Property Summary

NCBI Gene PubMed Count 583
PubMed Score 1089.90
PubTator Score 1343.55

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Lipodystrophy 40
Myopathy 185
Acanthosis Nigricans 27
Neuropathy 261
diabetes mellitus 1728
Alopecia 115
Abnormal atrioventricular conduction 1
Abnormal glucose oral tolerance test 3
Abnormal hair whorls 5
Abnormal trabecular bone morphology 6
Abnormal urinary amino-acid findings 38
Abnormality of circulating leptin level 1
Abnormality of fatty-acid metabolism 6
Abnormality of retinal pigmentation 111
Abnormality of the Achilles tendon 3
Abnormality of the cerebral vasculature 6
Abnormality of the intrahepatic bile duct 8
Abnormality of the voice 46
Absence of eyebrows 31
Absence of pubertal development 17
Absence of subcutaneous fat 3
Absent eyebrow 13
Absent eyelashes 16
Absent reflex 92
Absent tendon reflex 92
Acquired flat foot 72
Acro-Osteolysis 12
Acro-osteolysis of distal phalanges 4
Acroosteolysis of distal phalanges (feet) 2
Acute pancreatitis 10
Adenocarcinoma of lung (disorder) 60
Adipose tissue loss 3
Adrenal hypoplasia 12
Agenesis of eyebrows 13
Alopecia universalis 16
Aminoaciduria 38
Angina Pectoris 32
Anomalous pulmonary artery 4
Aortic root dilatation 11
Aortic valve calcification 5
Aortic valve stenosis 28
Aplasia of eyebrows 13
Aplasia of eyelashes 16
Aplasia of the phalanges of the 3rd toe 1
Aplasia/Hypoplasia of the clavicles 2
Aplasia/Hypoplasia of the earlobes 10
Aplasia/Hypoplasia of the eyebrow 31
Aplastic clavicles 6
Arteriosclerosis of small cerebral arteries 3
Atherosclerosis 291
Atherosclerosis of aorta 5
Atrial Fibrillation 124
Atrial Flutter 4
Atrial Septal Defects 85
Atrial arrhythmia 3
Atrophic condition of skin 25
Auricular malformation 41
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 4
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 1
Autosomal recessive predisposition 1442
Axial muscle weakness 6
Axonal degeneration/regeneration 7
Basal cell carcinoma 54
Basal cell nevi 23
Bilateral coxa valga 3
Bipartite clavicle 5
Bird-like facies 4
Blepharophimosis 70
Blepharoptosis 231
Brachydactyly 156
Brachyonychia 6
Bradycardia 36
Broad flat nasal bridge 236
Broad-based gait 19
Bulging forehead 66
Bullet vertebral body 17
Byzanthine arch palate 194
Calcification of mitral valve 2
Calcinosis 70
Calcium pyrophosphate deposition disease 13
Calf muscle hypertrophy 9
Carcinoid tumor of lung 1
Cardiac Arrhythmia 103
Cardiac conduction abnormalities 78
Cardiomyopathy, Familial Idiopathic 1
Choanal Atresia 42
Chubby cheeks 50
Cognitive delay 608
Conduction disorder of the heart 79
Congenital Foot Deformity 4
Congenital Hand Deformities 8
Congenital anomaly of testis 52
Congenital clinodactyly 57
Congenital hypoplasia of clavicle 18
Congenital hypoplasia of lung 48
Congenital muscular dystrophy (disorder) 14
Congenital pes cavus 88
Congestive heart failure 113
Contracture 96
Contracture of joint 93
Contracture of tendo achilles 10
Convex nasal ridge 37
Coronary Arteriosclerosis 6
Coronary artery disease 268
Coronary artery disease, premature 6
Craniofacial disproportion 3
Creatine phosphokinase serum increased 110
Curvature of digit 57
Cyanosis 17
Decreased cervical spine flexion due to contractures of posterior cervical muscles 2
Decreased fertility 33
Decreased joint mobility 53
Decreased motor NCV 22
Decreased number of large and small myelinated fibers 20
Decreased projection of midface 105
Decreased size of teeth 62
Decreased subcutaneous adipose tissue 13
Decreased tendon reflex 122
Decreased testosterone in males 28
Degenerative polyarthritis 115
Delayed Puberty 97
Diabetes Mellitus, Non-Insulin-Dependent 145
Difficulty walking 28
Difficulty walking up stairs 12
Distal amyotrophy 51
Distal limb muscle weakness due to peripheral neuropathy 62
Distal muscle weakness 62
Distal sensory impairment 52
Double ureter 6
Dry Eye Syndromes 8
EKG abnormalities 78
EMG: myopathic abnormalities 22
Early tooth exfoliation 17
Electrocardiogram abnormal 81
Electrocardiogram change 78
Electromyogram abnormal 49
Elevated creatine kinase 110
Emery-Dreifuss Muscular Dystrophy 3 1
Enlarged peripheral nerves 1
Enlarged polycystic ovaries 10
Entropion 22
Epidermal hyperkeratosis 3
Exophthalmos 112
Eyebrow abnormalities 12
Facial fat hyperplasia 1
Facial fat hypertrophy 1
Failure of development of eyelashes 16
Failure to gain weight 365
Familial Partial Lipodystrophy, Type 1 1
Familial Partial Lipodystrophy, Type 2 1
Familial generalized lipodystrophy 5
Familial partial lipodystrophy 12
Fatigue 182
Fatty acids abnormal 6
Feeding difficulties 127
Fetal Growth Retardation 189
Fetal Membranes, Premature Rupture 5
Flatfoot 73
Flattening of facial bones 4
Flexion contracture 93
Flexion contracture - elbow 32
Flexion contractures of joints 93
Foot dorsiflexor weakness 27
Foot-drop 27
Fragile nails 16
Full cheeks 50
Gait abnormality 135
Gait, Drop Foot 24
Generalized amyotrophy 20
Generalized osteoporosis with pathologic fractures 6
Global developmental delay 608
Glycosuria 29
Growth delay 114
Growth failure 114
Growth retardation 115
Hardened artery wall in small cerebral arteries 3
Heart failure 162
Hepatomegaly 285
High density lipoprotein decreased 10
High pitched voice 23
Highly variable severity 157
Hirsutism 47
Hydrops of placenta 2
Hypercholesterolemia 44
Hyperglycemia 137
Hyperglycemia, Postprandial 8
Hyperinsulinemia, fasting 7
Hyperinsulinism 133
Hyperkeratosis 50
Hyperkyphosis 111
Hyperlipidemia 43
Hypernasal voice 39
Hyperopia 70
Hyperphosphatemia (disorder) 17
Hyperplasia of cheeks 50
Hypertensive disease 292
Hypertriglyceridemia result 37
Hypertrophy of cheeks 50
Hypoalphalipoproteinemias 10
Hypodontia 81
Hypogonadism 173
Hypogonadism, Isolated Hypogonadotropic 71
Hypogonadotropic hypogonadism 89
Hypohidrosis 34
Hypoplasia of nipple 16
Hypoplastic facial bones 4
Hypoplastic mandible condyle 275
Hypothyroidism 122
Hypotonia, severe 33
Hypotrichosis 47
Hypotrophic facial bones 4
Hypotrophic malar bone 129
Hypotrophic midface 105
Impaired glucose tolerance 28
Inability to touch chin to chest 2
Inadequate arch length for tooth size 45
Increase in blood pressure 119
Increased adipose tissue around the neck 2
Increased anterioposterior diameter of chest 2
Increased facial adipose tissue 1
Increased intraabdominal fat 3
Increased intramuscular fat 1
Increased number of platelets 14
Increased serum testosterone level 4
Increased testosterone 4
Infant, Small for Gestational Age 176
Infertility 188
Insulin Resistance 72
Insulin resistant diabetes 13
Intermittent claudication 20
Intervertebral Disc Degeneration 5
Intracranial Hemorrhages 16
Intrauterine retardation 176
Joint stiffness 84
Keratitis sicca 6
Keratoconjunctivitis sicca 25
Kidney Neoplasm 29
Kyphoscoliosis deformity of spine 60
Kyphosis deformity of spine 114
Labial pseudohypertrophy 1
Lack of skin elasticity 10
Large auricle 87
Large bregma sutures 46
Large dysplastic ears 87
Large fontanelle 46
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Large, late-closing fontanelle 46
Laryngomalacia 14
Late fontanel closure 28
Late tooth eruption 61
Lesion of oral cavity 2
Lethal tight skin contracture syndrome (disorder) 2
Limb-girdle muscle weakness 12
Lipoatrophy 19
Localized scleroderma 9
Lordosis 54
Loss of subcutaneous adipose tissue in limbs 6
Loss of truncal adipose tissue 2
Low serum estradiol levels 22
Low set ears 181
Lower limb atrophy 8
Lower limb muscle hypotrophy 8
Lung Neoplasms 232
Lytic lesion 32
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) 1
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder) 1
Macrotia 87
Madarosis of eyebrow 13
Malar flattening 129
Malignant neoplasm of skin 15
Mammary Neoplasms 425
Mandibular hypoplasia 275
Mandibuloacral dysostosis 2
Meningioma 41
Mental and motor retardation 608
Metaphyseal widening 22
Micrognathism 275
Microstomia 78
Midface retrusion 105
Mildly increased creatine kinase 20
Missing middle phalanges 2
Mitral regurgitation, mild 32
Mitral valve insufficiency 49
Motor delay 147
Mottled pigmentation 4
Mouth Neoplasms 55
Muscle Cramp 55
Muscle atrophy, lower limb, distal 8
Muscle biopsy shows dystrophic changes 39
Muscle hypotonia 571
Muscle weakness of limb 21
Muscle weakness of upper limb 6
Muscular dystrophy 75
Myalgia 54
Myocardial Infarction 151
Nail Diseases 24
Nail abnormality 22
Nail dysplasia 52
Najjar syndrome 1
Narrow face 54
Narrow nasal ridge 6
Nasal bridge wide 236
Nasal voice 39
Natal Teeth 9
Neck muscle weakness 17
Neoplasm of small intestine 1
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
No development of motor milestones 147
Obesity 678
Onion bulb formation 19
Oral lesion 2
Orbital separation excessive 244
Osteoporosis 363
Overtubulated long bones 2
Ovoid vertebral bodies 17
Papillary renal cell carcinoma 9
Patchy hypo- and hyperpigmentation 1
Patent ductus arteriosus 90
Pediatric failure to thrive 365
Pelvic girdle amyotrophy 2
Pelvic girdle weakness 7
Penile hypospadias 106
Pericardial effusion 14
Peripheral Arterial Diseases 3
Peripheral Neuropathy 134
Peripheral Vascular Diseases 3
Peripheral axonal atrophy 4
Peroneal muscle atrophy 2
Peroneal muscle weakness 1
Pili Torti 6
Pinched nasal tip 2
Plaque build-up in arteries 5
Plaque build-up in arteries supplying blood to heart 6
Polyhydramnios 108
Poor growth 114
Poor head control 14
Postnatal growth retardation 57
Precocious Puberty 28
Precocious atherosclerosis 4
Premature Birth 77
Premature Menopause 31
Premature arteriosclerosis 5
Premature birth of newborn 67
Premature canities 24
Premature hardening of arteries 5
Premature plaque build-up in arteries 4
Premature tooth eruption 5
Premature tooth loss 17
Primary atrial arrhythmia 3
Primary hypogonadism 37
Progressive acroosteolysis of the clavicle 3
Progressive disorder 142
Prominent eyes 96
Prominent forehead 66
Prominent globes 96
Prominent scalp veins 3
Prominent superficial vasculature 3
Prominent superficial veins 3
Proteinuria 144
Prothrombin time increased 7
Protruding eyes 96
Proximal lower limb muscle atrophy 3
Pseudoarthrosis of clavicle 5
Puffy cheeks 50
Pulmonary emphysema 48
Reduced fetal movement 51
Reflex, Deep Tendon, Absent 92
Renal carcinoma 1
Respiratory Insufficiency 132
Respiratory function loss 121
Respiratory insufficiency due to muscle weakness 37
Restricted neck movement due to contractures 2
Reticular pigmentation pattern 7
Reticulate skin pigmentation 7
Retinal Degeneration 106
Retinal pigment epithelial abnormality 111
Retrognathia 54
Round face 45
Round, full face 45
SERUM PHOSPHATE ELEVATED 14
Scapular weakness 23
Sclerocystic Ovaries 17
Scleroderma 7
Scleroderma-like secondary cutaneous sclerosis 7
Sclerosis of hand bone 1
Secondary physiologic amenorrhea 32
Sensorineural Hearing Loss (disorder) 284
Serum cholesterol raised 22
Short cord 5
Short distal phalanges 50
Short hands 50
Short palpebral fissure 38
Short stature 531
Shoulder girdle weakness 10
Shoulder weakness 10
Simple ear 41
Skeletal muscle atrophy 139
Skeletal muscle hypertrophy 16
Skin Erosion 12
Skin Neoplasms 69
Skin Ulcer 48
Skin Wrinkling 7
Sloping shoulders 21
Slow progression 89
Small adrenal gland 12
Small facial bones 4
Small midface 105
Soft calvaria 8
Sparse body hair 32
Sparse eyebrow 42
Sparse eyelashes 31
Sparse hair 59
Sparse or absent eyebrows 31
Sparse scalp hair 42
Sparse/absent eyebrows 31
Spinal rigidity 13
Squamous cell carcinoma of skin 11
Steatohepatitis 44
Stillbirth 17
Stippled pigmentation 4
Stretched skin 10
Structure of wormian bone 24
Subcutaneous calcification 2
Submucous cleft of hard palate 11
Submucous clefting 9
Sudden Cardiac Death 29
Syndactyly 88
Talipes 20
Talipes foot deformities 20
Tapering pointed ends of distal finger phalanges 3
Telangiectasia of the skin 39
Thin bony cortex 9
Thin clavicle 4
Thin face 54
Thin lips 49
Thin nails 5
Thin rib 21
Thin skin 47
Thin, sparse hair 59
Thrombocytosis 38
Thyroid Neoplasm 37
Tooth Crowding 45
Tooth hypoplasia 7
Tooth mass arch size discrepancy 45
Tooth size discrepancy 45
Underdevelopment of facial bones 4
Variable expressivity 157
Ventricular arrhythmia 27
Ventricular hypertrophy 6
Vertical Talus 25
Very poor growth 114
White forelock 12
Wide bregma sutures 46
Widely patent fontanels and sutures 12
Winged scapula 23
Wizened face 9
Xanthomatosis 12
Xerophthalmia 16
muscle degeneration 139
osteosarcoma 7950
ovarian neoplasm 99

Expression

  Differential Expression (22)

Disease log2 FC p
diabetes mellitus -1.700 6.5e-03
osteosarcoma 1.882 9.3e-04
acute quadriplegic myopathy 1.105 2.5e-05
Astrocytoma, Pilocytic 1.300 7.6e-05
atypical teratoid / rhabdoid tumor 1.700 5.8e-05
COPD -1.100 8.6e-03
ependymoma 1.900 1.7e-11
gastric carcinoma 1.700 4.4e-02
glioblastoma 1.100 2.5e-03
lung cancer -1.700 3.8e-05
lung carcinoma -1.500 8.7e-11
mucosa-associated lymphoid tissue lympho... 1.320 2.2e-02
Multiple myeloma 1.439 2.1e-02
ovarian cancer -1.100 9.1e-06
pancreatic cancer 1.200 1.1e-02
pancreatic ductal adenocarcinoma liver m... 1.046 1.5e-02
pediatric high grade glioma 1.500 3.2e-04
primary Sjogren syndrome -1.300 3.2e-02
psoriasis 1.400 4.8e-04
sarcoidosis -1.200 1.6e-02
subependymal giant cell astrocytoma 1.116 4.4e-03
tuberculosis -3.600 1.7e-07

Synonym

Accession P02545 B4DI32 D3DVB0 D6RAQ3 E7EUI9 P02546 Q5I6Y4 Q5I6Y6 Q5TCJ2 Q5TCJ3 Q6UYC3 Q969I8 Q96JA2
Symbols FPL
IDC
LFP
CDDC
EMD2
FPLD
HGPS
LDP1
LMN1
LMNC
MADA
PRO1
CDCD1
CMD1A
FPLD2
LMNL1
CMT2B1
LGMD1B

Gene

Protein-protein Interaction (1)

Gene RIF (483)

AA Sequence

METPSQRRATRSGAQASSTPLSPTRITRLQEKEDLQELNDRLAVYIDRVRSLETENAGLRLRITESEEVV      1 - 70
SREVSGIKAAYEAELGDARKTLDSVAKERARLQLELSKVREEFKELKARNTKKEGDLIAAQARLKDLEAL     71 - 140
LNSKEAALSTALSEKRTLEGELHDLRGQVAKLEAALGEAKKQLQDEMLRRVDAENRLQTMKEELDFQKNI    141 - 210
YSEELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAER    211 - 280
NSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRA    281 - 350
RMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRK    351 - 420
LESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLTYRFPPKFTLK    421 - 490
AGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDEDGDD    491 - 560
LLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASASGSGAQVGGPISSGSSASSVTVTRSYRSVG    561 - 630
GSGGGSFGDNLVTRSYLLGNSSPRTQSPQNCSIM                                        631 - 664
//

Text Mined References (618)

PMID Year Title