Hip in Newborns Completed NCT01818934 Not Applicable
23 Autologous Bone Marrow Concentration for Avascular Necrosis of Femoral Head Recruiting NCT03787329
24 Tritanium® Study in Japan Recruiting NCT02552069
25 The Medacta International SMS Post-Marketing Surveillance Study Recruiting NCT02748408
26 Actis Total Hip System 2 Year Follow-up Recruiting NCT02783274 Not Applicable
27 Hip Fracture in Individuals Under 60 Years of Age Active, not recruiting NCT03848195
28 Biologically Assisted Core Decompression of the Femoral Head Using the PerFuse Instrument and BioCUE Enrolling by invitation NCT02662881
29 Is Periacetabular Osteotomy Superior to Progressive Resistance Training? Not yet recruiting NCT03941171 Not Applicable
30 The Use of Bisphosphonates in the Treatment of Avascular Necrosis of the Femoral Head Terminated NCT02007915 Not Applicable Pamidronate Disodium
31 Outcome After Avascular Necrosis of the Femoral Head in Young Patients Withdrawn NCT03753282

Search NIH Clinical Center for Avascular Necrosis of Femoral Head, Primary, 1

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Stem-cell-based therapeutic approaches for Avascular Necrosis of Femoral Head, Primary, 1:
RNL-Astrostem, adipose-derived mesenchymal stem cells for avascular necrosis of the femoral head
Embryonic/Adult Cultured Cells Related to Avascular Necrosis of Femoral Head, Primary, 1:
Adipose-derived mesenchymal stem cells PMIDs: 21303266 24341080

Cochrane evidence based reviews: femur head necrosis

Genetic Tests for Avascular Necrosis of Femoral Head, Primary, 1

Anatomical Context for Avascular Necrosis of Femoral Head, Primary, 1

MalaCards organs/tissues related to Avascular Necrosis of Femoral Head, Primary, 1:

42
Bone, Bone Marrow, Myeloid, Prostate, Endothelial, Heart, Lymph Node
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Avascular Necrosis of Femoral Head, Primary, 1:
# Tissue Anatomical CompartmentCell Relevance
1 Adipose Subcutaneous White Adipose Mesenchymal Stem Cells Potential therapeutic candidate
2 Adipose Subcutaneous White Adipose Stromal Cells Potential therapeutic candidate

Publications for Avascular Necrosis of Femoral Head, Primary, 1

Articles related to Avascular Necrosis of Femoral Head, Primary, 1:

(show top 50) (show all 425)
# Title Authors Year
1
Spontaneous Healing of Avascular Necrosis of the Femoral Head in Sickle Cell Disease. ( 30838665 )
2019
2
Risk of avascular necrosis of the femoral head in children with sickle cell disease on hydroxyurea: MRI evaluation. ( 30345708 )
2019
3
Factors associated with the development of avascular necrosis of the femoral head after non-displaced femoral neck fracture treated with internal fixation. ( 30213472 )
2019
4
Effects of transplantation of FGF-2-transfected MSCs and XACB on TNF-α expression with avascular necrosis of the femoral head in rabbits. ( 30377228 )
2019
5
Real-World Database Examining the Association Between Avascular Necrosis of the Femoral Head and Diabetes in Taiwan. ( 30487230 )
2019
6
Downregulating STAT1/caspase-3 signaling with fludarabine to alleviate progression in a rat model of steroid-induced avascular necrosis of the femoral head. ( 30506661 )
2019
7
Effect of psoralen on the expression of PPARγ, osteocalcin, and trabecular bone area in rabbits with steroid-induced avascular necrosis of the femoral head. ( 30621711 )
2019
8
Microarray analysis of long-noncoding RNAs and mRNA expression profiles in human steroid-induced avascular necrosis of the femoral head. ( 31081170 )
2019
9
A Retrospective Study to Compare the Efficacy and Postoperative Outcome of Total Hip Arthroplasty with Internal Screw Fixation in Patients with Avascular Necrosis of the Femoral Head. ( 31097682 )
2019
10
Effect of surgical treatment on the quality of life in patients with non-traumatic avascular necrosis of the femoral head. ( 30377614 )
2018
11
The application of PRP combined with TCP in repairing avascular necrosis of the femoral head after femoral neck fracture in rabbit. ( 29509236 )
2018
12
A metabolomic study on early detection of steroid-induced avascular necrosis of the femoral head. ( 29487708 )
2018
13
Femoral head wedge resection for the treatment of avascular necrosis of the femoral head after pediatric femoral neck fracture: a case report. ( 29570157 )
2018
14
Effects of platelet-rich plasma on angiogenesis and osteogenesis-associated factors in rabbits with avascular necrosis of the femoral head. ( 29687874 )
2018
15
COL2A1 mutation (c.3508G>A) leads to avascular necrosis of the femoral head in a Chinese family: A case report. ( 29750297 )
2018
16
Clinical and Radiographic Alterations in Bilateral Avascular Necrosis of the Femoral Head Following Laser Acupuncture: A Case Report. ( 30026902 )
2018
17
Bisphosphonate Combination Therapy in the Management of Postchemotherapy Avascular Necrosis of the Femoral Head in Adolescents and Young Adults: A Retrospective Study From India. ( 30241233 )
2018
18
Correction to: Regenerative therapies increase survivorship of avascular necrosis of the femoral head: a systematic review and meta-analysis. ( 30294752 )
2018
19
Beneficial contribution of a safflower (Carthamus tinctorius L.) polysaccharide on steroid-induced avascular necrosis of the femoral head in rats. ( 30419325 )
2018
20
Autologous stem cell implantation with core decompression for avascular necrosis of the femoral head. ( 30449983 )
2018
21
Avascular necrosis of the femoral head: An exceptional complication of cushing's disease. ( 30588938 )
2018
22
Bilateral avascular necrosis of the femoral head following asynchronous postictal femoral neck fractures: a case report and review of the literature. ( 28368928 )
2018
23
Low rate of clinically important avascular necrosis of the femoral head after Ludloff's procedure. ( 29027184 )
2018
24
MicroRNA‑206 contributes to the progression of steroid‑induced avascular necrosis of the femoral head by inducing osteoblast apoptosis by suppressing programmed cell death 4. ( 29115490 )
2018
25
Naringin protects against steroid‑induced avascular necrosis of the femoral head through upregulation of PPARγ and activation of the Notch signaling pathway. ( 29257271 )
2018
26
Salidroside inhibits steroid-induced avascular necrosis of the femoral head via the PI3K/Akt signaling pathway: In vitro and in vivo studies. ( 29286130 )
2018
27
Bone mesenchymal stem cells co-expressing VEGF and BMP-6 genes to combat avascular necrosis of the femoral head. ( 29399103 )
2018
28
Regenerative therapies increase survivorship of avascular necrosis of the femoral head: a systematic review and meta-analysis. ( 29411077 )
2018
29
Bilateral Avascular Necrosis of the Femoral Head in Fibrous Dysplasia. ( 30283878 )
2017
30
Comparison of Outcomes of Total Hip Arthroplasty between Patients with Ankylosing Spondylitis and Avascular Necrosis of the Femoral Head. ( 28861192 )
2017
31
Management of non-traumatic avascular necrosis of the femoral head-a comparative analysis of the outcome of multiple small diameter drilling and core decompression with fibular grafting. ( 27757848 )
2017
32
Avascular Necrosis of the Femoral Head. ( 28107303 )
2017
33
Avascular Necrosis of the Femoral Head. ( 28107304 )
2017
34
The impact of high total cholesterol and high low-density lipoprotein on avascular necrosis of the femoral head in low-energy femoral neck fractures. ( 28212664 )
2017
35
Risk Stratification for Avascular Necrosis of the Femoral Head After Internal Fixation of Femoral Neck Fractures by Post-Operative Bone SPECT/CT. ( 28250858 )
2017
36
Role of mesenchymal stem cells on differentiation in steroid-induced avascular necrosis of the femoral head. ( 28352349 )
2017
37
Core decompression and biotechnologies in the treatment of avascular necrosis of the femoral head. ( 28461967 )
2017
38
Correction: Effectiveness of Lower Energy Density Extracorporeal Shock Wave Therapy in the Early Stage of Avascular Necrosis of the Femoral Head. ( 28503471 )
2017
39
Long-term Outcome of Multiple Small-diameter Drilling Decompression Combined with Hip Arthroscopy versus Drilling Alone for Early Avascular Necrosis of the Femoral Head. ( 28584206 )
2017
40
Fludarabine inhibits STAT1-mediated up-regulation of caspase-3 expression in dexamethasone-induced osteoblasts apoptosis and slows the progression of steroid-induced avascular necrosis of the femoral head in rats. ( 28601953 )
2017
41
Different Recipient Vessels for Free Microsurgical Fibula Flaps in the Treatment of Avascular Necrosis of the Femoral Head: A Systematic Review and Meta-analysis. ( 28671884 )
2017
42
Overactivated autophagy contributes to steroid-induced avascular necrosis of the femoral head. ( 28672940 )
2017
43
Avascular necrosis of the femoral head in patients treated for leukaemia. Assessment of the need for a diagnostic protocol. ( 28728961 )
2017
44
The role of electrical stimulation in the management of avascular necrosis of the femoral head in adults: a systematic review. ( 28754159 )
2017
45
The correlation between Salter's criteria for avascular necrosis of the femoral head and Kalamchi's prognostic classification following the treatment of developmental dysplasia of the hip. ( 28768791 )
2017
46
Autologous Stem Cells Combined Core Decompression for Treatment of Avascular Necrosis of the Femoral Head: A Systematic Meta-Analysis. ( 28840126 )
2017
47
MiR-145 silencing promotes steroid-induced avascular necrosis of the femoral head repair via upregulating VEGF. ( 28975994 )
2017
48
Cortisol inhibits mTOR signaling in avascular necrosis of the femoral head. ( 29047405 )
2017
49
Modifications to advanced Core decompression for treatment of Avascular necrosis of the femoral head. ( 29162080 )
2017
50
Avascular Necrosis of the Femoral Head. ( 29286832 )
2017

Variations for Avascular Necrosis of Femoral Head, Primary, 1

UniProtKB/Swiss-Prot genetic disease variations for Avascular Necrosis of Femoral Head, Primary, 1:

76
# Symbol AA change Variation ID SNP ID
1 COL2A1 p.Gly717Ser VAR_023929 rs387906558
2 COL2A1 p.Gly1170Ser VAR_023933 rs121912891
3 COL2A1 p.Thr1383Met VAR_075730 rs138498898

ClinVar genetic disease variations for Avascular Necrosis of Femoral Head, Primary, 1:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 COL2A1 NM_001844.4(COL2A1): c.2965C> T (p.Arg989Cys) single nucleotide variant Pathogenic rs121912874 GRCh37 Chromosome 12, 48372112: 48372112
2 COL2A1 NM_001844.4(COL2A1): c.2965C> T (p.Arg989Cys) single nucleotide variant Pathogenic rs121912874 GRCh38 Chromosome 12, 47978329: 47978329
3 COL2A1 NM_001844.4(COL2A1): c.3508G> A (p.Gly1170Ser) single nucleotide variant Pathogenic rs121912891 GRCh37 Chromosome 12, 48369835: 48369835
4 COL2A1 NM_001844.4(COL2A1): c.3508G> A (p.Gly1170Ser) single nucleotide variant Pathogenic rs121912891 GRCh38 Chromosome 12, 47976052: 47976052
5 COL2A1 NM_001844.4(COL2A1): c.2149G> A (p.Gly717Ser) single nucleotide variant Pathogenic rs387906558 GRCh37 Chromosome 12, 48376675: 48376675
6 COL2A1 NM_001844.4(COL2A1): c.2149G> A (p.Gly717Ser) single nucleotide variant Pathogenic rs387906558 GRCh38 Chromosome 12, 47982892: 47982892
7 COL2A1 NM_001844.4(COL2A1): c.1957C> T (p.Arg653Ter) single nucleotide variant Pathogenic rs121912893 GRCh37 Chromosome 12, 48377504: 48377504
8 COL2A1 NM_001844.4(COL2A1): c.1957C> T (p.Arg653Ter) single nucleotide variant Pathogenic rs121912893 GRCh38 Chromosome 12, 47983721: 47983721
9 COL2A1 NM_001844.4(COL2A1): c.4148C> T (p.Thr1383Met) single nucleotide variant Conflicting interpretations of pathogenicity rs138498898 GRCh37 Chromosome 12, 48368041: 48368041
10 COL2A1 NM_001844.4(COL2A1): c.4148C> T (p.Thr1383Met) single nucleotide variant Conflicting interpretations of pathogenicity rs138498898 GRCh38 Chromosome 12, 47974258: 47974258
11 COL2A1 NM_001844.4(COL2A1): c.258C> A (p.Cys86Ter) single nucleotide variant Pathogenic rs794727261 GRCh37 Chromosome 12, 48393736: 48393736
12 COL2A1 NM_001844.4(COL2A1): c.258C> A (p.Cys86Ter) single nucleotide variant Pathogenic rs794727261 GRCh38 Chromosome 12, 47999953: 47999953
13 COL2A1 NM_001844.4(COL2A1): c.803C> T (p.Pro268Leu) single nucleotide variant Uncertain significance rs142770543 GRCh37 Chromosome 12, 48388220: 48388220
14 COL2A1 NM_001844.4(COL2A1): c.803C> T (p.Pro268Leu) single nucleotide variant Uncertain significance rs142770543 GRCh38 Chromosome 12, 47994437: 47994437
15 COL2A1 NM_001844.4(COL2A1): c.2618G> T (p.Gly873Val) single nucleotide variant Uncertain significance rs886042009 GRCh37 Chromosome 12, 48374344: 48374344
16 COL2A1 NM_001844.4(COL2A1): c.2618G> T (p.Gly873Val) single nucleotide variant Uncertain significance rs886042009 GRCh38 Chromosome 12, 47980561: 47980561

Expression for Avascular Necrosis of Femoral Head, Primary, 1

Search GEO for disease gene expression data for Avascular Necrosis of Femoral Head, Primary, 1.

Pathways for Avascular Necrosis of Femoral Head, Primary, 1

Pathways related to Avascular Necrosis of Femoral Head, Primary, 1 according to KEGG:

38
# Name Kegg Source Accession
1 HIF-1 signaling pathway hsa04066
2 VEGF signaling pathway hsa04370

GO Terms for Avascular Necrosis of Femoral Head, Primary, 1

Sources for Avascular Necrosis of Femoral Head, Primary, 1

3 CDC
7 CNVD
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10 dbSNP
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45 MeSH
46 MESH via Orphanet
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70 SNOMED-CT via HPO
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