CSPG4P12

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: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1behavioral response to nicotine (GO:0035095)5.08642396
2fucose catabolic process (GO:0019317)4.30835060
3L-fucose metabolic process (GO:0042354)4.30835060
4L-fucose catabolic process (GO:0042355)4.30835060
5negative regulation of translation involved in gene silencing by miRNA (GO:0035278)3.90025679
6negative regulation of translation, ncRNA-mediated (GO:0040033)3.90025679
7regulation of translation, ncRNA-mediated (GO:0045974)3.90025679
8epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.73959547
9tryptophan catabolic process (GO:0006569)3.70602769
10indole-containing compound catabolic process (GO:0042436)3.70602769
11indolalkylamine catabolic process (GO:0046218)3.70602769
12indolalkylamine metabolic process (GO:0006586)3.67762384
13cellular ketone body metabolic process (GO:0046950)3.65930271
14kynurenine metabolic process (GO:0070189)3.65288225
15cilium or flagellum-dependent cell motility (GO:0001539)3.49570997
16response to pheromone (GO:0019236)3.36555429
17regulation of hippo signaling (GO:0035330)3.33252282
18detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.24360109
19ketone body metabolic process (GO:1902224)3.20358879
20nonmotile primary cilium assembly (GO:0035058)3.17666933
21gamma-aminobutyric acid transport (GO:0015812)3.11545610
22tryptophan metabolic process (GO:0006568)3.10577988
23interkinetic nuclear migration (GO:0022027)3.07327303
24detection of light stimulus involved in visual perception (GO:0050908)3.05323454
25detection of light stimulus involved in sensory perception (GO:0050962)3.05323454
26axoneme assembly (GO:0035082)3.00652123
27kidney morphogenesis (GO:0060993)2.96153899
28epithelial cilium movement (GO:0003351)2.95497743
29neural tube formation (GO:0001841)2.89708633
30cilium movement (GO:0003341)2.88608337
31indole-containing compound metabolic process (GO:0042430)2.87242359
32positive regulation of sodium ion transmembrane transporter activity (GO:2000651)2.86946054
33primary amino compound metabolic process (GO:1901160)2.85988264
34cilium organization (GO:0044782)2.85200066
35photoreceptor cell maintenance (GO:0045494)2.84573087
36neuronal action potential (GO:0019228)2.82221173
37cilium assembly (GO:0042384)2.79227747
38spinal cord motor neuron differentiation (GO:0021522)2.77573497
39cornea development in camera-type eye (GO:0061303)2.73656663
40nephron tubule morphogenesis (GO:0072078)2.71528404
41nephron epithelium morphogenesis (GO:0072088)2.71528404
42cilium morphogenesis (GO:0060271)2.69116638
43negative regulation of cytosolic calcium ion concentration (GO:0051481)2.68161482
44membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.66472266
45positive regulation of sodium ion transmembrane transport (GO:1902307)2.64726551
46reflex (GO:0060004)2.63865000
47serotonin metabolic process (GO:0042428)2.63275288
48cAMP catabolic process (GO:0006198)2.62528060
49G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.58347452
50membrane depolarization during action potential (GO:0086010)2.57947707
51behavioral response to ethanol (GO:0048149)2.54279183
52cellular response to sterol (GO:0036315)2.53793323
53positive regulation of CREB transcription factor activity (GO:0032793)2.53624326
54somite development (GO:0061053)2.53522444
55sulfation (GO:0051923)2.51198211
56protein K11-linked deubiquitination (GO:0035871)2.50156701
57protein localization to synapse (GO:0035418)2.49485691
58regulation of action potential (GO:0098900)2.48025681
59protein polyglutamylation (GO:0018095)2.46252663
60retinal cone cell development (GO:0046549)2.45950066
61inner ear receptor stereocilium organization (GO:0060122)2.45625921
62peristalsis (GO:0030432)2.44564229
63regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.44023358
64protein import into peroxisome matrix (GO:0016558)2.43845840
65protein localization to cilium (GO:0061512)2.42602356
66presynaptic membrane assembly (GO:0097105)2.41836710
67regulation of gene silencing by RNA (GO:0060966)2.41617024
68regulation of posttranscriptional gene silencing (GO:0060147)2.41617024
69regulation of gene silencing by miRNA (GO:0060964)2.41617024
70transmission of nerve impulse (GO:0019226)2.40738593
71cyclic nucleotide catabolic process (GO:0009214)2.40039955
72retinal ganglion cell axon guidance (GO:0031290)2.39831020
73startle response (GO:0001964)2.39732943
74limb development (GO:0060173)2.39393695
75appendage development (GO:0048736)2.39393695
76regulation of nuclear cell cycle DNA replication (GO:0033262)2.37732327
77urinary tract smooth muscle contraction (GO:0014848)2.37281235
78establishment of protein localization to Golgi (GO:0072600)2.36644547
79water-soluble vitamin biosynthetic process (GO:0042364)2.35345210
80oxidative demethylation (GO:0070989)2.33292943
81reciprocal DNA recombination (GO:0035825)2.32738253
82reciprocal meiotic recombination (GO:0007131)2.32738253
83spinal cord development (GO:0021510)2.31511554
84cellular component assembly involved in morphogenesis (GO:0010927)2.30791179
85pyrimidine nucleobase catabolic process (GO:0006208)2.30405475
86smoothened signaling pathway (GO:0007224)2.29676974
87dendritic spine morphogenesis (GO:0060997)2.29495432
88piRNA metabolic process (GO:0034587)2.28990316
89negative regulation of systemic arterial blood pressure (GO:0003085)2.28830980
90renal tubule morphogenesis (GO:0061333)2.28051814
91fucosylation (GO:0036065)2.26850191
92detection of mechanical stimulus involved in sensory perception (GO:0050974)2.26559381
93monoubiquitinated protein deubiquitination (GO:0035520)2.26519759
94DNA methylation involved in gamete generation (GO:0043046)2.26503883
95respiratory chain complex IV assembly (GO:0008535)2.26443854
96postsynaptic membrane organization (GO:0001941)2.26377711
97snRNA transcription (GO:0009301)2.26059376
98double-strand break repair via homologous recombination (GO:0000724)2.25114245
99central nervous system neuron axonogenesis (GO:0021955)2.24935770
100phasic smooth muscle contraction (GO:0014821)2.24585911

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.09986339
2ZNF274_21170338_ChIP-Seq_K562_Hela3.69309068
3GBX2_23144817_ChIP-Seq_PC3_Human3.36186573
4VDR_22108803_ChIP-Seq_LS180_Human3.19883610
5GLI1_17442700_ChIP-ChIP_MESCs_Mouse3.15640664
6ZFP57_27257070_Chip-Seq_ESCs_Mouse2.62551454
7GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.47347771
8CTBP2_25329375_ChIP-Seq_LNCAP_Human2.30120485
9POU3F2_20337985_ChIP-ChIP_501MEL_Human2.28074167
10IGF1R_20145208_ChIP-Seq_DFB_Human2.24544258
11FUS_26573619_Chip-Seq_HEK293_Human2.16030367
12SALL1_21062744_ChIP-ChIP_HESCs_Human2.13247580
13CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.12289434
14EWS_26573619_Chip-Seq_HEK293_Human2.02670045
15CTBP1_25329375_ChIP-Seq_LNCAP_Human2.01791191
16TAF15_26573619_Chip-Seq_HEK293_Human1.94715173
17P300_19829295_ChIP-Seq_ESCs_Human1.94535219
18AR_21572438_ChIP-Seq_LNCaP_Human1.94011276
19SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.93449784
20AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.92587838
21FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.87611632
22PIAS1_25552417_ChIP-Seq_VCAP_Human1.86465157
23ER_23166858_ChIP-Seq_MCF-7_Human1.81707633
24RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.81182672
25FLI1_27457419_Chip-Seq_LIVER_Mouse1.78862074
26STAT3_23295773_ChIP-Seq_U87_Human1.74906981
27ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.74409152
28SMAD4_21799915_ChIP-Seq_A2780_Human1.73339111
29PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.70904653
30CBX2_27304074_Chip-Seq_ESCs_Mouse1.68525093
31POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.62140058
32TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.62140058
33TCF4_23295773_ChIP-Seq_U87_Human1.56855264
34NR3C1_21868756_ChIP-Seq_MCF10A_Human1.56299028
35UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.55775538
36BCAT_22108803_ChIP-Seq_LS180_Human1.53028331
37SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.53014689
38AR_25329375_ChIP-Seq_VCAP_Human1.50668303
39PCGF2_27294783_Chip-Seq_ESCs_Mouse1.47328138
40MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.46958936
41DROSHA_22980978_ChIP-Seq_HELA_Human1.46243756
42SMAD3_21741376_ChIP-Seq_EPCs_Human1.45289622
43TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.45278655
44REST_21632747_ChIP-Seq_MESCs_Mouse1.43819939
45BMI1_23680149_ChIP-Seq_NPCS_Mouse1.40503676
46EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.40478691
47IRF1_19129219_ChIP-ChIP_H3396_Human1.37241501
48TOP2B_26459242_ChIP-Seq_MCF-7_Human1.37225591
49CBP_20019798_ChIP-Seq_JUKART_Human1.36514094
50IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.36514094
51MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.36496301
52RNF2_27304074_Chip-Seq_NSC_Mouse1.36372315
53RUNX2_22187159_ChIP-Seq_PCA_Human1.32185003
54TCF4_22108803_ChIP-Seq_LS180_Human1.32119298
55TP53_16413492_ChIP-PET_HCT116_Human1.28697135
56EZH2_27304074_Chip-Seq_ESCs_Mouse1.28599465
57EED_16625203_ChIP-ChIP_MESCs_Mouse1.26827004
58PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.26655151
59NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.24965295
60NOTCH1_21737748_ChIP-Seq_TLL_Human1.24615352
61SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.22748942
62ARNT_22903824_ChIP-Seq_MCF-7_Human1.20924684
63JARID2_20064375_ChIP-Seq_MESCs_Mouse1.20262446
64MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.20130548
65SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.19755509
66PCGF2_27294783_Chip-Seq_NPCs_Mouse1.19684209
67OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.19319193
68TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.18172996
69AHR_22903824_ChIP-Seq_MCF-7_Human1.16883640
70HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.15710621
71NANOG_19829295_ChIP-Seq_ESCs_Human1.15313965
72SOX2_19829295_ChIP-Seq_ESCs_Human1.15313965
73SMAD4_21741376_ChIP-Seq_EPCs_Human1.14952891
74PRDM14_20953172_ChIP-Seq_ESCs_Human1.14770215
75SOX2_21211035_ChIP-Seq_LN229_Gbm1.13723855
76TP53_22573176_ChIP-Seq_HFKS_Human1.13188856
77SUZ12_27294783_Chip-Seq_NPCs_Mouse1.12712597
78KLF5_20875108_ChIP-Seq_MESCs_Mouse1.10640502
79JARID2_20075857_ChIP-Seq_MESCs_Mouse1.09380507
80FLI1_21867929_ChIP-Seq_TH2_Mouse1.09200510
81SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.08540307
82EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.08385990
83RXR_22108803_ChIP-Seq_LS180_Human1.07341466
84HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.06907315
85TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.06649816
86TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.04557126
87EZH2_27294783_Chip-Seq_NPCs_Mouse1.02982836
88CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.02580046
89EZH2_27294783_Chip-Seq_ESCs_Mouse1.02563544
90BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.02277479
91TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.00804944
92NANOG_18555785_Chip-Seq_ESCs_Mouse1.00030741
93NFE2_27457419_Chip-Seq_LIVER_Mouse0.99362591
94KDM2B_26808549_Chip-Seq_REH_Human0.98925365
95SMAD3_21741376_ChIP-Seq_ESCs_Human0.98732493
96SUZ12_16625203_ChIP-ChIP_MESCs_Mouse0.97679621
97CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.96882705
98ZNF217_24962896_ChIP-Seq_MCF-7_Human0.95511244
99FOXA1_25329375_ChIP-Seq_VCAP_Human0.95217422
100FOXA1_27270436_Chip-Seq_PROSTATE_Human0.95217422

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003195_calcinosis3.27140988
2MP0000569_abnormal_digit_pigmentation3.13145767
3MP0003136_yellow_coat_color3.05842894
4MP0003646_muscle_fatigue2.57974518
5MP0008877_abnormal_DNA_methylation2.23853441
6MP0005551_abnormal_eye_electrophysiolog2.23351665
7MP0004043_abnormal_pH_regulation2.18452472
8MP0009046_muscle_twitch2.06317478
9MP0001968_abnormal_touch/_nociception2.04552486
10MP0002102_abnormal_ear_morphology1.93671342
11MP0009745_abnormal_behavioral_response1.90079828
12MP0005645_abnormal_hypothalamus_physiol1.88338858
13MP0005646_abnormal_pituitary_gland1.86549123
14MP0002837_dystrophic_cardiac_calcinosis1.77580625
15MP0002653_abnormal_ependyma_morphology1.75055898
16MP0001501_abnormal_sleep_pattern1.72452929
17MP0008057_abnormal_DNA_replication1.72409354
18MP0004885_abnormal_endolymph1.72037315
19MP0002638_abnormal_pupillary_reflex1.71531412
20MP0004142_abnormal_muscle_tone1.67401553
21MP0001486_abnormal_startle_reflex1.66987015
22MP0002938_white_spotting1.65522291
23MP0001485_abnormal_pinna_reflex1.63651702
24MP0005174_abnormal_tail_pigmentation1.62385718
25MP0000631_abnormal_neuroendocrine_gland1.59330442
26MP0004145_abnormal_muscle_electrophysio1.57934113
27MP0002272_abnormal_nervous_system1.57343811
28MP0002736_abnormal_nociception_after1.55173255
29MP0005253_abnormal_eye_physiology1.53394324
30MP0006276_abnormal_autonomic_nervous1.53241857
31MP0008872_abnormal_physiological_respon1.50417319
32MP0003880_abnormal_central_pattern1.50380895
33MP0000427_abnormal_hair_cycle1.49918855
34MP0006072_abnormal_retinal_apoptosis1.49437920
35MP0004147_increased_porphyrin_level1.48194940
36MP0002572_abnormal_emotion/affect_behav1.46792308
37MP0004133_heterotaxia1.44682173
38MP0002064_seizures1.44030854
39MP0000778_abnormal_nervous_system1.41596220
40MP0002557_abnormal_social/conspecific_i1.38638599
41MP0002735_abnormal_chemical_nociception1.38412800
42MP0002928_abnormal_bile_duct1.38066820
43MP0003890_abnormal_embryonic-extraembry1.34810456
44MP0002063_abnormal_learning/memory/cond1.32215923
45MP0003635_abnormal_synaptic_transmissio1.31713111
46MP0000383_abnormal_hair_follicle1.31605408
47MP0001986_abnormal_taste_sensitivity1.30486610
48MP0002876_abnormal_thyroid_physiology1.30334454
49MP0002067_abnormal_sensory_capabilities1.26171591
50MP0004742_abnormal_vestibular_system1.23843089
51MP0005386_behavior/neurological_phenoty1.22811788
52MP0004924_abnormal_behavior1.22811788
53MP0001984_abnormal_olfaction1.19898284
54MP0003937_abnormal_limbs/digits/tail_de1.19793608
55MP0001970_abnormal_pain_threshold1.19608787
56MP0004215_abnormal_myocardial_fiber1.19276586
57MP0002234_abnormal_pharynx_morphology1.17715147
58MP0005171_absent_coat_pigmentation1.14335666
59MP0006292_abnormal_olfactory_placode1.14282575
60MP0008961_abnormal_basal_metabolism1.13577009
61MP0002160_abnormal_reproductive_system1.10501419
62MP0010386_abnormal_urinary_bladder1.10365469
63MP0004130_abnormal_muscle_cell1.06177932
64MP0002751_abnormal_autonomic_nervous1.05120297
65MP0000538_abnormal_urinary_bladder1.04993695
66MP0005423_abnormal_somatic_nervous1.03962067
67MP0000372_irregular_coat_pigmentation1.02653201
68MP0005187_abnormal_penis_morphology1.00366754
69MP0005195_abnormal_posterior_eye0.99960647
70MP0005670_abnormal_white_adipose0.99474778
71MP0002734_abnormal_mechanical_nocicepti0.99432690
72MP0002752_abnormal_somatic_nervous0.99379585
73MP0000955_abnormal_spinal_cord0.99170796
74MP0002733_abnormal_thermal_nociception0.98455427
75MP0003137_abnormal_impulse_conducting0.98330076
76MP0000026_abnormal_inner_ear0.97689141
77MP0002184_abnormal_innervation0.97538384
78MP0003119_abnormal_digestive_system0.96562923
79MP0008775_abnormal_heart_ventricle0.93975727
80MP0003787_abnormal_imprinting0.93880953
81MP0003698_abnormal_male_reproductive0.89895464
82MP0000230_abnormal_systemic_arterial0.89867064
83MP0008995_early_reproductive_senescence0.87518450
84MP0002882_abnormal_neuron_morphology0.86555774
85MP0008875_abnormal_xenobiotic_pharmacok0.86311507
86MP0001502_abnormal_circadian_rhythm0.85069189
87MP0005167_abnormal_blood-brain_barrier0.83883686
88MP0004085_abnormal_heartbeat0.83190285
89MP0002095_abnormal_skin_pigmentation0.82433921
90MP0003045_fibrosis0.81945783
91MP0005084_abnormal_gallbladder_morpholo0.81641071
92MP0005503_abnormal_tendon_morphology0.80412699
93MP0001963_abnormal_hearing_physiology0.79427028
94MP0002229_neurodegeneration0.79009363
95MP0001529_abnormal_vocalization0.78556645
96MP0005389_reproductive_system_phenotype0.77649850
97MP0001324_abnormal_eye_pigmentation0.76952572
98MP0003718_maternal_effect0.76208720
99MP0004859_abnormal_synaptic_plasticity0.74266974
100MP0003283_abnormal_digestive_organ0.73950449

Predicted human phenotypes

RankGene SetZ-score
1Pancreatic cysts (HP:0001737)4.53565848
2Molar tooth sign on MRI (HP:0002419)4.21771936
3Abnormality of midbrain morphology (HP:0002418)4.21771936
4Pancreatic fibrosis (HP:0100732)4.17077325
5True hermaphroditism (HP:0010459)4.03831459
6Hyperventilation (HP:0002883)3.95563115
7Nephronophthisis (HP:0000090)3.76384084
8Type II lissencephaly (HP:0007260)3.74151226
9Genetic anticipation (HP:0003743)3.48622953
10Chronic hepatic failure (HP:0100626)3.37213334
11Abnormality of the renal medulla (HP:0100957)3.33106570
12Congenital stationary night blindness (HP:0007642)3.23431748
13Progressive cerebellar ataxia (HP:0002073)3.05731141
14Abnormality of the renal cortex (HP:0011035)3.02845677
15Cystic liver disease (HP:0006706)3.01967623
16Cerebellar dysplasia (HP:0007033)3.01533547
17Tubular atrophy (HP:0000092)2.98342866
18Gaze-evoked nystagmus (HP:0000640)2.97804378
19Medial flaring of the eyebrow (HP:0010747)2.88026669
20Large for gestational age (HP:0001520)2.82333418
21Protruding tongue (HP:0010808)2.82151865
22Inability to walk (HP:0002540)2.78706051
23Attenuation of retinal blood vessels (HP:0007843)2.64611407
24Febrile seizures (HP:0002373)2.59473354
25Aplasia/Hypoplasia of the tibia (HP:0005772)2.56029971
26Broad-based gait (HP:0002136)2.55965976
27Polydipsia (HP:0001959)2.55539748
28Abnormal drinking behavior (HP:0030082)2.55539748
29Patellar aplasia (HP:0006443)2.52385007
30Clumsiness (HP:0002312)2.52262719
31Lissencephaly (HP:0001339)2.48786755
32Hypoplasia of the pons (HP:0012110)2.46440267
33Abnormality of the pons (HP:0007361)2.44627948
34Concave nail (HP:0001598)2.39985132
35Gait imbalance (HP:0002141)2.38202936
36Decreased circulating renin level (HP:0003351)2.33529309
37Aplasia/Hypoplasia of the patella (HP:0006498)2.32436704
38Absent/shortened dynein arms (HP:0200106)2.30311711
39Dynein arm defect of respiratory motile cilia (HP:0012255)2.30311711
40Birth length less than 3rd percentile (HP:0003561)2.29976803
41Congenital primary aphakia (HP:0007707)2.24747546
42Furrowed tongue (HP:0000221)2.24275305
43Congenital hepatic fibrosis (HP:0002612)2.23177616
44Aplasia/Hypoplasia of the tongue (HP:0010295)2.23036153
45Sclerocornea (HP:0000647)2.22766537
46Abnormal biliary tract physiology (HP:0012439)2.21224657
47Bile duct proliferation (HP:0001408)2.21224657
48Anencephaly (HP:0002323)2.14694068
49Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.14300773
50Abnormality of alanine metabolism (HP:0010916)2.14300773
51Hyperalaninemia (HP:0003348)2.14300773
52Genital tract atresia (HP:0001827)2.13982161
53Keratoconus (HP:0000563)2.12058245
54Increased corneal curvature (HP:0100692)2.12058245
55Abnormality of the renal collecting system (HP:0004742)2.11557652
56Bony spicule pigmentary retinopathy (HP:0007737)2.09570781
57Absent speech (HP:0001344)2.09254041
58Fair hair (HP:0002286)2.06671603
59Abolished electroretinogram (ERG) (HP:0000550)2.06353915
60Progressive inability to walk (HP:0002505)2.05744259
61Vaginal atresia (HP:0000148)2.04524007
62Nephrogenic diabetes insipidus (HP:0009806)2.03240903
63Poor coordination (HP:0002370)2.03188876
64Postaxial foot polydactyly (HP:0001830)2.02678005
65Severe muscular hypotonia (HP:0006829)1.99368323
66Duplicated collecting system (HP:0000081)1.96967599
67Polyuria (HP:0000103)1.96429174
68Chorioretinal atrophy (HP:0000533)1.96240878
69Pachygyria (HP:0001302)1.95893647
70Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.95638483
71Male pseudohermaphroditism (HP:0000037)1.94119298
72Partial agenesis of the corpus callosum (HP:0001338)1.93629368
73Decreased central vision (HP:0007663)1.92586360
74Pendular nystagmus (HP:0012043)1.91478252
75Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.90041060
76Focal seizures (HP:0007359)1.89136911
77Renal cortical cysts (HP:0000803)1.87953086
78Dandy-Walker malformation (HP:0001305)1.86603347
79Bulbous nose (HP:0000414)1.85167609
80Retinal dysplasia (HP:0007973)1.85114818
81Hypoplastic ischia (HP:0003175)1.82459803
82Widely spaced teeth (HP:0000687)1.81646456
83Drooling (HP:0002307)1.81516878
84Highly arched eyebrow (HP:0002553)1.78554747
85Aplasia/Hypoplasia of the uvula (HP:0010293)1.76653010
86Hemiparesis (HP:0001269)1.76586330
87Postaxial hand polydactyly (HP:0001162)1.76422214
88Abnormal ciliary motility (HP:0012262)1.75538412
89Hypothermia (HP:0002045)1.74887857
90Tachypnea (HP:0002789)1.74667393
91Tubulointerstitial nephritis (HP:0001970)1.74562154
92Short foot (HP:0001773)1.73662541
93Optic nerve hypoplasia (HP:0000609)1.73635817
94Abnormal respiratory motile cilium morphology (HP:0005938)1.72703413
95Abnormal respiratory epithelium morphology (HP:0012253)1.72703413
96Preaxial hand polydactyly (HP:0001177)1.70821892
97Hypoplastic labia majora (HP:0000059)1.70684561
98Dialeptic seizures (HP:0011146)1.69380439
99Small hand (HP:0200055)1.68908462
100Atonic seizures (HP:0010819)1.68727047

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK6.71091444
2BMPR1B3.30590982
3ACVR1B2.93345451
4ADRBK22.90105145
5WNK32.59222030
6PNCK2.34850303
7CASK2.25204807
8WNK42.22901954
9INSRR2.14758055
10ZAK2.05688065
11AKT31.99285181
12MAPK131.98315278
13GRK11.96045174
14MAP3K41.85626205
15PINK11.83040437
16MAPK151.74525209
17MARK11.65654332
18MKNK21.64912289
19TAOK31.53689052
20NTRK31.51764710
21STK391.48784636
22CAMK1G1.47063153
23MAP4K21.45166495
24NUAK11.43865051
25DAPK21.43396467
26CAMK1D1.36278694
27TLK11.34663000
28TGFBR11.33066825
29OXSR11.32869410
30TNIK1.31561568
31ADRBK11.21597341
32PAK31.18199990
33PIK3CA1.12822188
34FGFR21.00925566
35EPHA30.97223329
36PRKCE0.95371998
37MAP2K70.92747278
38MAPKAPK30.91292826
39SIK20.90596516
40PRKCG0.87144825
41CAMK10.85268944
42CAMKK20.81969159
43STK38L0.79163729
44NTRK20.79111356
45BRSK20.77606482
46SGK20.76845705
47OBSCN0.74943487
48PHKG10.74459954
49PHKG20.74459954
50DYRK20.70748447
51EPHA40.69263323
52PKN10.69208722
53PRKAA10.65911645
54MAP3K70.64744404
55WEE10.63528930
56NLK0.62291829
57MKNK10.61252452
58CSNK1A1L0.60826108
59PRKAA20.59986387
60CSNK1G10.59190892
61BCR0.59061344
62ERBB20.59026180
63CAMK40.58698797
64BRD40.58200563
65CSNK1G20.57887613
66WNK10.57497875
67SGK4940.57022280
68SGK2230.57022280
69RPS6KA50.55155482
70TRIM280.54602976
71CAMK2A0.53837078
72STK110.52724400
73PTK2B0.52192644
74TRPM70.50408581
75TIE10.48634506
76CHUK0.48379025
77FER0.47593874
78PLK20.46242016
79MUSK0.45699348
80NEK20.45508367
81VRK10.45465726
82CDK30.45306812
83DYRK1A0.44857873
84MAP2K60.44312425
85RPS6KA60.43880615
86PRKACA0.41295790
87STK30.40816526
88MAP2K40.40758785
89MAPKAPK50.40036760
90PRKCZ0.39561549
91ERBB30.38909583
92LATS10.38542314
93CSNK1A10.35451493
94CSNK1G30.35252069
95CSNK1D0.34724070
96IRAK10.32876494
97MYLK0.32171650
98ATM0.31984774
99CHEK20.31699388
100ATR0.31662076

Predicted pathways (KEGG)

RankGene SetZ-score
1Butanoate metabolism_Homo sapiens_hsa006502.76351379
2Nicotine addiction_Homo sapiens_hsa050332.70315016
3Phototransduction_Homo sapiens_hsa047442.49755890
4Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.48349325
5Nitrogen metabolism_Homo sapiens_hsa009102.39105071
6Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.38862385
7Linoleic acid metabolism_Homo sapiens_hsa005912.38667385
8alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.34418639
9Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.24195348
10Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006042.09983950
11Selenocompound metabolism_Homo sapiens_hsa004502.07335931
12Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.06858952
13Maturity onset diabetes of the young_Homo sapiens_hsa049502.06052528
14Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.04678522
15Taste transduction_Homo sapiens_hsa047421.98832586
16ABC transporters_Homo sapiens_hsa020101.87623355
17Fanconi anemia pathway_Homo sapiens_hsa034601.75675412
18Morphine addiction_Homo sapiens_hsa050321.72151316
19Tryptophan metabolism_Homo sapiens_hsa003801.70422257
20Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.66590852
21Homologous recombination_Homo sapiens_hsa034401.65590911
22Ether lipid metabolism_Homo sapiens_hsa005651.65148840
23Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.61753987
24Circadian entrainment_Homo sapiens_hsa047131.56702241
25Insulin secretion_Homo sapiens_hsa049111.50716967
26Olfactory transduction_Homo sapiens_hsa047401.46300008
27GABAergic synapse_Homo sapiens_hsa047271.46031864
28Glutamatergic synapse_Homo sapiens_hsa047241.45911517
29Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.43393830
30Primary bile acid biosynthesis_Homo sapiens_hsa001201.37929790
31Basal transcription factors_Homo sapiens_hsa030221.32434571
32Serotonergic synapse_Homo sapiens_hsa047261.19658193
33Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.16675205
34Ovarian steroidogenesis_Homo sapiens_hsa049131.14698175
35Caffeine metabolism_Homo sapiens_hsa002321.14228631
36Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.13332986
37Steroid hormone biosynthesis_Homo sapiens_hsa001401.11431422
38RNA polymerase_Homo sapiens_hsa030201.11060576
39Calcium signaling pathway_Homo sapiens_hsa040201.03386442
40Propanoate metabolism_Homo sapiens_hsa006401.00149801
41Lysine degradation_Homo sapiens_hsa003100.99577859
42Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.99302400
43Vascular smooth muscle contraction_Homo sapiens_hsa042700.99231265
44Salivary secretion_Homo sapiens_hsa049700.98985062
45Circadian rhythm_Homo sapiens_hsa047100.96553722
46Dorso-ventral axis formation_Homo sapiens_hsa043200.95012424
47Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.92711301
48Dopaminergic synapse_Homo sapiens_hsa047280.92533514
49Retinol metabolism_Homo sapiens_hsa008300.91258232
50Hedgehog signaling pathway_Homo sapiens_hsa043400.91152398
51Cocaine addiction_Homo sapiens_hsa050300.88803982
52One carbon pool by folate_Homo sapiens_hsa006700.88517848
53Peroxisome_Homo sapiens_hsa041460.88070370
54Chemical carcinogenesis_Homo sapiens_hsa052040.87640694
55Cholinergic synapse_Homo sapiens_hsa047250.85801549
56Long-term depression_Homo sapiens_hsa047300.82731032
57Histidine metabolism_Homo sapiens_hsa003400.82150114
58Glycerolipid metabolism_Homo sapiens_hsa005610.81465552
59Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.80559266
60Aldosterone synthesis and secretion_Homo sapiens_hsa049250.78489864
61Cardiac muscle contraction_Homo sapiens_hsa042600.78382557
62Amphetamine addiction_Homo sapiens_hsa050310.77501866
63cAMP signaling pathway_Homo sapiens_hsa040240.75600703
64Fatty acid biosynthesis_Homo sapiens_hsa000610.74945912
65Oxytocin signaling pathway_Homo sapiens_hsa049210.72213003
66beta-Alanine metabolism_Homo sapiens_hsa004100.72077179
67Basal cell carcinoma_Homo sapiens_hsa052170.68909139
68Arachidonic acid metabolism_Homo sapiens_hsa005900.68372133
69RNA degradation_Homo sapiens_hsa030180.65246880
70Gastric acid secretion_Homo sapiens_hsa049710.62583274
71Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.61655293
72Renin secretion_Homo sapiens_hsa049240.61354580
73Vitamin digestion and absorption_Homo sapiens_hsa049770.60972188
74Type II diabetes mellitus_Homo sapiens_hsa049300.60896408
75Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.60276115
76Oxidative phosphorylation_Homo sapiens_hsa001900.59060042
77Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.55314290
78Sulfur relay system_Homo sapiens_hsa041220.54595134
79Regulation of autophagy_Homo sapiens_hsa041400.53403676
80Axon guidance_Homo sapiens_hsa043600.53061153
81cGMP-PKG signaling pathway_Homo sapiens_hsa040220.50884500
82TGF-beta signaling pathway_Homo sapiens_hsa043500.50682153
83Mineral absorption_Homo sapiens_hsa049780.50327438
84Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.49792683
85Protein export_Homo sapiens_hsa030600.49421873
86Hippo signaling pathway_Homo sapiens_hsa043900.49241009
87Huntingtons disease_Homo sapiens_hsa050160.47633748
88Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.44699765
89Steroid biosynthesis_Homo sapiens_hsa001000.44553095
90Fat digestion and absorption_Homo sapiens_hsa049750.43989113
91Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.43483945
92Purine metabolism_Homo sapiens_hsa002300.42843992
93Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.41236007
94Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.39063216
95Glycerophospholipid metabolism_Homo sapiens_hsa005640.38720194
96Pancreatic secretion_Homo sapiens_hsa049720.38387549
97Metabolic pathways_Homo sapiens_hsa011000.33269165
98Bile secretion_Homo sapiens_hsa049760.32459145
99Carbohydrate digestion and absorption_Homo sapiens_hsa049730.30735575
100Vitamin B6 metabolism_Homo sapiens_hsa007500.30086688

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