FANCE
MCID: FNC043
MIFTS: 62

Fanconi Anemia, Complementation Group E (FANCE)

Categories: Blood diseases, Bone diseases, Cancer diseases, Fetal diseases, Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases, Skin diseases

Aliases & Classifications for Fanconi Anemia, Complementation Group E

MalaCards integrated aliases for Fanconi Anemia, Complementation Group E:

Name: Fanconi Anemia, Complementation Group E 57 29 13 6 39 70
Fanconi Anemia Complementation Group E 12 72 15
Fance 57 12 72
Face 57 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
fanconi anemia, complementation group e:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Fanconi Anemia, Complementation Group E

UniProtKB/Swiss-Prot : 72 Fanconi anemia complementation group E: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.

MalaCards based summary : Fanconi Anemia, Complementation Group E, also known as fanconi anemia complementation group e, is related to fanconi anemia, complementation group u and seckel syndrome, and has symptoms including anemic pallor An important gene associated with Fanconi Anemia, Complementation Group E is FANCE (FA Complementation Group E), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Chks in Checkpoint Regulation. The drugs Ciclopirox and Etomidate have been mentioned in the context of this disorder. Affiliated tissues include skin, bone marrow and eye, and related phenotypes are intellectual disability and hearing impairment

Disease Ontology : 12 A Fanconi anemia that has material basis in homozygous mutation in the FANCE gene on chromosome 6p22-p21.

OMIM® : 57 Fanconi anemia (FA) is characterized by bone marrow failure, developmental abnormalities, cancer predisposition, and cellular hypersensitivity to DNA cross-linking agents such as mitomycin C (summary by de Winter et al., 2000). For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see 227650. (600901) (Updated 05-Apr-2021)

Wikipedia : 73 Fanconi anemia, complementation group E protein is a protein that in humans is encoded by the FANCE... more...

Related Diseases for Fanconi Anemia, Complementation Group E

Diseases in the Fanconi Anemia, Complementation Group C family:

Fanconi Anemia, Complementation Group D2 Fanconi Anemia, Complementation Group a
Fanconi Anemia, Complementation Group B Fanconi Anemia, Complementation Group E
Fanconi Anemia, Complementation Group F Fanconi Anemia, Complementation Group D1
Fanconi Anemia, Complementation Group I Fanconi Anemia, Complementation Group J
Fanconi Anemia, Complementation Group N Fanconi Anemia, Complementation Group O
Fanconi Anemia, Complementation Group P Fanconi Anemia, Complementation Group G
Fanconi Anemia, Complementation Group L Fanconi Anemia, Complementation Group Q
Fanconi Anemia, Complementation Group T Fanconi Anemia, Complementation Group V
Fanconi Anemia, Complementation Group R Fanconi Anemia, Complementation Group U
Fanconi Anemia, Complementation Group W Fanconi Anemia, Complementation Group S

Diseases related to Fanconi Anemia, Complementation Group E via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 2730)
# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group u 31.1 FANCE FANCD2 FANCA
2 seckel syndrome 30.9 FANCE FANCD2 FANCA
3 fanconi anemia, complementation group v 30.9 FANCG FANCE FANCD2 FANCA
4 deficiency anemia 30.7 FANCG FANCF FANCE FANCD2 FANCC FANCA
5 xeroderma pigmentosum, variant type 30.7 FANCG FANCD2 FANCC FANCA
6 esophageal atresia 30.6 FANCG FANCF FANCE FANCD2 FANCC FANCA
7 squamous cell carcinoma, head and neck 30.6 FANCG FANCF FANCE FANCD2 FANCC FANCA
8 fanconi anemia, complementation group d2 30.6 FANCG FANCF FANCE FANCD2 FANCC FANCA
9 fanconi anemia, complementation group r 30.5 FANCG FANCF FANCE FANCD2 FANCC FANCA
10 fanconi anemia, complementation group t 30.5 FANCG FANCF FANCE FANCD2 FANCC FANCA
11 fanconi anemia, complementation group o 30.4 FANCG FANCF FANCE FANCD2 FANCC FANCA
12 fanconi anemia, complementation group b 30.4 FANCG FANCF FANCE FANCD2 FANCC FANCA
13 fanconi anemia, complementation group q 30.4 FANCG FANCF FANCE FANCD2 FANCC FANCA
14 aplastic anemia 30.4 FANCG FANCF FANCE FANCD2 FANCC FANCA
15 fanconi anemia, complementation group p 30.4 FANCG FANCF FANCE FANCD2 FANCC FANCA
16 fanconi anemia, complementation group n 30.4 FANCG FANCF FANCE FANCD2 FANCC FANCA
17 fanconi anemia, complementation group f 30.4 FANCG FANCF FANCE FANCD2 FANCC FANCA
18 fanconi anemia, complementation group d1 30.4 FANCG FANCF FANCE FANCD2 FANCC FANCA
19 fanconi anemia, complementation group j 30.4 FANCG FANCF FANCE FANCD2 FANCC FANCA
20 fanconi anemia, complementation group c 29.9 FANCF FANCD2 FANCC FANCA
21 fanconi anemia, complementation group i 29.9 FANCF FANCD2 FANCA
22 fanconi anemia, complementation group a 29.6 FANCG FANCF FANCE FANCD2 FANCC FANCA
23 arthrogryposis, distal, type 2a 11.5
24 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth 11.4
25 congenital contractures of the limbs and face, hypotonia, and developmental delay 11.4
26 frontonasal dysplasia 1 11.3
27 three m syndrome 1 11.3
28 fountain syndrome 11.3
29 illum syndrome 11.3
30 robinow syndrome 11.2
31 digeorge syndrome 11.2
32 sonoda syndrome 11.2
33 prosopagnosia 11.2
34 robinow syndrome, autosomal dominant 1 11.2
35 prosopagnosia, hereditary 11.2
36 conotruncal heart malformations 11.2
37 facial infiltrating lipomatosis 11.2
38 whistling face syndrome, recessive form 11.2
39 floating-harbor syndrome 11.1
40 trigeminal neuralgia 11.1
41 langerhans cell histiocytosis 11.1
42 fryns syndrome 11.1
43 cold-induced sweating syndrome 11.1
44 crisponi/cold-induced sweating syndrome 1 11.1
45 alpha thalassemia-x-linked intellectual disability syndrome 11.1
46 phace association 11.1
47 rosacea 11.1
48 axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities 11.1
49 lethal midline granuloma 11.0
50 cavernous hemangioma of face 11.0

Graphical network of the top 20 diseases related to Fanconi Anemia, Complementation Group E:



Diseases related to Fanconi Anemia, Complementation Group E

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group E

Human phenotypes related to Fanconi Anemia, Complementation Group E:

31 (show all 34)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 hearing impairment 31 HP:0000365
3 global developmental delay 31 HP:0001263
4 microcephaly 31 HP:0000252
5 short stature 31 HP:0004322
6 anemia 31 HP:0001903
7 strabismus 31 HP:0000486
8 cryptorchidism 31 HP:0000028
9 horseshoe kidney 31 HP:0000085
10 ectopic kidney 31 HP:0000086
11 thrombocytopenia 31 HP:0001873
12 microphthalmia 31 HP:0000568
13 leukemia 31 HP:0001909
14 short thumb 31 HP:0009778
15 neutropenia 31 HP:0001875
16 bruising susceptibility 31 HP:0000978
17 abnormality of skin pigmentation 31 HP:0001000
18 complete duplication of thumb phalanx 31 HP:0009943
19 hypergonadotropic hypogonadism 31 HP:0000815
20 psychomotor retardation 31 HP:0025356
21 abnormality of cardiovascular system morphology 31 HP:0030680
22 abnormal heart morphology 31 HP:0001627
23 cafe-au-lait spot 31 HP:0000957
24 absent radius 31 HP:0003974
25 renal agenesis 31 HP:0000104
26 small for gestational age 31 HP:0001518
27 pancytopenia 31 HP:0001876
28 absent thumb 31 HP:0009777
29 duplicated collecting system 31 HP:0000081
30 reticulocytopenia 31 HP:0001896
31 anemic pallor 31 HP:0001017
32 deficient excision of uv-induced pyrimidine dimers in dna 31 HP:0003213
33 prolonged g2 phase of cell cycle 31 HP:0003214
34 chromosomal breakage induced by crosslinking agents 31 HP:0003221

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
microcephaly

Head And Neck Eyes:
strabismus
microphthalmia

Genitourinary Kidneys:
horseshoe kidney
duplicated collecting system
renal ectopia
absent kidney
kidney malformation
more
Neurologic Central Nervous System:
psychomotor retardation

Laboratory Abnormalities:
deficient excision of uv-induced pyrimidine dimers in dna
prolonged g2 phase of cell cycle
multiple chromosomal breaks. chromosomal breakage induced by diepoxybutane (deb), and mitomycin c

Cardiovascular Heart:
congenital heart defect

Growth Weight:
low birth weight

Skeletal Hands:
thumb hypoplasia
thumb deformity
thumb aplasia
duplicated thumb

Hematology:
anemia
thrombocytopenia
leukemia
neutropenia
pancytopenia
more
Genitourinary Internal Genitalia Male:
cryptorchidism

Endocrine Features:
hypergonadotropic hypogonadism

Skin Nails Hair Skin:
anemic pallor
hyperpigmentation
cafe-au-lait spots
bruisability
pigmentary changes

Head And Neck Ears:
deafness
ear anomaly

Skeletal Limbs:
radial aplasia

Growth Height:
small stature

Clinical features from OMIM®:

600901 (Updated 05-Apr-2021)

UMLS symptoms related to Fanconi Anemia, Complementation Group E:


anemic pallor

GenomeRNAi Phenotypes related to Fanconi Anemia, Complementation Group E according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.32 FANCA FANCD2
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.32 FANCA FANCD2
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.32 FANCA FANCC FANCD2 FANCE FANCF FANCG

MGI Mouse Phenotypes related to Fanconi Anemia, Complementation Group E:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.43 FANCA FANCC FANCD2 FANCE FANCF FANCG
2 reproductive system MP:0005389 9.1 FANCA FANCC FANCD2 FANCE FANCF FANCG

Drugs & Therapeutics for Fanconi Anemia, Complementation Group E

Drugs for Fanconi Anemia, Complementation Group E (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 566)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ciclopirox Approved, Investigational Phase 4 29342-05-0 2749
2
Etomidate Approved Phase 4 33125-97-2 36339 667484
3
Sirolimus Approved, Investigational Phase 4 53123-88-9 6436030 5284616
4
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
5
Hydrogen peroxide Approved, Vet_approved Phase 4 7722-84-1 784
6
Adapalene Approved Phase 4 106685-40-9 60164
7
Clindamycin Approved, Vet_approved Phase 4 18323-44-9 29029
8
Levobupivacaine Approved, Investigational Phase 4 27262-47-1 92253
9
Dapsone Approved, Investigational Phase 4 80-08-0 2955
10
Zinc oxide Approved Phase 4 1314-13-2
11
Azelaic acid Approved Phase 4 123-99-9 2266
12
Tetracaine Approved, Vet_approved Phase 4 94-24-6 5411
13
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
14
Budesonide Approved Phase 4 51333-22-3 63006 5281004
15
Isotretinoin Approved Phase 4 4759-48-2 5282379 5538
16
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
17
Titanium dioxide Approved Phase 4 13463-67-7
18
Oxybenzone Approved, Investigational Phase 4 131-57-7 4632
19
Avobenzone Approved, Investigational Phase 4 70356-09-1
20
Sage Approved Phase 4
21
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
22
Minoxidil Approved, Investigational Phase 4 38304-91-5 4201
23
Sodium citrate Approved, Investigational Phase 4 68-04-2
24
Polidocanol Approved Phase 4 9002-92-0
25
Kinetin Approved Phase 4 525-79-1 3830
26
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
27
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
28
Eflornithine Approved, Withdrawn Phase 4 70052-12-9 3009
29
Atracurium Approved, Experimental, Investigational Phase 4 64228-79-1 47319
30
Ketoconazole Approved, Investigational Phase 4 65277-42-1 47576
31
Esketamine Approved, Investigational Phase 4 33643-46-8
32
Cisplatin Approved Phase 4 15663-27-1 84093 441203 2767
33
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
34
Citalopram Approved Phase 4 59729-33-8 2771
35
Sertraline Approved Phase 4 79617-96-2 68617
36
Phentermine Approved, Illicit Phase 4 122-09-8 4771
37
Bromocriptine Approved, Investigational Phase 4 25614-03-3 31101
38
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
39
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
40
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
41
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
42
Ephedrine Approved Phase 4 299-42-3 9294
43
Pseudoephedrine Approved Phase 4 90-82-4 7028
44
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
45
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
46
Trifarotene Approved, Investigational Phase 4 895542-09-3
47
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
48
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
49
Salicylic acid Approved, Investigational, Vet_approved Phase 4 69-72-7 338
50
Racepinephrine Approved Phase 4 329-65-7 838

Interventional clinical trials:

(show top 50) (show all 2316)
# Name Status NCT ID Phase Drugs
1 Use of Botox Versus Conventional Treatment for Pain Decrease of Muscular Pain: a Randomized Controlled Trial Unknown status NCT03456154 Phase 4 Botox Injectable Product
2 The Efficacy of Combined Peels in Treatment of Melasma Using Modified Jessner's Solution With 20%Trichloroacetic Acid Versus 70%Glycolic Acid With 20% Trichloroacetic Acid : A Split-face Study Unknown status NCT03153852 Phase 4 Modified Jessner's solution;Glycolic acid;Trichloroacetic acid
3 Intense Pulsed Light as an Adjunctive to Bromonidine for the Treatment of Rosacea- a Prospective Study Unknown status NCT03053700 Phase 4 Bromonide 0.33% gel
4 Double Blind Randomized Study of 2% Miconazol Versus 4% Hydroquinone in the Treatment for Melasma. Unknown status NCT01661556 Phase 4 Miconazole;Hydroquinone
5 Efficacy of KAM2904 Face Cream and KAM3008 Body Lotion Treatment in Children With Atopic Dermatitis (AD) Unknown status NCT01781663 Phase 4
6 The Efficacy of Oral Tranexamic Acid and a 1927 nm Diode Laser in Patients With Melasma. A Prospective Randomized Split Face Study Unknown status NCT03686787 Phase 4 Tranexamic Acid
7 Phase 3 Study of Postpartum Oxygen Inhalation for the Treatment of Postpartum Haemorrhage Unknown status NCT01180192 Phase 4 oxygen
8 Clinical, Laboratorial and Quality of Life Trial to Evaluate the Efficacy and Safety of Low-dose Oral Isotretinoin for Seborrhea. Unknown status NCT01139749 Phase 4 oral isotretinoin;salicylic acid and ciclopirox olamine
9 The Impact of Botulinum Toxin Injection in the Frontalis on Brow Height and Morphology: A Randomized Trial Unknown status NCT03186001 Phase 4 Abobotulinum toxin A
10 A Pilot Study to Evaluate the Efficacy of Fixed Dose Combination Clindamycin Phosphate 1.2%/Tretinoin 0.025% Gel Alone Versus Fixed Dose Combination Clindamycin Phosphate 1.2%/Tretinoin 0.025% Gel Plus Benzoyl Peroxide 6% Foaming Cloths in the Treatment of Facial Acne Vulgaris Unknown status NCT01422785 Phase 4 clindamycin phosphate 1.2%/tretinoin 0.025% gel alone;clindamycin phosphate 1.2%/tretinoin 0.025% gel plus benzoyl peroxide 6% foaming cloths
11 Hyperventilation and ECT Seizure Duration: Effects on Cerebral Oxygen Saturation, and Therapeutic Outcome With Comparisons Between Etomidate and Ketamine in Patients With Major Depressive Disorder Unknown status NCT02924090 Phase 4 Etomidate;Ketamine
12 A Single-blind, Randomized, Comparative Split-face Study Evaluating the Tolerability of Clindamycin and Benzoyl Peroxide Gel to Benzoyl Peroxide/Adapalene Gel in the Treatment of Acne Vulgaris. Completed NCT00964223 Phase 4 Clindamycin and benzoyl peroxide gel (Duac® Topical Gel);benzoyl peroxide and adapalene gel (EPIDUO™ Gel)
13 Peritonsillar Infiltration With Levobupivacaine for Relief of Posttonsillectomy Pain: Does Concentration Have Any Effect? Completed NCT02322346 Phase 4 Group LL;Group HL
14 A Single Blind, Placebo Controlled Trial to Evaluate Effects of a Study Medication, a Nu Skin Lightening Product With and Without Iontophoresis vs Tretinoin Cream vs Vehicle Control for Facial Hyperpigmentation Completed NCT01149876 Phase 4 Tretinoin cream 0.05
15 Phase Iv Study On The Safety And Efficacy Of The Full Face Applications Of Variable Doses Of 125 To 250 Units Of A Commercial Botulinum Toxin Type A (Dysport®) Completed NCT01032954 Phase 4 Botulinum toxin
16 Study on the Effect of the Universal Decontamination With Daily Bathing With 4% Chlorhexidine Gluconate on the Incidence of Hospital Acquired Infections in Intensive Care Units Completed NCT03639363 Phase 4 4% chlorhexidine gluconate soap-like solution
17 A Prospective, Open Label, Randomized, Comparative, Split-Face Study Evaluating Reconstituted JUVÉDERM® Ultra Injectable Gel Versus COSMODERM® 1 Human Based Collagen Implant for the Treatment of Vertical Lip Rhytids and Radial Cheek Lines Completed NCT01212809 Phase 4
18 A Study Comparing Aczone® Plus Differin® Versus Duac® Plus Differin® in Patients With Severe Facial Acne Completed NCT01231334 Phase 4 Dapsone plus Adapalene;Clindamycin/benzoyl peroxide plus Adapalene
19 Adjunctive Usage of a Moisturizing Lotion (Cetaphil® Moisturizing Lotion) to Limit the Skin Irritation Linked to the Set-up of a Treatment by Topical Retinoid (Differin® Gel 0,1%) in Healthy Subjects of Chinese Origins Completed NCT00971282 Phase 4 adapalen 0.1%
20 A Single-blind, Randomized, Comparative Pilot Study Evaluating the Tolerability of Two Topical Combination Therapies in the Treatment of Acne Vulgaris Completed NCT00887484 Phase 4 BENZOYL PEROXIDE/ CLINDAMYCIN;BENZOYL PEROXIDE/ ADAPALENE
21 Face-to-face Intubation With Glidescope or Airtraq Completed NCT02290249 Phase 4
22 Face-to-face Tracheal Intubation With Fastrach or Videolaryngoscopes Completed NCT02286570 Phase 4
23 Effecacy of Face-to-face Bowel Preparation for Afternoon Colonoscopy: a Randomised Clinical Trial Completed NCT02772250 Phase 4
24 Split-face Study of Changing in Skin Physiology and Clinical Appearance After Microdroplet Placement of Stabilized Hyaluronic Acid in Aging Faces Completed NCT02312154 Phase 4
25 Budesonide Inhalation Suspension for Acute Asthma in Children Completed NCT00393367 Phase 4 Budesonide inhalation suspension (0.5 mg/2mL) 2mg, albuterol (5mg/mL) 7.5 or 10mg;Prednisolone, prednisone, or methylprednisolone;Albuterol, ipratropium bromide;Ipratropium bromide
26 Evaluating Skin Appearance Following 5-Flourouracil Cream for Treatment of Actinic Keratosis and the Effects of Topical Agents Completed NCT03279328 Phase 4 Topical Steroid Ointment;Skin Barrier Moisturier
27 A Randomized, Double-blinded Study to Evaluate the Ability of an Acne Treatment Product to Produce Visible Improvements in Acne Lesions Over a 5 Day Period of Once-daily Use Completed NCT02052752 Phase 4 3% Benzoyl Peroxide;3% Benzoyl Peroxide Placebo;Neutrogena Rapid Clear®
28 A Multi-center, Non-comparative Study to Evaluate the Perception of Facial Expressions Following Correction of Wrinkles and Folds in the Lower Face Using Emervel Classic Lidocaine and Emervel Deep Lidocaine Completed NCT02573337 Phase 4
29 A Randomized Study to Evaluate the Efficacy of Ingenol Mebutate on Actinic Keratoses and Field Cancerization Compared to Cryotherapy Completed NCT02990221 Phase 4 Ingenol mebutate
30 A Comparison of the Face Mask and Oral Mask Ventilation After Nasal Surgery. Completed NCT01869673 Phase 4
31 Anti P. Acnes Activity of Epiduo® Gel Compared to Benzoyl Peroxide (BPO) 2.5% Gel in the Treatment of Subjects With Acne Vulgaris Completed NCT01188538 Phase 4 Epiduo gel;BPO
32 Split-Face Tolerability Comparison Between MetroGel® (Metronidazole Gel) 1% Versus Finacea® (Azelaic Acid) Gel 15% in Subjects With Healthy Skin Completed NCT01139008 Phase 4 metronidazole 1% gel;azelaic acid 15% gel
33 Topical Brimonidine Reduces IPL-induced Erythema Without Affecting Efficacy: a Randomized Controlled Trial in Patients With Facial Telangiectasias Completed NCT02761174 Phase 4 Brimonidine
34 Prospective, Randomized, Controlled, Multicenter, Two-armed, Study Comparing Daylight Photodynamic Therapy Using MAL With Cryosurgery for the Treatment and Prophylaxis of Actinic Keratoses in Photodamaged Skin of the Face Completed NCT02736760 Phase 4 Daylight photodynamic therapy using Methylaminolevulinate (MAL)
35 Split-Face Tolerability Comparison Between MetroGel® (Metronidazole Gel) 1% vs Finacea® (Azelaic Acid) 15% in Subjects With Healthy Skin Completed NCT01139047 Phase 4 metronidazole 1% gel;azelaic acid 15% gel
36 Project 2: Identifying Optimal Smoking Cessation Intervention Components Completed NCT01116986 Phase 4 Long Term Nicotine Patch+ Nicotine Gum During Quit Attempt;Short Term Nicotine Patch + Nicotine Gum during the quit attempt;Pre-Quit Nicotine Gum;Pre-Quit Nicotine Patch;Pre-Quit Nicotine Patch + Pre-Quit Nicotine Gum
37 A Multi-center, OPen, InvEstigator Initiated Phase IV Clinical TRial to Evaluate the Efficacy and SaFety of Ingenol Mebutate Gel 0.015% on Face and Scalp & 0.05% on Trunk and Extremities in KorEan Patient With ACtinic KeraTosis (PERFECT) Completed NCT02716714 Phase 4 ingenol mebutate gel 0.015%;ingenol mebutate gel 0.05%
38 The Efficacy of Salicylic Acid Peels Combined With 4% Hydroquinone Cream Versus 4% Hydroquinone Cream Alone in the Treatment of Hispanic Women With Moderate to Severe Melasma Completed NCT00616239 Phase 4 20-30% Salicylic Acid peels to the right side of the face;20-30% Salicylic Acid peels to the left side of the face
39 Two-week Study to Determine and Compare the Tolerance and Irritation Potential of Topical Antibiotic and Benzoyl Peroxide to Benzoyl Peroxide and Adapalene Topical Gel Acne Medications Completed NCT00926367 Phase 4 Clindamycin and benzoyl peroxide;benzoyl peroxide 2.5% and adapalene 0.1% gel
40 Perioperative Supplemental Oxygen and the Risk of Surgical Site Infection Completed NCT00876005 Phase 4
41 Single-blind, Multicenter, Parallel, Comparative, Randomized, Phase 4 Clinical Trial for the Evaluation of the Quality of Life, Efficacy and Tolerance of Duac® Gel Against Differin® Gel in the Topical Treatment of Mild to Moderate Acne Vulgaris. Completed NCT00807014 Phase 4 Duac Gel;Differin gel
42 An Investigator-Blind, Phase 4 Study Assessing Mitigation of Facial Irritation When Comparing the Use of Two Acne Treatment Products (Retin-A Micro® 0.1 % Pump and Aczone®) With One Treatment Product (Retin-A Micro® 0.1 % Pump) Using a Split-Face Model Completed NCT01313728 Phase 4 Dapsone plus Tretinoin Gel;Tretinoin Gel
43 Monocentric, Randomized, Subject and Rater Blinded Clinical Investigation to Prove the Non-inferiority of Belotero® Basic Versus Juvéderm® Ultra 3 Containing Lidocaine - After Single Injection for Correction of Nasolabial Folds (NLF) Completed NCT01305187 Phase 4
44 A Double Blind Randomized Study Comparing the Ultraviolet (UV) Photoprotection With UV Plus Visible Light Photoprotection in the Treatment of Melasma. Completed NCT01695356 Phase 4 290-400 nm sunscreen;290-800 nm sunscreen
45 An Investigator-Blind, Phase 4 Study Assessing the Facial Irritation Potential of Two Acne Treatment Products Using a Split-Face Model Completed NCT00714714 Phase 4 Adapalene Gel;Tretinoin Gel
46 CSP #562 - The VA Keratinocyte Carcinoma Chemoprevention Trial Completed NCT00847912 Phase 4 5-fluorouracil;Placebo, vehicle control
47 Phase 4 Study of the Impact of Daily Bathing With Chlorhexidine-gluconate Impregnated Bathing Cloths on Nosocomial Infections in Critically Ill Patients Completed NCT02033187 Phase 4
48 An Investigator-Blind, Phase 4 Study Assessing the Facial Irritation Potential of Two Acne Treatment Products (Retin-A Micro Gel, 0.04% Pump and Epiduo Gel) Using a Split-Face Model Completed NCT00952523 Phase 4 Tretinoin Facial Gel;Adapalene/Benzoyl Peroxide Facial Gel
49 Daylight Mediated Photodynamic Therapy for Actinic Keratoses: a Multicentre Study Comparing Two Photosensitizers (BF-200 ALA Versus MAL) Completed NCT02464709 Phase 4 Aminolevulinic Acid;Methyl 5-aminolevulinate
50 Finacea 15% and Brimonidine 0.33% Gel in the Treatment of Rosacea - A Pilot Study Completed NCT02147691 Phase 4 Azelaic acid 15%;Brimonidine 0.33%

Search NIH Clinical Center for Fanconi Anemia, Complementation Group E

Genetic Tests for Fanconi Anemia, Complementation Group E

Genetic tests related to Fanconi Anemia, Complementation Group E:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group E 29 FANCE

Anatomical Context for Fanconi Anemia, Complementation Group E

MalaCards organs/tissues related to Fanconi Anemia, Complementation Group E:

40
Skin, Bone Marrow, Eye, Bone, Prostate, Spinal Cord, Kidney

Publications for Fanconi Anemia, Complementation Group E

Articles related to Fanconi Anemia, Complementation Group E:

(show top 50) (show all 72)
# Title Authors PMID Year
1
Isolation of a cDNA representing the Fanconi anemia complementation group E gene. 6 61 57
11001585 2000
2
The Fanconi anemia group E gene, FANCE, maps to chromosome 6p. 61 6 57
10205272 1999
3
Evidence for at least eight Fanconi anemia genes. 57 6
9382107 1997
4
Classification of Fanconi anemia patients by complementation analysis: evidence for a fifth genetic subtype. 57 6
7662964 1995
5
Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50. 61 6
28678401 2017
6
Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing. 61 6
22778927 2012
7
Mutations in Fanconi anemia genes and the risk of esophageal cancer. 61 6
21279724 2011
8
Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 61 6
17924555 2008
9
Insights into Fanconi Anaemia from the structure of human FANCE. 6 61
17308347 2007
10
Fanconi anemia complementation group E: clinical and cytogenetic data of the first patient. 57 61
9147877 1996
11
Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients. 6
26822949 2016
12
Fanconi anaemia complementation groups in Germany and The Netherlands. European Fanconi Anaemia Research group. 57
8786063 1996
13
Complementation groups: one or more per gene? 57
7581439 1995
14
Structure of the FA core ubiquitin ligase closing the ID clamp on DNA. 61
33686268 2021
15
Comprehensive analysis of macrophage-related multigene signature in the tumor microenvironment of head and neck squamous cancer. 61
33592580 2021
16
Expression and gene regulatory network of SNHG1 in hepatocellular carcinoma. 61
33499863 2021
17
Clinical and Molecular Characterization of Fanconi Anemia Patients in Turkey. 61
33224012 2020
18
Precision medicine phase II study evaluating the efficacy of a double immunotherapy by durvalumab and tremelimumab combined with olaparib in patients with solid cancers and carriers of homologous recombination repair genes mutation in response or stable after olaparib treatment. 61
32778095 2020
19
Clinical and Molecular Correlates of Tumor Mutation Burden in Non-Small Cell Lung Cancer. 61
32505734 2020
20
Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies. 61
31586946 2020
21
Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients. 61
32235514 2020
22
Pituitary stalk interruption syndrome is characterized by genetic heterogeneity. 61
33270637 2020
23
Enhanced DNA repair and genomic stability identify a novel HIV-related diffuse large B-cell lymphoma signature. 61
31044434 2019
24
Multiplexed CRISPR/Cas9-mediated knockout of 19 Fanconi anemia pathway genes in zebrafish revealed their roles in growth, sexual development and fertility. 61
30540754 2018
25
Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings. 61
30306255 2018
26
Molecular characterization and integrative genomic analysis of a panel of newly established penile cancer cell lines. 61
29880898 2018
27
Case study: patient-derived clear cell adenocarcinoma xenograft model longitudinally predicts treatment response. 61
30202792 2018
28
Germline Mutations in Cancer Predisposition Genes are Frequent in Sporadic Sarcomas. 61
28878254 2017
29
Common Variable Immunodeficiency Caused by FANC Mutations. 61
28493158 2017
30
The FA Core Complex Contains a Homo-dimeric Catalytic Module for the Symmetric Mono-ubiquitination of FANCI-FANCD2. 61
27986592 2017
31
Mechanism of Ubiquitination and Deubiquitination in the Fanconi Anemia Pathway. 61
27986371 2017
32
The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer. 61
27165003 2016
33
The Simple Chordate Ciona intestinalis Has a Reduced Complement of Genes Associated with Fanconi Anemia. 61
27279728 2016
34
Dearth and Delayed Maturation of Testicular Germ Cells in Fanconi Anemia E Mutant Male Mice. 61
27486799 2016
35
Primary Ovarian Insufficiency Induced by Fanconi Anemia E Mutation in a Mouse Model. 61
26939056 2016
36
SSIEM 2015 Annual Symposium : Lyon, Fance, August 2015. 61
26231229 2015
37
Analysis of a FANCE Splice Isoform in Regard to DNA Repair. 61
26277624 2015
38
Modularized functions of the Fanconi anemia core complex. 61
24910428 2014
39
The carboxyl terminus of FANCE recruits FANCD2 to the Fanconi Anemia (FA) E3 ligase complex to promote the FA DNA repair pathway. 61
24451376 2014
40
Genetic variants in DNA repair pathway genes and risk of esophageal squamous cell carcinoma and gastric adenocarcinoma in a Chinese population. 61
23504502 2013
41
Fanconi anemia complementation group FANCD2 protein serine 331 phosphorylation is important for fanconi anemia pathway function and BRCA2 interaction. 61
19861535 2009
42
Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group. 61
19405097 2009
43
A possible approach for stem cell gene therapy of Fanconi anemia. 61
19275569 2009
44
FANCM and FAAP24 function in ATR-mediated checkpoint signaling independently of the Fanconi anemia core complex. 61
18995830 2008
45
Chk1-mediated phosphorylation of FANCE is required for the Fanconi anemia/BRCA pathway. 61
17296736 2007
46
Downregulation of Fanconi anemia genes in sporadic head and neck squamous cell carcinoma. 61
17409780 2007
47
Variation in cisplatinum sensitivity is not associated with Fanconi Anemia/BRCA pathway inactivation in head and neck squamous cell carcinoma cell lines. 61
16466850 2007
48
Evidence for subcomplexes in the Fanconi anemia pathway. 61
16720839 2006
49
The nuclear accumulation of the Fanconi anemia protein FANCE depends on FANCC. 61
16513431 2006
50
The Fanconi anemia gene network is conserved from zebrafish to human. 61
16515849 2006

Variations for Fanconi Anemia, Complementation Group E

ClinVar genetic disease variations for Fanconi Anemia, Complementation Group E:

6 (show top 50) (show all 181)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FANCE NM_021922.3(FANCE):c.940C>T (p.Gln314Ter) SNV Pathogenic 859286 GRCh37: 6:35425732-35425732
GRCh38: 6:35457955-35457955
2 FANCE NM_021922.3(FANCE):c.91C>T (p.Gln31Ter) SNV Pathogenic 929569 GRCh37: 6:35420413-35420413
GRCh38: 6:35452636-35452636
3 FANCE NM_021922.3(FANCE):c.248+1G>A SNV Pathogenic 929570 GRCh37: 6:35420571-35420571
GRCh38: 6:35452794-35452794
4 FANCE NM_021922.3(FANCE):c.436del (p.Val146fs) Deletion Pathogenic 929573 GRCh37: 6:35423707-35423707
GRCh38: 6:35455930-35455930
5 FANCE NM_021922.3(FANCE):c.1510-1G>A SNV Pathogenic 929581 GRCh37: 6:35434020-35434020
GRCh38: 6:35466243-35466243
6 FANCE NM_021922.3(FANCE):c.1363del (p.Gln455fs) Deletion Pathogenic 962950 GRCh37: 6:35428375-35428375
GRCh38: 6:35460598-35460598
7 FANCE NM_021922.3(FANCE):c.967C>T (p.Gln323Ter) SNV Pathogenic 963477 GRCh37: 6:35425759-35425759
GRCh38: 6:35457982-35457982
8 FANCE NM_021922.3(FANCE):c.929dup (p.Val311fs) Duplication Pathogenic 655390 rs587778337 GRCh37: 6:35425714-35425715
GRCh38: 6:35457937-35457938
9 FANCE NM_021922.2(FANCE):c.421C>T (p.Arg141Ter) SNV Pathogenic 8710 rs121434506 GRCh37: 6:35423696-35423696
GRCh38: 6:35455919-35455919
10 FANCE NM_021922.2(FANCE):c.355C>T (p.Gln119Ter) SNV Pathogenic 8709 rs121434505 GRCh37: 6:35423630-35423630
GRCh38: 6:35455853-35455853
11 FANCE NM_021922.3(FANCE):c.34dup (p.Glu12fs) Duplication Pathogenic 1033574 GRCh37: 6:35420355-35420356
GRCh38: 6:35452578-35452579
12 FANCE NM_021922.3(FANCE):c.248+2T>C SNV Likely pathogenic 802206 rs1581696699 GRCh37: 6:35420572-35420572
GRCh38: 6:35452795-35452795
13 FANCE NM_021922.3(FANCE):c.1509+1G>A SNV Likely pathogenic 915875 GRCh37: 6:35430692-35430692
GRCh38: 6:35462915-35462915
14 FANCE NM_021922.3(FANCE):c.1114-3_1115delinsGGCA Indel Likely pathogenic 969361 GRCh37: 6:35427105-35427109
GRCh38: 6:35459328-35459332
15 FANCE NM_021922.2(FANCE):c.1111C>T (p.Arg371Trp) SNV Likely pathogenic 566449 rs775076977 GRCh37: 6:35426215-35426215
GRCh38: 6:35458438-35458438
16 FANCE NM_021922.2(FANCE):c.696G>A (p.Glu232=) SNV Conflicting interpretations of pathogenicity 356447 rs147356927 GRCh37: 6:35423971-35423971
GRCh38: 6:35456194-35456194
17 FANCE NM_021922.2(FANCE):c.552A>C (p.Pro184=) SNV Conflicting interpretations of pathogenicity 356446 rs138182352 GRCh37: 6:35423827-35423827
GRCh38: 6:35456050-35456050
18 FANCE NM_021922.2(FANCE):c.1116C>T (p.Ile372=) SNV Conflicting interpretations of pathogenicity 414826 rs143234424 GRCh37: 6:35427110-35427110
GRCh38: 6:35459333-35459333
19 FANCE NM_021922.2(FANCE):c.1310T>C (p.Met437Thr) SNV Conflicting interpretations of pathogenicity 414821 rs142903218 GRCh37: 6:35427531-35427531
GRCh38: 6:35459754-35459754
20 FANCE NM_021922.2(FANCE):c.52C>T (p.Pro18Ser) SNV Conflicting interpretations of pathogenicity 134331 rs552241929 GRCh37: 6:35420374-35420374
GRCh38: 6:35452597-35452597
21 FANCE NM_021922.2(FANCE):c.274C>T (p.Arg92Trp) SNV Conflicting interpretations of pathogenicity 471926 rs375195621 GRCh37: 6:35423549-35423549
GRCh38: 6:35455772-35455772
22 FANCE NM_021922.2(FANCE):c.253C>T (p.Pro85Ser) SNV Conflicting interpretations of pathogenicity 356444 rs145068586 GRCh37: 6:35423528-35423528
GRCh38: 6:35455751-35455751
23 FANCE NM_021922.3(FANCE):c.1333C>T SNV Conflicting interpretations of pathogenicity 134343 rs141551053 GRCh37: 6:35428345-35428345
GRCh38: 6:35460568-35460568
24 FANCE NM_021922.2(FANCE):c.1114-8G>A SNV Conflicting interpretations of pathogenicity 8711 rs878854342 GRCh37: 6:35427100-35427100
GRCh38: 6:35459323-35459323
25 FANCE NM_021922.2(FANCE):c.-105C>T SNV Uncertain significance 356437 rs886061326 GRCh37: 6:35420218-35420218
GRCh38: 6:35452441-35452441
26 FANCE NM_021922.2(FANCE):c.97_105delCTGCAGGCG Microsatellite Uncertain significance 539300 rs780106496 GRCh37: 6:35420409-35420417
GRCh38: 6:35452632-35452640
27 FANCE NM_021922.2(FANCE):c.1510-11C>T SNV Uncertain significance 210981 rs189384185 GRCh37: 6:35434010-35434010
GRCh38: 6:35466233-35466233
28 FANCE NM_021922.2(FANCE):c.598C>T (p.Arg200Cys) SNV Uncertain significance 221623 rs763151358 GRCh37: 6:35423873-35423873
GRCh38: 6:35456096-35456096
29 FANCE NM_021922.2(FANCE):c.1588G>A (p.Ala530Thr) SNV Uncertain significance 408159 rs377415237 GRCh37: 6:35434099-35434099
GRCh38: 6:35466322-35466322
30 FANCE NM_021922.2(FANCE):c.214C>T (p.Pro72Ser) SNV Uncertain significance 408157 rs890865684 GRCh37: 6:35420536-35420536
GRCh38: 6:35452759-35452759
31 FANCE NM_021922.2(FANCE):c.316C>T (p.Arg106Trp) SNV Uncertain significance 539296 rs759034838 GRCh37: 6:35423591-35423591
GRCh38: 6:35455814-35455814
32 FANCE NM_021922.3(FANCE):c.743C>T (p.Ala248Val) SNV Uncertain significance 837436 GRCh37: 6:35424018-35424018
GRCh38: 6:35456241-35456241
33 FANCE NM_021922.3(FANCE):c.1112G>A (p.Arg371Gln) SNV Uncertain significance 940492 GRCh37: 6:35426216-35426216
GRCh38: 6:35458439-35458439
34 FANCE NM_021922.3(FANCE):c.127G>A (p.Gly43Ser) SNV Uncertain significance 949590 GRCh37: 6:35420449-35420449
GRCh38: 6:35452672-35452672
35 FANCE NM_021922.2(FANCE):c.1095A>C (p.Arg365Ser) SNV Uncertain significance 134338 rs141268133 GRCh37: 6:35426199-35426199
GRCh38: 6:35458422-35458422
36 FANCE NM_021922.3(FANCE):c.121C>T (p.Arg41Trp) SNV Uncertain significance 906637 GRCh37: 6:35420443-35420443
GRCh38: 6:35452666-35452666
37 FANCE NM_021922.3(FANCE):c.266G>A (p.Arg89Gln) SNV Uncertain significance 1030773 GRCh37: 6:35423541-35423541
GRCh38: 6:35455764-35455764
38 FANCE NM_021922.3(FANCE):c.1394C>T (p.Thr465Ile) SNV Uncertain significance 1033573 GRCh37: 6:35430576-35430576
GRCh38: 6:35462799-35462799
39 FANCE NM_021922.2(FANCE):c.397C>T (p.Leu133Phe) SNV Uncertain significance 408156 rs759124595 GRCh37: 6:35423672-35423672
GRCh38: 6:35455895-35455895
40 FANCE NM_021922.2(FANCE):c.1610G>T (p.Ter537Leu) SNV Uncertain significance 539293 rs139547269 GRCh37: 6:35434121-35434121
GRCh38: 6:35466344-35466344
41 FANCE NM_021922.3(FANCE):c.1130C>T (p.Ser377Phe) SNV Uncertain significance 905132 GRCh37: 6:35427124-35427124
GRCh38: 6:35459347-35459347
42 FANCE NM_021922.3(FANCE):c.960T>A (p.Ser320Arg) SNV Uncertain significance 998260 GRCh37: 6:35425752-35425752
GRCh38: 6:35457975-35457975
43 FANCE NM_021922.3(FANCE):c.661C>T (p.Arg221Trp) SNV Uncertain significance 1005434 GRCh37: 6:35423936-35423936
GRCh38: 6:35456159-35456159
44 FANCE NM_021922.3(FANCE):c.200T>C (p.Leu67Pro) SNV Uncertain significance 1005762 GRCh37: 6:35420522-35420522
GRCh38: 6:35452745-35452745
45 FANCE NM_021922.3(FANCE):c.929C>T (p.Pro310Leu) SNV Uncertain significance 1007334 GRCh37: 6:35425721-35425721
GRCh38: 6:35457944-35457944
46 FANCE NM_021922.3(FANCE):c.1607C>G (p.Pro536Arg) SNV Uncertain significance 1012140 GRCh37: 6:35434118-35434118
GRCh38: 6:35466341-35466341
47 FANCE NM_021922.2(FANCE):c.400C>T (p.Arg134Cys) SNV Uncertain significance 408154 rs181761362 GRCh37: 6:35423675-35423675
GRCh38: 6:35455898-35455898
48 FANCE NM_021922.2(FANCE):c.206G>A (p.Arg69Gln) SNV Uncertain significance 471924 rs758238449 GRCh37: 6:35420528-35420528
GRCh38: 6:35452751-35452751
49 FANCE NM_021922.2(FANCE):c.298T>A (p.Ser100Thr) SNV Uncertain significance 471927 rs768911543 GRCh37: 6:35423573-35423573
GRCh38: 6:35455796-35455796
50 FANCE NM_021922.2(FANCE):c.929C>G (p.Pro310Arg) SNV Uncertain significance 435149 rs139600847 GRCh37: 6:35425721-35425721
GRCh38: 6:35457944-35457944

Expression for Fanconi Anemia, Complementation Group E

Search GEO for disease gene expression data for Fanconi Anemia, Complementation Group E.

Pathways for Fanconi Anemia, Complementation Group E

Pathways related to Fanconi Anemia, Complementation Group E according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.8 FANCG FANCF FANCE FANCD2 FANCC FANCA
2
Show member pathways
12.34 FANCG FANCF FANCE FANCD2 FANCC FANCA
3 11.6 FANCG FANCF FANCE FANCD2 FANCC FANCA
4
Show member pathways
11.35 FANCG FANCF FANCE FANCD2 FANCC FANCA
5 10.56 FANCG FANCF FANCE FANCD2 FANCC FANCA

GO Terms for Fanconi Anemia, Complementation Group E

Cellular components related to Fanconi Anemia, Complementation Group E according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Fanconi anaemia nuclear complex GO:0043240 9.02 FANCG FANCF FANCE FANCC FANCA

Biological processes related to Fanconi Anemia, Complementation Group E according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.63 FANCG FANCF FANCE FANCD2 FANCC FANCA
2 regulation of DNA-binding transcription factor activity GO:0051090 9.46 FANCD2 FANCA
3 brain morphogenesis GO:0048854 9.43 FANCD2 FANCC
4 DNA repair GO:0006281 9.43 FANCG FANCF FANCE FANCD2 FANCC FANCA
5 gamete generation GO:0007276 9.4 FANCD2 FANCC
6 neuronal stem cell population maintenance GO:0097150 9.37 FANCD2 FANCC
7 regulation of regulatory T cell differentiation GO:0045589 9.32 FANCD2 FANCA
8 regulation of CD40 signaling pathway GO:2000348 9.26 FANCD2 FANCA
9 interstrand cross-link repair GO:0036297 9.1 FANCG FANCF FANCE FANCD2 FANCC FANCA

Sources for Fanconi Anemia, Complementation Group E

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