PRCD

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene is predominantly expressed in the retina, and mutations in this gene are the cause of autosomal recessive retinal degeneration in both humans and dogs. Alternatively spliced transcript variants have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of synapse structural plasticity (GO:0051823)5.50764884
2behavioral response to nicotine (GO:0035095)5.16963847
3axon ensheathment in central nervous system (GO:0032291)5.14112838
4central nervous system myelination (GO:0022010)5.14112838
5synaptic vesicle exocytosis (GO:0016079)5.03607276
6synaptic vesicle docking involved in exocytosis (GO:0016081)4.96416185
7peripheral nervous system neuron development (GO:0048935)4.92351996
8cell migration in hindbrain (GO:0021535)4.76769924
9synaptic vesicle maturation (GO:0016188)4.59050531
10neuromuscular synaptic transmission (GO:0007274)4.58688347
11negative regulation of synaptic transmission, GABAergic (GO:0032229)4.56955262
12regulation of short-term neuronal synaptic plasticity (GO:0048172)4.44747627
13sympathetic nervous system development (GO:0048485)4.28107751
14enteric nervous system development (GO:0048484)4.12556750
15glutamate secretion (GO:0014047)4.05452003
16urinary tract smooth muscle contraction (GO:0014848)3.99702423
17neurotransmitter-gated ion channel clustering (GO:0072578)3.91904468
18postsynaptic membrane organization (GO:0001941)3.83817504
19suckling behavior (GO:0001967)3.75904967
20pyrimidine nucleobase catabolic process (GO:0006208)3.70752304
21membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.66780970
22positive regulation of synapse maturation (GO:0090129)3.60924505
23negative regulation of amino acid transport (GO:0051956)3.56032715
24positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.37697325
25ionotropic glutamate receptor signaling pathway (GO:0035235)3.36058882
26neuronal ion channel clustering (GO:0045161)3.34818614
27peristalsis (GO:0030432)3.30733161
28regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.26061144
29regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.22655065
30neurotransmitter secretion (GO:0007269)3.20441920
31negative regulation of dendrite morphogenesis (GO:0050774)3.19964981
32regulation of synaptic vesicle exocytosis (GO:2000300)3.19355263
33neuron maturation (GO:0042551)3.17481760
34neuronal action potential propagation (GO:0019227)3.15741548
35behavioral response to ethanol (GO:0048149)3.10875115
36vocalization behavior (GO:0071625)3.09620101
37gamma-aminobutyric acid signaling pathway (GO:0007214)3.06662826
38regulation of glutamate receptor signaling pathway (GO:1900449)3.02149869
39regulation of neuronal synaptic plasticity (GO:0048168)2.92192392
40nucleobase catabolic process (GO:0046113)2.92070392
41regulation of skeletal muscle contraction (GO:0014819)2.91866816
42G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.90389003
43synaptic transmission, glutamatergic (GO:0035249)2.89834191
44cell migration involved in heart development (GO:0060973)2.89216233
45neurotransmitter transport (GO:0006836)2.88942221
46protein localization to synapse (GO:0035418)2.88828246
47adenosine receptor signaling pathway (GO:0001973)2.88189205
48regulation of synaptic transmission, GABAergic (GO:0032228)2.88046688
49positive regulation of vesicle fusion (GO:0031340)2.87885087
50neuron cell-cell adhesion (GO:0007158)2.85315740
51auditory behavior (GO:0031223)2.83441720
52regulation of dendrite morphogenesis (GO:0048814)2.83387643
53regulation of synapse maturation (GO:0090128)2.82306039
54mating behavior (GO:0007617)2.82182813
55synaptic transmission, cholinergic (GO:0007271)2.81970682
56detection of temperature stimulus involved in sensory perception (GO:0050961)2.81344362
57detection of temperature stimulus involved in sensory perception of pain (GO:0050965)2.81344362
58detection of light stimulus involved in visual perception (GO:0050908)2.81253144
59detection of light stimulus involved in sensory perception (GO:0050962)2.81253144
60regulation of respiratory gaseous exchange (GO:0043576)2.80853023
61purinergic nucleotide receptor signaling pathway (GO:0035590)2.80166531
62negative regulation of cytosolic calcium ion concentration (GO:0051481)2.80052824
63cardiac ventricle formation (GO:0003211)2.79959658
64neuronal action potential (GO:0019228)2.78505718
65regulation of excitatory postsynaptic membrane potential (GO:0060079)2.77875297
66adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)2.77760424
67neuron fate specification (GO:0048665)2.77503167
68negative regulation of cell aging (GO:0090344)2.76309625
69regulation of cAMP-dependent protein kinase activity (GO:2000479)2.72361047
70positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.72283332
71cardiac chamber formation (GO:0003207)2.71127256
72protein insertion into membrane (GO:0051205)2.69003695
73negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.67297478
74gamma-aminobutyric acid transport (GO:0015812)2.66265939
75regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.65869452
76neurotransmitter catabolic process (GO:0042135)2.65639194
77presynaptic membrane organization (GO:0097090)2.65178777
78neuron-neuron synaptic transmission (GO:0007270)2.64310814
79positive regulation of calcium ion-dependent exocytosis (GO:0045956)2.64067463
80regulation of neurotransmitter levels (GO:0001505)2.61518520
81transepithelial transport (GO:0070633)2.60948206
82peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)2.60313655
83membrane depolarization during action potential (GO:0086010)2.58808455
84glycerophospholipid catabolic process (GO:0046475)2.57836837
85regulation of postsynaptic membrane potential (GO:0060078)2.57126686
86glutamate receptor signaling pathway (GO:0007215)2.56140913
87negative regulation of cardiac muscle cell apoptotic process (GO:0010667)2.55790460
88response to pain (GO:0048265)2.55178821
89potassium ion homeostasis (GO:0055075)2.54512803
90positive regulation of dendritic spine development (GO:0060999)2.52981219
91membrane depolarization (GO:0051899)2.52171918
92regulation of vesicle fusion (GO:0031338)2.51139355
93purinergic receptor signaling pathway (GO:0035587)2.50954574
94regulation of synaptic vesicle transport (GO:1902803)2.48970718
95layer formation in cerebral cortex (GO:0021819)2.47478162
96phosphate ion transmembrane transport (GO:0035435)2.46349463
97negative regulation of axonogenesis (GO:0050771)2.46294564
98social behavior (GO:0035176)2.45640478
99intraspecies interaction between organisms (GO:0051703)2.45640478
100response to dietary excess (GO:0002021)2.45478618

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.80700312
2JARID2_20075857_ChIP-Seq_MESCs_Mouse3.04098017
3EZH2_27294783_Chip-Seq_ESCs_Mouse2.71435149
4IKZF1_21737484_ChIP-ChIP_HCT116_Human2.67167063
5EZH2_27304074_Chip-Seq_ESCs_Mouse2.63425294
6SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.57284693
7EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.49269415
8JARID2_20064375_ChIP-Seq_MESCs_Mouse2.43560308
9SUZ12_27294783_Chip-Seq_ESCs_Mouse2.39799404
10SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.37169359
11MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.34285945
12EED_16625203_ChIP-ChIP_MESCs_Mouse2.31513918
13DROSHA_22980978_ChIP-Seq_HELA_Human2.26312147
14SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.24599982
15NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.24482907
16ERG_21242973_ChIP-ChIP_JURKAT_Human2.20778537
17MTF2_20144788_ChIP-Seq_MESCs_Mouse2.19458343
18EZH2_18974828_ChIP-Seq_MESCs_Mouse2.18338622
19RNF2_18974828_ChIP-Seq_MESCs_Mouse2.18338622
20CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human2.16193099
21REST_21632747_ChIP-Seq_MESCs_Mouse2.16184642
22SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.14983128
23REST_18959480_ChIP-ChIP_MESCs_Mouse2.06964788
24SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.99015732
25SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.96685360
26DNAJC2_21179169_ChIP-ChIP_NT2_Human1.88227414
27THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.72943758
28RARB_27405468_Chip-Seq_BRAIN_Mouse1.72419463
29RNF2_27304074_Chip-Seq_NSC_Mouse1.70175614
30LXR_22292898_ChIP-Seq_THP-1_Human1.69770678
31RNF2_27304074_Chip-Seq_ESCs_Mouse1.69748143
32STAT6_21828071_ChIP-Seq_BEAS2B_Human1.66473880
33CTCF_27219007_Chip-Seq_Bcells_Human1.59055134
34PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.58958366
35CBX2_27304074_Chip-Seq_ESCs_Mouse1.55523730
36ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.54662894
37RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.50364669
38PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.48982299
39AR_21572438_ChIP-Seq_LNCaP_Human1.46291483
40BMI1_23680149_ChIP-Seq_NPCS_Mouse1.43432453
41OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.42471658
42P68_20966046_ChIP-Seq_HELA_Human1.41626609
43MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.41140965
44EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.33961877
45RING1B_27294783_Chip-Seq_ESCs_Mouse1.33569549
46IGF1R_20145208_ChIP-Seq_DFB_Human1.33239587
47PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.32962959
48ZFP281_18757296_ChIP-ChIP_E14_Mouse1.32292992
49BCL6_27268052_Chip-Seq_Bcells_Human1.29554549
50* SMC4_20622854_ChIP-Seq_HELA_Human1.28192442
51SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.27184900
52GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.26486319
53RARG_19884340_ChIP-ChIP_MEFs_Mouse1.25740641
54SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.24886015
55RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.20970459
56SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.17156675
57BCOR_27268052_Chip-Seq_Bcells_Human1.17023737
58* CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.15655046
59CTCF_20526341_ChIP-Seq_ESCs_Human1.14385250
60KDM2B_26808549_Chip-Seq_K562_Human1.13642858
61TET1_21451524_ChIP-Seq_MESCs_Mouse1.11910624
62STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.10892723
63RARA_24833708_ChIP-Seq_LIVER_Mouse1.09827442
64NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse1.08572861
65CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.05927331
66GBX2_23144817_ChIP-Seq_PC3_Human1.05139549
67WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.04849437
68* E2F1_20622854_ChIP-Seq_HELA_Human1.04817599
69RARB_24833708_ChIP-Seq_LIVER_Mouse1.04208772
70* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.03750332
71* OCT4_20526341_ChIP-Seq_ESCs_Human1.03191826
72RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.02454373
73TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.98502217
74GATA1_26923725_Chip-Seq_HPCs_Mouse0.97041693
75* OCT4_19829295_ChIP-Seq_ESCs_Human0.96408562
76NR3C1_23031785_ChIP-Seq_PC12_Mouse0.95902331
77RING1B_27294783_Chip-Seq_NPCs_Mouse0.95562439
78ZFP281_27345836_Chip-Seq_ESCs_Mouse0.94920996
79EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.93533558
80TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.90686922
81POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.90686922
82RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.89702197
83WT1_25993318_ChIP-Seq_PODOCYTE_Human0.88538026
84EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.87885625
85VDR_21846776_ChIP-Seq_THP-1_Human0.87774052
86ZFP57_27257070_Chip-Seq_ESCs_Mouse0.86938802
87MNX1_26342078_ChIP-Seq_MIN6-4N_Mouse0.86819300
88TP53_20018659_ChIP-ChIP_R1E_Mouse0.85282280
89SETDB1_19884255_ChIP-Seq_MESCs_Mouse0.85163992
90ELF1_20517297_ChIP-Seq_JURKAT_Human0.84378434
91CTBP2_25329375_ChIP-Seq_LNCAP_Human0.84156264
92* CTCF_27219007_Chip-Seq_ERYTHROID_Human0.81900413
93JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse0.81763998
94TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.81356396
95YY1_22570637_ChIP-Seq_MALME-3M_Human0.81002405
96SRY_22984422_ChIP-ChIP_TESTIS_Rat0.80725284
97SA1_27219007_Chip-Seq_Bcells_Human0.80086295
98ETS1_21867929_ChIP-Seq_TH2_Mouse0.79436122
99* PHF8_20622854_ChIP-Seq_HELA_Human0.78827551
100ELK4_26923725_Chip-Seq_MESODERM_Mouse0.78343419

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005423_abnormal_somatic_nervous5.53775241
2MP0002822_catalepsy4.38192948
3MP0005171_absent_coat_pigmentation3.85585946
4MP0004859_abnormal_synaptic_plasticity3.38599936
5MP0001968_abnormal_touch/_nociception3.27358786
6MP0001529_abnormal_vocalization2.96520853
7MP0002638_abnormal_pupillary_reflex2.78664329
8MP0003635_abnormal_synaptic_transmissio2.54441619
9MP0010386_abnormal_urinary_bladder2.41691861
10MP0002272_abnormal_nervous_system2.37872943
11MP0001986_abnormal_taste_sensitivity2.37638424
12MP0001984_abnormal_olfaction2.33637396
13MP0004270_analgesia2.32736606
14MP0002735_abnormal_chemical_nociception2.32349327
15MP0000751_myopathy2.05842386
16MP0001970_abnormal_pain_threshold2.05396827
17MP0003329_amyloid_beta_deposits1.98551161
18MP0003880_abnormal_central_pattern1.98262030
19MP0002063_abnormal_learning/memory/cond1.96923924
20MP0009745_abnormal_behavioral_response1.96280291
21MP0006276_abnormal_autonomic_nervous1.94445126
22MP0002064_seizures1.92742860
23MP0002572_abnormal_emotion/affect_behav1.86512009
24MP0002009_preneoplasia1.83891284
25MP0002733_abnormal_thermal_nociception1.82991943
26MP0005499_abnormal_olfactory_system1.75083268
27MP0005394_taste/olfaction_phenotype1.75083268
28MP0002184_abnormal_innervation1.69410539
29MP0001486_abnormal_startle_reflex1.66594105
30MP0001502_abnormal_circadian_rhythm1.64714304
31MP0005503_abnormal_tendon_morphology1.63572558
32MP0002734_abnormal_mechanical_nocicepti1.60382777
33MP0002736_abnormal_nociception_after1.55328901
34MP0005386_behavior/neurological_phenoty1.51049117
35MP0004924_abnormal_behavior1.51049117
36MP0009046_muscle_twitch1.48452213
37MP0005551_abnormal_eye_electrophysiolog1.48024422
38MP0003136_yellow_coat_color1.36860190
39MP0004130_abnormal_muscle_cell1.36065577
40MP0002751_abnormal_autonomic_nervous1.35196342
41MP0002067_abnormal_sensory_capabilities1.33392841
42MP0002557_abnormal_social/conspecific_i1.32497016
43MP0005167_abnormal_blood-brain_barrier1.29681569
44MP0002909_abnormal_adrenal_gland1.27413973
45MP0008569_lethality_at_weaning1.27267066
46MP0003633_abnormal_nervous_system1.26305540
47MP0003631_nervous_system_phenotype1.26206358
48MP0000778_abnormal_nervous_system1.25269568
49MP0006138_congestive_heart_failure1.24334073
50MP0002882_abnormal_neuron_morphology1.22417471
51MP0000955_abnormal_spinal_cord1.17993702
52MP0000538_abnormal_urinary_bladder1.16552925
53MP0005174_abnormal_tail_pigmentation1.16437908
54MP0002066_abnormal_motor_capabilities/c1.14894636
55MP0003122_maternal_imprinting1.14112684
56MP0001905_abnormal_dopamine_level1.12576901
57MP0001756_abnormal_urination1.11992933
58MP0003567_abnormal_fetal_cardiomyocyte1.08956676
59MP0003690_abnormal_glial_cell1.08852565
60MP0000920_abnormal_myelination1.07482999
61MP0003632_abnormal_nervous_system1.06565717
62MP0008874_decreased_physiological_sensi1.04558165
63MP0004811_abnormal_neuron_physiology1.04367620
64MP0001188_hyperpigmentation1.01866544
65MP0001664_abnormal_digestion1.00497600
66MP0000747_muscle_weakness0.99003045
67MP0001501_abnormal_sleep_pattern0.97625295
68MP0000013_abnormal_adipose_tissue0.97047013
69MP0005257_abnormal_intraocular_pressure0.96357979
70MP0008872_abnormal_physiological_respon0.88812047
71MP0008995_early_reproductive_senescence0.88402873
72MP0005535_abnormal_body_temperature0.87406054
73MP0010329_abnormal_lipoprotein_level0.87238987
74MP0000003_abnormal_adipose_tissue0.85434977
75MP0004885_abnormal_endolymph0.84361681
76MP0000604_amyloidosis0.83947722
77MP0002752_abnormal_somatic_nervous0.83702862
78MP0005646_abnormal_pituitary_gland0.82408003
79MP0003890_abnormal_embryonic-extraembry0.81381739
80MP0003879_abnormal_hair_cell0.78408551
81MP0001177_atelectasis0.77386137
82MP0002160_abnormal_reproductive_system0.76737276
83MP0000569_abnormal_digit_pigmentation0.75775712
84MP0002229_neurodegeneration0.75102680
85MP0001485_abnormal_pinna_reflex0.74513048
86MP0005253_abnormal_eye_physiology0.71344775
87MP0002332_abnormal_exercise_endurance0.71092761
88MP0005645_abnormal_hypothalamus_physiol0.70517432
89MP0005330_cardiomyopathy0.68621832
90MP0005084_abnormal_gallbladder_morpholo0.68594517
91MP0004133_heterotaxia0.68556865
92MP0004142_abnormal_muscle_tone0.66869622
93MP0003011_delayed_dark_adaptation0.65100422
94MP0001270_distended_abdomen0.64490734
95MP0009780_abnormal_chondrocyte_physiolo0.63729696
96MP0002152_abnormal_brain_morphology0.63103135
97MP0001324_abnormal_eye_pigmentation0.62733463
98MP0000534_abnormal_ureter_morphology0.62684748
99MP0002102_abnormal_ear_morphology0.62333934
100MP0008789_abnormal_olfactory_epithelium0.61215412

Predicted human phenotypes

RankGene SetZ-score
1Annular pancreas (HP:0001734)6.27662848
2Focal motor seizures (HP:0011153)3.96955324
3Turricephaly (HP:0000262)3.94440994
4Mesangial abnormality (HP:0001966)3.94204147
5Polyphagia (HP:0002591)3.68355068
6Rectal fistula (HP:0100590)3.66869845
7Rectovaginal fistula (HP:0000143)3.66869845
8Vaginal fistula (HP:0004320)3.50090714
9Myokymia (HP:0002411)3.49384458
10* Attenuation of retinal blood vessels (HP:0007843)3.38447903
11Ankle clonus (HP:0011448)3.37650797
12Akinesia (HP:0002304)3.30456416
13Intestinal fistula (HP:0100819)3.29325205
14Abnormality of the corticospinal tract (HP:0002492)3.27543298
15Focal seizures (HP:0007359)3.22433945
16Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)3.11345731
17Degeneration of the lateral corticospinal tracts (HP:0002314)3.11345731
18Choroideremia (HP:0001139)3.07485652
19Abnormal eating behavior (HP:0100738)3.03384195
20Amblyopia (HP:0000646)2.98670457
21Epileptic encephalopathy (HP:0200134)2.92010994
22Hand muscle atrophy (HP:0009130)2.91253513
23Spastic gait (HP:0002064)2.91228119
24Testicular atrophy (HP:0000029)2.87330400
25Atonic seizures (HP:0010819)2.83046426
26Action tremor (HP:0002345)2.81601638
27Myotonia (HP:0002486)2.79882924
28Fetal akinesia sequence (HP:0001989)2.79365281
29Recurrent corneal erosions (HP:0000495)2.77340393
30Abnormality of the phalanges of the 2nd finger (HP:0009541)2.76839135
31Decreased central vision (HP:0007663)2.74018407
32Abnormality of the vocal cords (HP:0008777)2.68820777
33Prolonged partial thromboplastin time (HP:0003645)2.63985639
34Joint hemorrhage (HP:0005261)2.61746918
35Failure to thrive in infancy (HP:0001531)2.58643896
36Congenital stationary night blindness (HP:0007642)2.58064726
37Narrow nasal bridge (HP:0000446)2.52765522
38Limb dystonia (HP:0002451)2.52484157
39Hemorrhage of the eye (HP:0011885)2.50508290
40* Bony spicule pigmentary retinopathy (HP:0007737)2.48142814
41Hypsarrhythmia (HP:0002521)2.47960627
42EEG with generalized epileptiform discharges (HP:0011198)2.46543701
43Epileptiform EEG discharges (HP:0011182)2.46008631
44Aplasia of the musculature (HP:0100854)2.44133263
45Stridor (HP:0010307)2.42537223
46Thin bony cortex (HP:0002753)2.38626477
47Decreased number of large peripheral myelinated nerve fibers (HP:0003387)2.36996194
48Urinary urgency (HP:0000012)2.35444897
49Anteriorly placed anus (HP:0001545)2.29516781
50Upper limb amyotrophy (HP:0009129)2.28039770
51Distal upper limb amyotrophy (HP:0007149)2.28039770
52Facial diplegia (HP:0001349)2.24461748
53Abnormal drinking behavior (HP:0030082)2.23492372
54Polydipsia (HP:0001959)2.23492372
55Coronal craniosynostosis (HP:0004440)2.23240089
56Intestinal atresia (HP:0011100)2.15244725
57Cerebral hypomyelination (HP:0006808)2.14210979
58Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.14146484
59Decreased activity of mitochondrial respiratory chain (HP:0008972)2.14146484
603-Methylglutaconic aciduria (HP:0003535)2.14127486
61Decreased electroretinogram (ERG) amplitude (HP:0000654)2.12061360
62Neurofibrillary tangles (HP:0002185)2.12013269
63Hypoventilation (HP:0002791)2.11018892
64Dyschromatopsia (HP:0007641)2.08831565
65Rapidly progressive (HP:0003678)2.03240218
66Abnormality of the 2nd finger (HP:0004100)2.03130939
67Delayed epiphyseal ossification (HP:0002663)2.02985894
68Partial duplication of the phalanx of hand (HP:0009999)2.00529442
69Rib fusion (HP:0000902)2.00239502
70Depressed nasal tip (HP:0000437)1.99479217
71Ulnar bowing (HP:0003031)1.99313748
72Clonus (HP:0002169)1.96797058
73Alacrima (HP:0000522)1.96568400
74Scanning speech (HP:0002168)1.95928055
75Mutism (HP:0002300)1.93803983
76Supranuclear gaze palsy (HP:0000605)1.93277633
77Impaired social interactions (HP:0000735)1.92374857
78Abnormal social behavior (HP:0012433)1.92374857
79Abnormality of the costochondral junction (HP:0000919)1.92116808
80Febrile seizures (HP:0002373)1.91866070
81Hypophosphatemic rickets (HP:0004912)1.91658498
82Peripheral hypomyelination (HP:0007182)1.91618259
83Myopathic facies (HP:0002058)1.90805770
84Malignant hyperthermia (HP:0002047)1.90376837
85Atrioventricular block (HP:0001678)1.90325843
86Neonatal onset (HP:0003623)1.89978064
87Hypercortisolism (HP:0001578)1.89705072
88Abnormal epiphyseal ossification (HP:0010656)1.88930223
89Gait imbalance (HP:0002141)1.88194409
90Generalized tonic-clonic seizures (HP:0002069)1.87345046
91Lower limb muscle weakness (HP:0007340)1.86807448
92Supernumerary spleens (HP:0009799)1.85937778
93Exotropia (HP:0000577)1.85652369
94Impaired vibration sensation in the lower limbs (HP:0002166)1.84777977
95Hypoplastic nipples (HP:0002557)1.83930387
96Poor eye contact (HP:0000817)1.83546147
97External ophthalmoplegia (HP:0000544)1.82986250
98Patellar aplasia (HP:0006443)1.81642678
99Ulnar claw (HP:0001178)1.81091499
100Increased intramyocellular lipid droplets (HP:0012240)1.79131678

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK13.64914533
2MAPK153.10118961
3CAMKK22.84675386
4DAPK22.51725663
5DYRK1B2.45423833
6FLT32.41307251
7ADRBK22.36742313
8SIK22.29120795
9CAMKK12.25098600
10BMPR1B2.12538897
11PRKD32.00465717
12EPHA41.98105757
13UHMK11.87892582
14CDK191.84022738
15NTRK31.84020026
16WNK41.79921761
17NTRK21.77505615
18DYRK21.75585342
19ADRBK11.60301157
20DYRK31.57492055
21ICK1.55183223
22TRIM281.50250825
23CDK81.47332887
24NTRK11.44462803
25BLK1.36769611
26TESK21.35677375
27DYRK1A1.34653960
28PKN11.29512685
29SGK4941.27677128
30SGK2231.27677128
31PRKCG1.26744769
32MINK11.25634793
33GRK51.25211319
34PRKD21.22884901
35GRK71.20930345
36MAP2K61.19224826
37MAP2K41.15376316
38PAK61.14988857
39CDK51.14736469
40MAPK131.13882731
41KIT1.11705133
42CASK1.11652181
43CAMK2B1.09531935
44MAP2K71.07369204
45MAP3K41.02006606
46PHKG10.98290436
47PHKG20.98290436
48TGFBR10.98146564
49PRKD10.98003038
50CAMK2A0.94943271
51TRIB30.91925502
52CAMK10.91679228
53STK110.90630003
54TYRO30.89975767
55PKN20.89550243
56PRKCH0.89161443
57DAPK30.85402472
58RET0.85264281
59OXSR10.83489545
60PINK10.83066876
61CDK180.81097106
62CDK150.81078595
63DDR20.80788885
64DAPK10.79962123
65CAMK40.78600886
66CDK140.74941593
67CDK11A0.73096822
68CSF1R0.72371642
69MARK20.68440949
70RIPK40.66757201
71PRKCE0.66386530
72PDPK10.65333275
73MAP3K110.65253133
74MAP3K60.64225518
75PRKCZ0.63442581
76PRKAA10.60313565
77RPS6KA20.60291031
78CAMK2G0.59485908
79PRKACA0.59421884
80MUSK0.58403074
81GRK10.58315382
82SYK0.55625876
83TESK10.54428192
84WNK10.53805698
85ERBB20.52885310
86SGK20.47777352
87IRAK20.47756964
88PRKCA0.47259067
89CSNK1G20.46602329
90PRKACG0.46094201
91CSNK1A1L0.45975946
92MAPKAPK50.45728306
93MAP3K120.44320800
94RPS6KA30.38420564
95CSNK1D0.37504618
96PDK10.37298474
97PRKG10.33119140
98CAMK2D0.32842676
99MAP3K50.32172238
100BMX0.31375934

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.82844729
2Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006043.60266984
3Vasopressin-regulated water reabsorption_Homo sapiens_hsa049623.19129482
4Synaptic vesicle cycle_Homo sapiens_hsa047212.87979467
5GABAergic synapse_Homo sapiens_hsa047272.65680433
6Morphine addiction_Homo sapiens_hsa050322.44043449
7Amphetamine addiction_Homo sapiens_hsa050312.29714059
8Cocaine addiction_Homo sapiens_hsa050302.28829350
9Other types of O-glycan biosynthesis_Homo sapiens_hsa005142.12610684
10Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.01078342
11Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.00989892
12Glutamatergic synapse_Homo sapiens_hsa047241.94168931
13Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.92440880
14Circadian entrainment_Homo sapiens_hsa047131.92131482
15Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.83623130
16Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.82682222
17Phototransduction_Homo sapiens_hsa047441.68930595
18Cholinergic synapse_Homo sapiens_hsa047251.68341741
19Sulfur relay system_Homo sapiens_hsa041221.67333688
20Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.62537409
21Taste transduction_Homo sapiens_hsa047421.61382801
22Dopaminergic synapse_Homo sapiens_hsa047281.61156054
23Aldosterone synthesis and secretion_Homo sapiens_hsa049251.57060340
24Long-term potentiation_Homo sapiens_hsa047201.53983797
25Calcium signaling pathway_Homo sapiens_hsa040201.31050245
26Insulin secretion_Homo sapiens_hsa049111.26703893
27Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.26119135
28Oxytocin signaling pathway_Homo sapiens_hsa049211.17695145
29Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.17641628
30Serotonergic synapse_Homo sapiens_hsa047261.16159186
31Collecting duct acid secretion_Homo sapiens_hsa049661.12762811
32Olfactory transduction_Homo sapiens_hsa047401.08038388
33Axon guidance_Homo sapiens_hsa043601.07582522
34Renin secretion_Homo sapiens_hsa049241.07306500
35Sphingolipid metabolism_Homo sapiens_hsa006001.00740883
36Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.99445256
372-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.99088246
38Gastric acid secretion_Homo sapiens_hsa049710.97915554
39Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.97870150
40Circadian rhythm_Homo sapiens_hsa047100.93193193
41cAMP signaling pathway_Homo sapiens_hsa040240.91947583
42Histidine metabolism_Homo sapiens_hsa003400.91828715
43Nitrogen metabolism_Homo sapiens_hsa009100.91330039
44Ether lipid metabolism_Homo sapiens_hsa005650.88114092
45Salivary secretion_Homo sapiens_hsa049700.87311248
46Fructose and mannose metabolism_Homo sapiens_hsa000510.87268894
47Regulation of autophagy_Homo sapiens_hsa041400.86634768
48Neurotrophin signaling pathway_Homo sapiens_hsa047220.83647963
49Glycosaminoglycan degradation_Homo sapiens_hsa005310.79823504
50Alcoholism_Homo sapiens_hsa050340.75341589
51Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.72539925
52Vibrio cholerae infection_Homo sapiens_hsa051100.71859038
53Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.70616136
54Melanogenesis_Homo sapiens_hsa049160.68411241
55Steroid biosynthesis_Homo sapiens_hsa001000.67520778
56Gap junction_Homo sapiens_hsa045400.66778477
57alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.60117657
58Phospholipase D signaling pathway_Homo sapiens_hsa040720.59410377
59Ovarian steroidogenesis_Homo sapiens_hsa049130.57709393
60Endocytosis_Homo sapiens_hsa041440.57500942
61Glycerophospholipid metabolism_Homo sapiens_hsa005640.55540081
62GnRH signaling pathway_Homo sapiens_hsa049120.55222464
63Folate biosynthesis_Homo sapiens_hsa007900.54956731
64Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.54948289
65Phosphatidylinositol signaling system_Homo sapiens_hsa040700.54743142
66ABC transporters_Homo sapiens_hsa020100.53921169
67Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.53907102
68Long-term depression_Homo sapiens_hsa047300.53886777
69Ras signaling pathway_Homo sapiens_hsa040140.53242050
70PPAR signaling pathway_Homo sapiens_hsa033200.52122942
71SNARE interactions in vesicular transport_Homo sapiens_hsa041300.51550413
72Phenylalanine metabolism_Homo sapiens_hsa003600.51175251
73MAPK signaling pathway_Homo sapiens_hsa040100.50665287
74Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.50437372
75Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.49821293
76Carbohydrate digestion and absorption_Homo sapiens_hsa049730.49813786
77Cardiac muscle contraction_Homo sapiens_hsa042600.49509009
78cGMP-PKG signaling pathway_Homo sapiens_hsa040220.45842049
79Dilated cardiomyopathy_Homo sapiens_hsa054140.45383867
80Estrogen signaling pathway_Homo sapiens_hsa049150.44942398
81Vascular smooth muscle contraction_Homo sapiens_hsa042700.43203038
82Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.43130206
83Butanoate metabolism_Homo sapiens_hsa006500.41823720
84Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.41545823
85Other glycan degradation_Homo sapiens_hsa005110.39569728
86Arginine and proline metabolism_Homo sapiens_hsa003300.38232646
87Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.36972560
88Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.35245804
89Bile secretion_Homo sapiens_hsa049760.32102643
90Rap1 signaling pathway_Homo sapiens_hsa040150.31670068
91Glucagon signaling pathway_Homo sapiens_hsa049220.30990420
92Longevity regulating pathway - mammal_Homo sapiens_hsa042110.30182863
93N-Glycan biosynthesis_Homo sapiens_hsa005100.30152165
94Pancreatic secretion_Homo sapiens_hsa049720.29278832
95VEGF signaling pathway_Homo sapiens_hsa043700.27857436
96Chemical carcinogenesis_Homo sapiens_hsa052040.27667595
97Thyroid hormone synthesis_Homo sapiens_hsa049180.27453713
98Phagosome_Homo sapiens_hsa041450.24296921
99AMPK signaling pathway_Homo sapiens_hsa041520.22708379
100Hedgehog signaling pathway_Homo sapiens_hsa043400.20742463

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