Development Level

Tbio 18 | 11,445
Tclin 3 | 613
Tchem 2 | 1,598
Tdark 1 | 6,588

IMPC Phenotype

abnormal heart morphology 2 | 162
enlarged heart 2 | 210
hyperactivity 2 | 148
hypoactivity 2 | 132
preweaning lethality, incomple... 2 | 499
abnormal behavior 1 | 298
abnormal pupil morphology 1 | 2
abnormal whole-body plethysmog... 1 | 4
decreased body weight 1 | 161
decreased circulating amylase ... 1 | 28
decreased circulating calcium ... 1 | 36
decreased circulating triglyce... 1 | 79
decreased leukocyte cell numbe... 1 | 73
decreased lymphocyte cell numb... 1 | 83
impaired pupillary reflex 1 | 26
increased blood uric acid leve... 1 | 5
increased cellular hemoglobin ... 1 | 1
increased circulating potassiu... 1 | 29
increased lean body mass 1 | 172
increased leukocyte cell numbe... 1 | 47
increased mean corpuscular vol... 1 | 92
increased monocyte cell number 1 | 63
limb grasping 1 | 41
macrophthalmia 1 | 2
prolonged PR interval 1 | 15

Disease

Carcinoma 15 | 11,493
Difficulties with night vision 15 | 87
Night Blindness 15 | 101
Retinitis Pigmentosa 15 | 226
Autosomal recessive predisposition 13 | 1,442
Intellectual disability 13 | 1,016
Photodysphoria 13 | 121
Photophobia 13 | 121
Abnormality of retinal pigmentation 12 | 111
Cone dystrophy 12 | 71
Electroretinogram abnormal 12 | 95
Retinal pigment epithelial abnormality 12 | 111
Blind Vision 11 | 111
Blindness, Legal 11 | 110
Cataract 11 | 297
Dull intelligence 11 | 645
Keratoconus 11 | 113
Lens Opacities 11 | 231
Low intelligence 11 | 645
Mental Retardation 11 | 645
Mental deficiency 11 | 645
Nystagmus 11 | 317
Poor school performance 11 | 645
Sensorineural Hearing Loss (disorder) 11 | 284
Abnormality of the retinal vasculature 10 | 59
Anteverted nostril 10 | 191
Atypical scarring of skin 10 | 62
Broad flat nasal bridge 10 | 236
Conductive hearing loss 10 | 123
Congenital anomaly of testis 10 | 52
Congenital hypoplasia of penis 10 | 176
Fundus dystrophy 10 | 83
Glaucoma 10 | 239
Hyperinsulinism 10 | 133
Hypogonadism 10 | 173
Nasal bridge wide 10 | 236
Night blindness, progressive 10 | 51
Obesity 10 | 678
Ophthalmoplegia 10 | 106
Optic Atrophy 10 | 242
Retinal Degeneration 10 | 106
psoriasis 10 | 6,694
Leber congenital amaurosis 9 | 69
Reduced visual acuity 9 | 63
osteosarcoma 8 | 7,950
Abnormality of macular pigmentation 6 | 16
Blindness 6 | 88
Congenital stationary night blindness 6 | 29
Hypoplasia of optic disc 6 | 12
Low Vision 6 | 174
Macular pigmentary changes 6 | 16
Night blindness, congenital stationary 6 | 16
Night blindness, congenital stationary, complete 6 | 10
Night blindness, stationary 6 | 10
Oguchi disease 6 | 10
Severe myopia 6 | 22
Visual Impairment 6 | 174
Bradyopsia 5 | 10
Decreased amplitudes on flash visual electroretinogram 5 | 13
ependymoma 5 | 4,679
medulloblastoma, large-cell 5 | 6,241
Fundus albipunctatus 4 | 10
adult high grade glioma 4 | 3,801
astrocytic glioma 4 | 2,597
cone-rod dystrophy 4 | 59
glioblastoma 4 | 5,792
group 4 medulloblastoma 4 | 1,855
Atrial Fibrillation 3 | 124
Attenuation of retinal blood vessels 3 | 16
Cerebellar vermis aplasia or hypoplasia 3 | 12
Cerebellar vermis aplasia/ hypoplasia 3 | 12
Chronic heart failure 3 | 46
Congenital cerebral hernia 3 | 21
Enhanced S-cone syndrome 3 | 17
Epilepsy 3 | 792
Hemiplegia and hemiparesis 3 | 38
Loss of peripheral vision 3 | 5
Malformations of Cortical Development, Group II 3 | 31
Muscle hypotonia 3 | 571
Myocardial Perfusion Imaging Adjunct 3 | 25
Optic disc abnormalities 3 | 12
Pallor of optic disc 3 | 39
Partial central choroid dystrophy 3 | 11
Platelet Aggregation Inhibition 3 | 22
Prevention of Cerebral Thrombosis 3 | 29
Seizures 3 | 596
Severe visual impairment 3 | 16
Tunnel visual field constriction 3 | 5
Visual field constriction 3 | 36
active Crohn's disease 3 | 922
facioscapulohumeral dystrophy 3 | 288
lung adenocarcinoma 3 | 2,716
lung carcinoma 3 | 2,843
non primary Sjogren syndrome sicca 3 | 891
subependymal giant cell astrocytoma 3 | 2,287
Kidney cancer 2 | 2,613
gastric carcinoma 2 | 807
group 3 medulloblastoma 2 | 4,104
oligodendroglioma 2 | 2,850
primitive neuroectodermal tumor 2 | 3,035

Tissue

Endocrine System 23 | 18,159
Digestive Tract 20 | 17,369
Nervous System 19 | 16,725
Skin and soft tissues 19 | 17,230
Blood and immune system 17 | 16,909
Female tissues 17 | 17,400
Male tissues 17 | 17,142
Urinary Tract 17 | 16,678
Liver and Pancreas 15 | 16,750
Respiratory system 14 | 16,393
Cardiovascular System 13 | 15,192

Target Family

Enzyme 10 | 4,145
Non-IDG 7 | 12,091
Kinase 3 | 634
Ion Channel 2 | 344
GPCR 1 | 408
Transporter 1 | 473

PathwayCommons: pid Pathway

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This is where graphics are reside..
Name Gene Development Level Target Family Log Novelty  Pubmed Score  Antibody Count  Knowledge Availability 
Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha PDE6A Tclin Enzyme -1.29228 20.3 111
Retinal guanylyl cyclase 1 GUCY2D Tbio Kinase -2.20658 167.7 205
Guanylyl cyclase-activating protein 3 GUCA1C Tdark Enzyme 0.02 1.10 125
Guanylyl cyclase-activating protein 2 GUCA1B Tbio Enzyme -1.63232 42.4 122
Retinal guanylyl cyclase 2 GUCY2F Tbio Kinase -1.00236 7.60 84
Regulator of G-protein signaling 9-binding protein RGS9BP Tbio Non-IDG -1.27334 21.8 16
Guanylyl cyclase-activating protein 1 GUCA1A Tbio Enzyme -1.91695 89.7 135
Sodium/potassium/calcium exchanger 1 SLC24A1 Tbio Transporter -1.90810 81.5 92
cGMP-gated cation channel alpha-1 CNGA1 Tchem Ion Channel -1.86143 69.8 62
Retinol dehydrogenase 12 RDH12 Tbio Enzyme -1.56819 38.9 67