CACNA1A

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: Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-18 to 21-33 in the coding region is associated with spinocerebellar ataxia 6. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1locomotory exploration behavior (GO:0035641)6.38167416
2regulation of short-term neuronal synaptic plasticity (GO:0048172)6.23259980
3synaptic vesicle maturation (GO:0016188)6.12934495
4positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.93836881
5positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.79593209
6behavioral response to nicotine (GO:0035095)5.77143074
7vocalization behavior (GO:0071625)5.72916333
8regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.42140276
9ionotropic glutamate receptor signaling pathway (GO:0035235)5.35671108
10neuronal action potential propagation (GO:0019227)5.22555295
11synaptic vesicle exocytosis (GO:0016079)5.18279863
12glutamate secretion (GO:0014047)5.04771625
13regulation of synaptic vesicle exocytosis (GO:2000300)4.91321573
14glutamate receptor signaling pathway (GO:0007215)4.88678864
15regulation of glutamate receptor signaling pathway (GO:1900449)4.86470105
16synaptic vesicle docking involved in exocytosis (GO:0016081)4.68118231
17cellular potassium ion homeostasis (GO:0030007)4.66833446
18exploration behavior (GO:0035640)4.59785227
19cerebellar granule cell differentiation (GO:0021707)4.58782329
20* synaptic transmission, glutamatergic (GO:0035249)4.55493580
21* neurotransmitter secretion (GO:0007269)4.55183671
22sodium ion export (GO:0071436)4.44044931
23protein localization to synapse (GO:0035418)4.36167058
24regulation of synaptic vesicle transport (GO:1902803)4.36156433
25long-term memory (GO:0007616)4.35781526
26positive regulation of synapse maturation (GO:0090129)4.34306365
27regulation of long-term neuronal synaptic plasticity (GO:0048169)4.32520572
28serotonin metabolic process (GO:0042428)4.30170765
29G-protein coupled glutamate receptor signaling pathway (GO:0007216)4.28765225
30regulation of neuronal synaptic plasticity (GO:0048168)4.23794288
31layer formation in cerebral cortex (GO:0021819)4.23653616
32response to pheromone (GO:0019236)4.21110944
33membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.18111094
34neuron cell-cell adhesion (GO:0007158)4.17313333
35* neuron-neuron synaptic transmission (GO:0007270)4.10192746
36dendritic spine morphogenesis (GO:0060997)4.04926248
37sulfation (GO:0051923)4.01498848
38neurotransmitter-gated ion channel clustering (GO:0072578)3.99768264
39regulation of excitatory postsynaptic membrane potential (GO:0060079)3.97827423
40* cerebellar Purkinje cell differentiation (GO:0021702)3.97814528
41primary amino compound metabolic process (GO:1901160)3.96159256
42cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.93271829
43regulation of synapse structural plasticity (GO:0051823)3.93102910
44neuromuscular process controlling posture (GO:0050884)3.88764471
45positive regulation of membrane potential (GO:0045838)3.86478668
46regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.84351323
47regulation of postsynaptic membrane potential (GO:0060078)3.78920786
48synaptic vesicle endocytosis (GO:0048488)3.77905079
49cellular response to ATP (GO:0071318)3.75863667
50proline transport (GO:0015824)3.74206589
51positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.73571462
52* gamma-aminobutyric acid transport (GO:0015812)3.70461613
53regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.67410735
54* neurotransmitter transport (GO:0006836)3.67093143
55* neuromuscular process controlling balance (GO:0050885)3.65105983
56cell communication by electrical coupling (GO:0010644)3.59740599
57activation of protein kinase A activity (GO:0034199)3.50397872
58glycine transport (GO:0015816)3.49962557
59regulation of synaptic plasticity (GO:0048167)3.45714496
60* membrane depolarization during action potential (GO:0086010)3.45286939
61* regulation of neurotransmitter levels (GO:0001505)3.39576946
62regulation of synaptic transmission, glutamatergic (GO:0051966)3.38949791
63regulation of synapse maturation (GO:0090128)3.37874788
64regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.37239131
65auditory behavior (GO:0031223)3.36135385
66* membrane depolarization (GO:0051899)3.35878116
67* gamma-aminobutyric acid signaling pathway (GO:0007214)3.35455742
68potassium ion import (GO:0010107)3.35395705
69presynaptic membrane assembly (GO:0097105)3.35183577
70* regulation of neurotransmitter secretion (GO:0046928)3.34749737
71regulation of ARF protein signal transduction (GO:0032012)3.33691533
72neuronal action potential (GO:0019228)3.32805911
73cell proliferation in forebrain (GO:0021846)3.32519694
74regulation of dendritic spine morphogenesis (GO:0061001)3.31595796
75* cell differentiation in hindbrain (GO:0021533)3.31538620
76regulation of neurotransmitter uptake (GO:0051580)3.28832578
77chemosensory behavior (GO:0007635)3.28292893
78postsynaptic membrane organization (GO:0001941)3.28122397
79membrane hyperpolarization (GO:0060081)3.27669945
80presynaptic membrane organization (GO:0097090)3.26156742
81regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.25835214
82neuron recognition (GO:0008038)3.24537901
83negative regulation of synaptic transmission, GABAergic (GO:0032229)3.23388413
84regulation of vesicle fusion (GO:0031338)3.22043710
85prepulse inhibition (GO:0060134)3.21899472
86indole-containing compound metabolic process (GO:0042430)3.20987435
87axonal fasciculation (GO:0007413)3.17403412
88long-term synaptic potentiation (GO:0060291)3.16868633
89* transmission of nerve impulse (GO:0019226)3.16635765
90* dendrite morphogenesis (GO:0048813)3.15468489
91axon ensheathment in central nervous system (GO:0032291)3.13445592
92central nervous system myelination (GO:0022010)3.13445592
93L-amino acid import (GO:0043092)3.12351798
94negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.08874187
95positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.08813459
96response to auditory stimulus (GO:0010996)3.08118595
97cellular sodium ion homeostasis (GO:0006883)3.06841012
98kynurenine metabolic process (GO:0070189)3.06466360
99* regulation of neurotransmitter transport (GO:0051588)3.06288984
100positive regulation of dendritic spine development (GO:0060999)3.06122584
101* neuromuscular process (GO:0050905)3.04604284
102innervation (GO:0060384)3.04278491
103positive regulation of potassium ion transmembrane transport (GO:1901381)3.03527112
104indolalkylamine metabolic process (GO:0006586)3.02608392
105indolalkylamine catabolic process (GO:0046218)3.02548450
106tryptophan catabolic process (GO:0006569)3.02548450
107indole-containing compound catabolic process (GO:0042436)3.02548450
108spinal cord development (GO:0021510)3.01016936
109positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.00120308
110neuronal ion channel clustering (GO:0045161)2.99949591
111social behavior (GO:0035176)2.98752459
112intraspecies interaction between organisms (GO:0051703)2.98752459
113learning (GO:0007612)2.98738097
114establishment of nucleus localization (GO:0040023)2.98723234
115negative regulation of cytosolic calcium ion concentration (GO:0051481)2.98447094
116* adult walking behavior (GO:0007628)2.98401006
117vesicle transport along microtubule (GO:0047496)2.97739697
118potassium ion homeostasis (GO:0055075)2.97276778
119positive regulation of synaptic transmission, GABAergic (GO:0032230)2.96554868
120dendritic spine organization (GO:0097061)2.96460080
121startle response (GO:0001964)2.89840880
122regulation of gene silencing by RNA (GO:0060966)2.88590442
123regulation of posttranscriptional gene silencing (GO:0060147)2.88590442
124regulation of gene silencing by miRNA (GO:0060964)2.88590442
125nephron tubule morphogenesis (GO:0072078)2.87325442
126nephron epithelium morphogenesis (GO:0072088)2.87325442
127detection of light stimulus involved in sensory perception (GO:0050962)2.83762266
128detection of light stimulus involved in visual perception (GO:0050908)2.83762266
129phosphorelay signal transduction system (GO:0000160)2.79695483
130cellular potassium ion transport (GO:0071804)2.79078033
131potassium ion transmembrane transport (GO:0071805)2.79078033
1323-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)2.78029837
133purine ribonucleoside bisphosphate metabolic process (GO:0034035)2.78029837
134negative regulation of systemic arterial blood pressure (GO:0003085)2.74638141
135mechanosensory behavior (GO:0007638)2.74404203
136protein polyglutamylation (GO:0018095)2.73873466
137peristalsis (GO:0030432)2.72572783
138regulation of dopamine uptake involved in synaptic transmission (GO:0051584)2.72197644
139regulation of catecholamine uptake involved in synaptic transmission (GO:0051940)2.72197644
140limb development (GO:0060173)2.69800382
141appendage development (GO:0048736)2.69800382
142ovulation cycle (GO:0042698)2.67436241
143action potential (GO:0001508)2.66666085
144positive regulation of fatty acid beta-oxidation (GO:0032000)2.66012045
145alanine transport (GO:0032328)2.64202697
146positive regulation of sodium ion transmembrane transport (GO:1902307)2.64161922
147positive regulation of CREB transcription factor activity (GO:0032793)2.61722233
148membrane repolarization during cardiac muscle cell action potential (GO:0086013)2.59475812
149potassium ion transport (GO:0006813)2.58023992
150regulation of action potential (GO:0098900)2.57073210
151negative regulation of appetite (GO:0032099)2.56648564
152negative regulation of response to food (GO:0032096)2.56648564
153water-soluble vitamin biosynthetic process (GO:0042364)2.56289863

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.17004178
2GBX2_23144817_ChIP-Seq_PC3_Human3.24941224
3SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.02404656
4SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.99062454
5* DROSHA_22980978_ChIP-Seq_HELA_Human2.97859071
6JARID2_20064375_ChIP-Seq_MESCs_Mouse2.92661184
7* REST_21632747_ChIP-Seq_MESCs_Mouse2.85386052
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.70497832
9RNF2_18974828_ChIP-Seq_MESCs_Mouse2.70497832
10IKZF1_21737484_ChIP-ChIP_HCT116_Human2.57352616
11* RARB_27405468_Chip-Seq_BRAIN_Mouse2.56739108
12JARID2_20075857_ChIP-Seq_MESCs_Mouse2.54220465
13* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.49580118
14* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.44865233
15SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.43087747
16SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.38933413
17SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.35485765
18* EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.34333061
19EZH2_27304074_Chip-Seq_ESCs_Mouse2.25833629
20* REST_18959480_ChIP-ChIP_MESCs_Mouse2.25161610
21EZH2_27294783_Chip-Seq_ESCs_Mouse2.23903881
22ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.20033304
23MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.17862392
24EED_16625203_ChIP-ChIP_MESCs_Mouse2.16253631
25RNF2_27304074_Chip-Seq_ESCs_Mouse2.15617463
26SUZ12_27294783_Chip-Seq_ESCs_Mouse2.12911247
27CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.96637732
28GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.93619192
29VDR_22108803_ChIP-Seq_LS180_Human1.86978172
30* BMI1_23680149_ChIP-Seq_NPCS_Mouse1.81726035
31* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.72255355
32ERG_21242973_ChIP-ChIP_JURKAT_Human1.71507568
33NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.70293184
34RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.68403082
35AR_21572438_ChIP-Seq_LNCaP_Human1.61346978
36SMAD4_21799915_ChIP-Seq_A2780_Human1.60133887
37RNF2_27304074_Chip-Seq_NSC_Mouse1.54606445
38ZNF274_21170338_ChIP-Seq_K562_Hela1.52852421
39FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.48367093
40* CTBP2_25329375_ChIP-Seq_LNCAP_Human1.45650292
41TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.45382818
42CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.39264276
43* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.37667477
44PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.37425921
45KDM2B_26808549_Chip-Seq_K562_Human1.36775376
46* AR_19668381_ChIP-Seq_PC3_Human1.32895784
47* CTBP1_25329375_ChIP-Seq_LNCAP_Human1.29867183
48* STAT3_23295773_ChIP-Seq_U87_Human1.29189138
49* SOX2_21211035_ChIP-Seq_LN229_Gbm1.28641483
50DNAJC2_21179169_ChIP-ChIP_NT2_Human1.26279554
51SMAD_19615063_ChIP-ChIP_OVARY_Human1.25237421
52RING1B_27294783_Chip-Seq_ESCs_Mouse1.23785159
53* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.23005748
54SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.22972492
55TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.21678261
56FUS_26573619_Chip-Seq_HEK293_Human1.21582461
57NR3C1_23031785_ChIP-Seq_PC12_Mouse1.19680425
58RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.18205670
59POU3F2_20337985_ChIP-ChIP_501MEL_Human1.17602896
60BCAT_22108803_ChIP-Seq_LS180_Human1.16344571
61AR_25329375_ChIP-Seq_VCAP_Human1.15412391
62* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.15060857
63ZNF217_24962896_ChIP-Seq_MCF-7_Human1.15036642
64PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.14098646
65MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.13641143
66ER_23166858_ChIP-Seq_MCF-7_Human1.13632590
67GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.13626839
68SMAD3_21741376_ChIP-Seq_EPCs_Human1.13624149
69SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.13060654
70* TCF4_23295773_ChIP-Seq_U87_Human1.11003418
71TP53_16413492_ChIP-PET_HCT116_Human1.09580289
72UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.09200549
73ZFP281_18757296_ChIP-ChIP_E14_Mouse1.08840809
74RING1B_27294783_Chip-Seq_NPCs_Mouse1.08583032
75* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.08526293
76EWS_26573619_Chip-Seq_HEK293_Human1.08103676
77RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.07164075
78* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.06783162
79BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.06597479
80TAF15_26573619_Chip-Seq_HEK293_Human1.06476455
81BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.06403440
82CBP_20019798_ChIP-Seq_JUKART_Human1.06165544
83IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.06165544
84PRDM14_20953172_ChIP-Seq_ESCs_Human1.05995840
85MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.05975453
86P300_19829295_ChIP-Seq_ESCs_Human1.05952832
87ARNT_22903824_ChIP-Seq_MCF-7_Human1.04966869
88CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.03931298
89KDM2B_26808549_Chip-Seq_REH_Human1.03914350
90HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.03442176
91TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.02781208
92AHR_22903824_ChIP-Seq_MCF-7_Human1.02439800
93TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.01506611
94* SMAD3_21741376_ChIP-Seq_ESCs_Human1.00906427
95PIAS1_25552417_ChIP-Seq_VCAP_Human1.00829250
96P53_22127205_ChIP-Seq_FIBROBLAST_Human1.00763528
97ZFP57_27257070_Chip-Seq_ESCs_Mouse1.00192600
98SMAD4_21741376_ChIP-Seq_EPCs_Human0.99605105
99* ZFP281_27345836_Chip-Seq_ESCs_Mouse0.99182741
100CDX2_19796622_ChIP-Seq_MESCs_Mouse0.98934283
101TOP2B_26459242_ChIP-Seq_MCF-7_Human0.97995593
102* TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.97540389
103* MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.96889043
104IGF1R_20145208_ChIP-Seq_DFB_Human0.96867192
105VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.96346818
106SMAD4_21741376_ChIP-Seq_HESCs_Human0.95978994
107SMAD3_21741376_ChIP-Seq_HESCs_Human0.95837595
108TP53_20018659_ChIP-ChIP_R1E_Mouse0.95572460
109PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.94896517
110OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.94395815
111FLI1_21867929_ChIP-Seq_TH2_Mouse0.94389086
112THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.92945431
113CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.92809076
114AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.92763662
115* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.92722411
116RUNX2_22187159_ChIP-Seq_PCA_Human0.92326060
117POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.91881189
118TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91881189
119* TET1_21490601_ChIP-Seq_MESCs_Mouse0.91613289
120CBX2_27304074_Chip-Seq_ESCs_Mouse0.88738799
121* CTNNB1_20460455_ChIP-Seq_HCT116_Human0.88355972
122NR3C1_21868756_ChIP-Seq_MCF10A_Human0.87907279
123RXR_22108803_ChIP-Seq_LS180_Human0.87128781
124GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.86198585
125SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.85172717
126SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.85084396
127* DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.84706836

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.85020473
2* MP0003635_abnormal_synaptic_transmissio4.31957819
3MP0003880_abnormal_central_pattern4.13234387
4* MP0009046_muscle_twitch3.82380361
5MP0004270_analgesia3.67057115
6* MP0009745_abnormal_behavioral_response3.41197582
7MP0002063_abnormal_learning/memory/cond3.25660821
8* MP0002064_seizures3.23269506
9MP0001968_abnormal_touch/_nociception3.02186657
10MP0005423_abnormal_somatic_nervous2.93183244
11MP0002572_abnormal_emotion/affect_behav2.86005770
12* MP0002272_abnormal_nervous_system2.79282148
13* MP0002734_abnormal_mechanical_nocicepti2.60960398
14MP0001486_abnormal_startle_reflex2.59093780
15MP0003646_muscle_fatigue2.54995857
16* MP0008569_lethality_at_weaning2.44215372
17MP0001501_abnormal_sleep_pattern2.39972598
18MP0002735_abnormal_chemical_nociception2.35664230
19MP0001440_abnormal_grooming_behavior2.33792291
20MP0002736_abnormal_nociception_after2.29199641
21* MP0002067_abnormal_sensory_capabilities2.22875493
22MP0000569_abnormal_digit_pigmentation2.17640266
23MP0002184_abnormal_innervation2.04338356
24* MP0002733_abnormal_thermal_nociception1.93734269
25* MP0001970_abnormal_pain_threshold1.91423382
26MP0002822_catalepsy1.88308061
27MP0002909_abnormal_adrenal_gland1.85879213
28MP0004858_abnormal_nervous_system1.84847968
29MP0006292_abnormal_olfactory_placode1.84798347
30MP0009780_abnormal_chondrocyte_physiolo1.83939296
31* MP0002557_abnormal_social/conspecific_i1.77448167
32MP0004811_abnormal_neuron_physiology1.75568433
33MP0003329_amyloid_beta_deposits1.74701060
34MP0005386_behavior/neurological_phenoty1.73227819
35MP0004924_abnormal_behavior1.73227819
36MP0004130_abnormal_muscle_cell1.71142349
37MP0000778_abnormal_nervous_system1.69814683
38MP0003879_abnormal_hair_cell1.68246746
39MP0000955_abnormal_spinal_cord1.67905099
40MP0002837_dystrophic_cardiac_calcinosis1.67642345
41MP0004885_abnormal_endolymph1.58080882
42MP0003787_abnormal_imprinting1.56021151
43MP0003195_calcinosis1.54597854
44MP0008877_abnormal_DNA_methylation1.53669067
45* MP0002066_abnormal_motor_capabilities/c1.51066067
46MP0002653_abnormal_ependyma_morphology1.50070101
47MP0004133_heterotaxia1.44805173
48MP0003283_abnormal_digestive_organ1.42630945
49* MP0002882_abnormal_neuron_morphology1.42330228
50* MP0003633_abnormal_nervous_system1.34532564
51MP0005646_abnormal_pituitary_gland1.33725097
52MP0002160_abnormal_reproductive_system1.31067827
53MP0005377_hearing/vestibular/ear_phenot1.29236808
54MP0003878_abnormal_ear_physiology1.29236808
55MP0001984_abnormal_olfaction1.29014092
56MP0003136_yellow_coat_color1.25763090
57MP0005645_abnormal_hypothalamus_physiol1.25754407
58* MP0003631_nervous_system_phenotype1.22471097
59MP0002876_abnormal_thyroid_physiology1.19986884
60MP0001502_abnormal_circadian_rhythm1.19230796
61MP0003119_abnormal_digestive_system1.18111269
62* MP0002152_abnormal_brain_morphology1.17852616
63MP0006276_abnormal_autonomic_nervous1.17308026
64MP0004742_abnormal_vestibular_system1.15409533
65* MP0004142_abnormal_muscle_tone1.15112591
66MP0000026_abnormal_inner_ear1.13753072
67MP0002928_abnormal_bile_duct1.13579771
68MP0002249_abnormal_larynx_morphology1.13471064
69MP0003172_abnormal_lysosome_physiology1.11817913
70MP0004147_increased_porphyrin_level1.08172243
71MP0001188_hyperpigmentation1.07033307
72MP0002229_neurodegeneration1.04448176
73MP0008961_abnormal_basal_metabolism1.04228815
74MP0001986_abnormal_taste_sensitivity1.03037216
75* MP0003632_abnormal_nervous_system1.01269916
76MP0004134_abnormal_chest_morphology1.00738778
77MP0005253_abnormal_eye_physiology1.00663213
78MP0003122_maternal_imprinting0.99481551
79MP0003690_abnormal_glial_cell0.98504440
80MP0003890_abnormal_embryonic-extraembry0.98074023
81MP0000049_abnormal_middle_ear0.97878867
82MP0005448_abnormal_energy_balance0.92940116
83MP0002069_abnormal_eating/drinking_beha0.92173375
84MP0003938_abnormal_ear_development0.90508208
85MP0004510_myositis0.89986825
86MP0005174_abnormal_tail_pigmentation0.89513320
87MP0003634_abnormal_glial_cell0.87920554
88MP0001348_abnormal_lacrimal_gland0.87821852
89MP0000920_abnormal_myelination0.87407283
90MP0008874_decreased_physiological_sensi0.87307492
91MP0000013_abnormal_adipose_tissue0.86256953
92MP0005389_reproductive_system_phenotype0.83706837
93MP0000751_myopathy0.83174288
94MP0004085_abnormal_heartbeat0.83157847
95MP0005195_abnormal_posterior_eye0.82482529
96MP0001177_atelectasis0.81567058
97MP0005551_abnormal_eye_electrophysiolog0.80702316
98MP0003045_fibrosis0.80436820
99MP0010386_abnormal_urinary_bladder0.80146377
100MP0000604_amyloidosis0.79014969
101MP0004215_abnormal_myocardial_fiber0.78711847
102MP0004043_abnormal_pH_regulation0.77984110
103MP0003137_abnormal_impulse_conducting0.77754074
104MP0001299_abnormal_eye_distance/0.77679289
105MP0001905_abnormal_dopamine_level0.77360432
106* MP0008872_abnormal_physiological_respon0.76438574
107* MP0004145_abnormal_muscle_electrophysio0.75902575
108MP0002638_abnormal_pupillary_reflex0.75852743
109MP0001963_abnormal_hearing_physiology0.74911003
110MP0002938_white_spotting0.74470745
111MP0005535_abnormal_body_temperature0.74273255
112MP0002102_abnormal_ear_morphology0.74018686
113MP0000230_abnormal_systemic_arterial0.71969566
114MP0005167_abnormal_blood-brain_barrier0.71790539
115MP0005670_abnormal_white_adipose0.71790079
116MP0001485_abnormal_pinna_reflex0.71493887
117MP0003075_altered_response_to0.70801540
118MP0002752_abnormal_somatic_nervous0.69449157
119MP0000631_abnormal_neuroendocrine_gland0.65821300
120* MP0010769_abnormal_survival0.65269389
121MP0004484_altered_response_of0.65007278
122MP0004233_abnormal_muscle_weight0.62849376
123MP0006072_abnormal_retinal_apoptosis0.61785261
124* MP0010768_mortality/aging0.61784721
125* MP0002082_postnatal_lethality0.61413505
126* MP0010770_preweaning_lethality0.61413505
127MP0005623_abnormal_meninges_morphology0.60766795
128MP0005394_taste/olfaction_phenotype0.58712955
129MP0005499_abnormal_olfactory_system0.58712955
130* MP0003861_abnormal_nervous_system0.57939901
131MP0001529_abnormal_vocalization0.56659885
132MP0003183_abnormal_peptide_metabolism0.55600250
133MP0002090_abnormal_vision0.54063512

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.25186511
2Myokymia (HP:0002411)6.40750324
3Focal seizures (HP:0007359)6.04136770
4Action tremor (HP:0002345)5.70754738
5* Progressive cerebellar ataxia (HP:0002073)4.98548686
6Febrile seizures (HP:0002373)4.77366211
7Epileptic encephalopathy (HP:0200134)4.71256308
8Atonic seizures (HP:0010819)4.66226813
9* Visual hallucinations (HP:0002367)4.12574309
10Broad-based gait (HP:0002136)4.06577810
11Absence seizures (HP:0002121)4.05235974
12* Gaze-evoked nystagmus (HP:0000640)4.01270259
13Dysdiadochokinesis (HP:0002075)4.00316152
14Congenital stationary night blindness (HP:0007642)3.87931830
15Generalized tonic-clonic seizures (HP:0002069)3.77495157
16Scanning speech (HP:0002168)3.70945268
17Dialeptic seizures (HP:0011146)3.68783936
18Dysmetria (HP:0001310)3.60847637
19Poor eye contact (HP:0000817)3.58937885
20Supranuclear gaze palsy (HP:0000605)3.55035708
21Pancreatic cysts (HP:0001737)3.48458399
22Dysmetric saccades (HP:0000641)3.48392347
23Truncal ataxia (HP:0002078)3.40608857
24Pancreatic fibrosis (HP:0100732)3.39520875
25Impaired social interactions (HP:0000735)3.29680109
26Abnormal social behavior (HP:0012433)3.29680109
27Depression (HP:0000716)3.29086432
28True hermaphroditism (HP:0010459)3.27144072
29Nephronophthisis (HP:0000090)3.26944262
30Intention tremor (HP:0002080)3.26199743
31Abnormality of the lower motor neuron (HP:0002366)3.25605646
32* Impaired smooth pursuit (HP:0007772)3.22898999
33Impaired vibration sensation in the lower limbs (HP:0002166)3.15947566
34Ankle clonus (HP:0011448)3.13481897
35Postural instability (HP:0002172)3.12048237
36Urinary bladder sphincter dysfunction (HP:0002839)3.10138617
37Molar tooth sign on MRI (HP:0002419)3.03645609
38Abnormality of midbrain morphology (HP:0002418)3.03645609
39Mutism (HP:0002300)3.01503542
40* Abnormality of ocular smooth pursuit (HP:0000617)3.00233123
41Cystic liver disease (HP:0006706)2.99734467
42Status epilepticus (HP:0002133)2.79895338
43Pendular nystagmus (HP:0012043)2.78511593
44Abnormality of the renal medulla (HP:0100957)2.71229220
45Excessive salivation (HP:0003781)2.71029442
46Drooling (HP:0002307)2.71029442
47Abnormal eating behavior (HP:0100738)2.69383558
48Papilledema (HP:0001085)2.65135868
49Spastic gait (HP:0002064)2.63643058
50Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.58378495
51Annular pancreas (HP:0001734)2.56008286
52Decreased central vision (HP:0007663)2.54297406
53Ventricular fibrillation (HP:0001663)2.52896192
54Stereotypic behavior (HP:0000733)2.52542004
55Absent speech (HP:0001344)2.48906271
56Abnormality of the corticospinal tract (HP:0002492)2.48287040
57Clumsiness (HP:0002312)2.47629512
58* Anxiety (HP:0000739)2.47606833
59Abolished electroretinogram (ERG) (HP:0000550)2.47078193
60Amblyopia (HP:0000646)2.46706519
61Postural tremor (HP:0002174)2.46338814
62Chronic hepatic failure (HP:0100626)2.44097141
63Epileptiform EEG discharges (HP:0011182)2.44069198
64Bradykinesia (HP:0002067)2.43977313
65Congenital sensorineural hearing impairment (HP:0008527)2.42165181
66Inability to walk (HP:0002540)2.42092600
67Abnormality of saccadic eye movements (HP:0000570)2.40597109
68Hyperventilation (HP:0002883)2.40304989
69Pointed chin (HP:0000307)2.38467336
70EEG with generalized epileptiform discharges (HP:0011198)2.36985574
71Tetraplegia (HP:0002445)2.35129665
72Urinary urgency (HP:0000012)2.34081039
73Neuronal loss in central nervous system (HP:0002529)2.32450022
74Furrowed tongue (HP:0000221)2.30485581
75Hypsarrhythmia (HP:0002521)2.27766133
76Gait ataxia (HP:0002066)2.27381426
77Progressive inability to walk (HP:0002505)2.26618972
78Sclerocornea (HP:0000647)2.26330851
79Abnormality of the nasal septum (HP:0000419)2.26170547
80Impaired vibratory sensation (HP:0002495)2.25262754
81Morphological abnormality of the middle ear (HP:0008609)2.23879623
82Type II lissencephaly (HP:0007260)2.22548586
83* Hemiplegia (HP:0002301)2.22346171
84Amyotrophic lateral sclerosis (HP:0007354)2.21896865
85Aplasia/Hypoplasia of the tibia (HP:0005772)2.20213739
86Bundle branch block (HP:0011710)2.19306405
87* Hemiparesis (HP:0001269)2.16765505
88Limb ataxia (HP:0002070)2.15755540
89Methylmalonic acidemia (HP:0002912)2.14940772
90Hypoplastic ischia (HP:0003175)2.14401621
91Decreased circulating renin level (HP:0003351)2.13551154
92Keratoconus (HP:0000563)2.13478045
93Increased corneal curvature (HP:0100692)2.13478045
94Attenuation of retinal blood vessels (HP:0007843)2.12516318
95Abnormality of the renal cortex (HP:0011035)2.09196757
96Congenital, generalized hypertrichosis (HP:0004540)2.07051897
97Horizontal nystagmus (HP:0000666)2.06788209
98Aplasia/Hypoplasia of the patella (HP:0006498)2.05783387
99Obstructive sleep apnea (HP:0002870)2.04545570
100Abnormal drinking behavior (HP:0030082)2.04360681
101Polydipsia (HP:0001959)2.04360681
102Insomnia (HP:0100785)2.04139907
103Torticollis (HP:0000473)2.02440383
104Clonus (HP:0002169)2.01144371
105Tubular atrophy (HP:0000092)2.00901170
106Neurofibrillary tangles (HP:0002185)2.00576684
107Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.97764048
108Methylmalonic aciduria (HP:0012120)1.97679398
109* Genetic anticipation (HP:0003743)1.97355898
110Lower limb asymmetry (HP:0100559)1.96846974
111Absent rod-and cone-mediated responses on ERG (HP:0007688)1.96316360
112Focal dystonia (HP:0004373)1.96108358
113Patellar aplasia (HP:0006443)1.96028589
114Lower limb muscle weakness (HP:0007340)1.95594980
115Fetal akinesia sequence (HP:0001989)1.94795770
116Cerebral inclusion bodies (HP:0100314)1.94470300
117Severe visual impairment (HP:0001141)1.94099915
118Abnormality of the ischium (HP:0003174)1.92229121
119Megalencephaly (HP:0001355)1.92199607
120Optic nerve hypoplasia (HP:0000609)1.91950816
121Abnormality of the renal collecting system (HP:0004742)1.91496467
122Abnormality of the pubic bones (HP:0003172)1.91197600
123Aqueductal stenosis (HP:0002410)1.91194354
124Abnormal rod and cone electroretinograms (HP:0008323)1.90593840
125Hamartoma of the eye (HP:0010568)1.89855724
126Inappropriate behavior (HP:0000719)1.89082083
127Morphological abnormality of the pyramidal tract (HP:0002062)1.89045158
128Anencephaly (HP:0002323)1.88948269
129Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)1.87602992
130Short 1st metacarpal (HP:0010034)1.87602992
131Chorioretinal atrophy (HP:0000533)1.86392198
132Spinal canal stenosis (HP:0003416)1.85048428
133Short hallux (HP:0010109)1.83638917
134Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.82329579
135Truncal obesity (HP:0001956)1.81739007
136Abnormal EKG (HP:0003115)1.81725986
137Lower limb amyotrophy (HP:0007210)1.81045056
138Large for gestational age (HP:0001520)1.80465356
139Medial flaring of the eyebrow (HP:0010747)1.80047355
140Termporal pattern (HP:0011008)1.79691775
141Insidious onset (HP:0003587)1.79691775
142Rigidity (HP:0002063)1.79030882
143Aplasia/Hypoplasia of the sternum (HP:0006714)1.78281353
144Neoplasm of the heart (HP:0100544)1.77714523
145Aplasia/Hypoplasia of the spleen (HP:0010451)1.77479990
146Thyroid-stimulating hormone excess (HP:0002925)1.77209635
147Asplenia (HP:0001746)1.77074256
148Limb dystonia (HP:0002451)1.76235067
149Abnormality of salivation (HP:0100755)1.74785829
150Macroorchidism (HP:0000053)1.74383197
151Abnormality of the periventricular white matter (HP:0002518)1.74320870
152Cutaneous finger syndactyly (HP:0010554)1.73023069
153Oligodactyly (hands) (HP:0001180)1.72153580
154Goiter (HP:0000853)1.72065585
155Protruding tongue (HP:0010808)1.71932768
156Abnormality of alanine metabolism (HP:0010916)1.71398773
157Hyperalaninemia (HP:0003348)1.71398773
158Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.71398773
159Aplasia/Hypoplasia of the hallux (HP:0008362)1.71334033
160Generalized myoclonic seizures (HP:0002123)1.70802037
161Bony spicule pigmentary retinopathy (HP:0007737)1.70700308
162Pheochromocytoma (HP:0002666)1.70337060
163Male pseudohermaphroditism (HP:0000037)1.70122782
164* Diplopia (HP:0000651)1.68573365
165* Abnormality of binocular vision (HP:0011514)1.68573365
166Abnormality of the phalanges of the 2nd finger (HP:0009541)1.67653290
167* Incomplete penetrance (HP:0003829)1.65598479
168Slow progression (HP:0003677)1.65484439

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK5.76380682
2NTRK34.85289789
3MAP3K93.84900941
4EPHA43.31800585
5MAP3K43.03177958
6GRK13.01958828
7MARK12.76321483
8DAPK22.67652013
9ADRBK22.56687393
10MINK12.52285132
11PAK62.42374543
12CAMKK12.35008732
13MAP2K72.32607874
14NTRK22.26341135
15CAMKK22.26293748
16BMPR1B2.23294513
17ACVR1B2.00985541
18STK381.98753675
19RIPK41.96233746
20PRKD31.90193611
21MAP2K41.87136609
22RIPK11.83953911
23NTRK11.76624862
24SIK21.73031168
25TLK11.65738845
26KSR21.55828928
27PNCK1.52947663
28TNIK1.52754486
29PRPF4B1.51752571
30CDK51.50470078
31WNK41.42900516
32DAPK11.41943288
33WNK11.39448147
34PRKCG1.31158328
35WNK31.30535389
36CDK191.28906539
37GRK51.27149986
38FES1.25369352
39MAPK131.22073497
40KSR11.21875056
41TYRO31.20570392
42UHMK11.16453796
43CAMK11.16250151
44MAP3K131.14665340
45CASK1.12014889
46CAMK1G1.09423884
47STK111.08154288
48ADRBK11.08049180
49FGFR21.07828219
50ALK1.07555763
51PLK21.06311373
52MAP3K21.05194544
53TAOK31.03369855
54PRKCH1.01488850
55MAP3K121.00031002
56SGK20.97486984
57TAOK10.96957916
58CDC42BPA0.95464885
59SGK4940.95150446
60SGK2230.95150446
61PHKG10.94309425
62PHKG20.94309425
63CAMK1D0.91564570
64MARK20.91155352
65SGK30.90285615
66ERBB20.89361175
67CAMK2A0.87437841
68CDK150.85755253
69SGK10.84966045
70ZAK0.84785189
71RET0.84553999
72CDK180.83922774
73MAP4K20.83741752
74PINK10.79829725
75CAMK2B0.79185154
76PKN10.75897384
77DYRK20.75348887
78CDK11A0.75043162
79CAMK40.74892413
80DYRK1A0.73772369
81STK390.73284125
82CDK140.72292220
83MAPK150.71698457
84NEK20.68104325
85PDK10.67278716
86NUAK10.66319023
87NEK60.65962443
88LATS20.65041971
89RPS6KA30.62428701
90PDPK10.60531281
91LMTK20.59710329
92MKNK20.59592053
93CSNK1G20.58393727
94MAP3K60.56854220
95CAMK2D0.56817701
96SCYL20.56391933
97TNK20.56170345
98MAPK100.55687277
99RPS6KA60.54462516
100PRKAA10.54038642
101PAK30.53874867
102CAMK2G0.53612222
103STK38L0.53576048
104OXSR10.52759746
105FYN0.52290808
106CSNK1A10.51772514
107BMPR20.51544609
108PRKACA0.50446375
109ICK0.48796634
110PTK2B0.47824368
111MAP3K70.46871492
112AKT30.46810631
113MAP2K60.46509752
114PRKCA0.44127173
115PTK20.44032117
116PRKCZ0.43809282
117ARAF0.43416725
118MAP3K10.43163534
119INSRR0.42013977
120PRKCE0.41750164
121TIE10.40643738
122HIPK20.40266375
123PRKG10.39934861
124RAF10.39335262
125PIK3CA0.38810182
126MAPKAPK50.38115542
127CSNK1D0.36419583
128MAP2K10.36369592
129CDC70.35627188
130PRKCB0.34862519
131TGFBR10.34765543
132GRK70.34115945
133PRKD20.33523956
134MAPK80.33391405
135CSNK1E0.33102922
136GSK3B0.33004725
137PRKDC0.31826924
138MUSK0.30605518
139MAPKAPK30.27302735
140CHUK0.26352667

Predicted pathways (KEGG)

RankGene SetZ-score
1* Nicotine addiction_Homo sapiens_hsa050333.73817506
2* Synaptic vesicle cycle_Homo sapiens_hsa047212.94838783
3Long-term potentiation_Homo sapiens_hsa047202.85187160
4Circadian entrainment_Homo sapiens_hsa047132.79463177
5* Glutamatergic synapse_Homo sapiens_hsa047242.78933731
6* Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.64952613
7* GABAergic synapse_Homo sapiens_hsa047272.54813838
8Amphetamine addiction_Homo sapiens_hsa050312.41583101
9Olfactory transduction_Homo sapiens_hsa047402.38533791
10* Morphine addiction_Homo sapiens_hsa050322.35307973
11Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.30722702
12Salivary secretion_Homo sapiens_hsa049702.29595198
13Insulin secretion_Homo sapiens_hsa049112.18623767
14Aldosterone synthesis and secretion_Homo sapiens_hsa049252.02046186
15* Dopaminergic synapse_Homo sapiens_hsa047281.98703839
16Gastric acid secretion_Homo sapiens_hsa049711.97605095
17* Long-term depression_Homo sapiens_hsa047301.89626609
18* Taste transduction_Homo sapiens_hsa047421.87943283
19Maturity onset diabetes of the young_Homo sapiens_hsa049501.83084125
20* Cholinergic synapse_Homo sapiens_hsa047251.81174602
21Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.71804415
22Oxytocin signaling pathway_Homo sapiens_hsa049211.65422116
23* Calcium signaling pathway_Homo sapiens_hsa040201.58254740
24Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.55369169
25Cocaine addiction_Homo sapiens_hsa050301.53884010
26* Type II diabetes mellitus_Homo sapiens_hsa049301.51979009
27Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.51525544
28Renin secretion_Homo sapiens_hsa049241.50640412
29Phosphatidylinositol signaling system_Homo sapiens_hsa040701.50429458
30GnRH signaling pathway_Homo sapiens_hsa049121.49086424
31Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.48963395
32Linoleic acid metabolism_Homo sapiens_hsa005911.45084659
33* Serotonergic synapse_Homo sapiens_hsa047261.41731625
34cAMP signaling pathway_Homo sapiens_hsa040241.39149967
35Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.37507389
36Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.32866794
37alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.30919820
38Estrogen signaling pathway_Homo sapiens_hsa049151.30723901
39Gap junction_Homo sapiens_hsa045401.30560866
40Tryptophan metabolism_Homo sapiens_hsa003801.29099734
41Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.24882186
42Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.19435456
43Pancreatic secretion_Homo sapiens_hsa049721.18349840
44Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.17636291
45Butanoate metabolism_Homo sapiens_hsa006501.11228411
46cGMP-PKG signaling pathway_Homo sapiens_hsa040221.10546670
47Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.06217557
48Glioma_Homo sapiens_hsa052141.04497819
49Phospholipase D signaling pathway_Homo sapiens_hsa040721.01391466
50Carbohydrate digestion and absorption_Homo sapiens_hsa049731.00516368
51ErbB signaling pathway_Homo sapiens_hsa040120.99393243
52Melanogenesis_Homo sapiens_hsa049160.98715944
53Thyroid hormone synthesis_Homo sapiens_hsa049180.98707582
54Collecting duct acid secretion_Homo sapiens_hsa049660.96432734
55ABC transporters_Homo sapiens_hsa020100.95794133
56Glycerolipid metabolism_Homo sapiens_hsa005610.94929292
57Oxidative phosphorylation_Homo sapiens_hsa001900.93712456
58Ether lipid metabolism_Homo sapiens_hsa005650.93052438
59Axon guidance_Homo sapiens_hsa043600.92238863
60Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.91502693
61Vascular smooth muscle contraction_Homo sapiens_hsa042700.91124462
62Dorso-ventral axis formation_Homo sapiens_hsa043200.87449479
63Oocyte meiosis_Homo sapiens_hsa041140.82880432
64Choline metabolism in cancer_Homo sapiens_hsa052310.82722285
65Cardiac muscle contraction_Homo sapiens_hsa042600.81421229
66Histidine metabolism_Homo sapiens_hsa003400.81253946
67Dilated cardiomyopathy_Homo sapiens_hsa054140.80625590
68Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.80603868
69Inositol phosphate metabolism_Homo sapiens_hsa005620.79787973
70Alzheimers disease_Homo sapiens_hsa050100.77981406
71Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.77481236
72Nitrogen metabolism_Homo sapiens_hsa009100.77456750
73Chemical carcinogenesis_Homo sapiens_hsa052040.77195241
74Neurotrophin signaling pathway_Homo sapiens_hsa047220.72328118
75* MAPK signaling pathway_Homo sapiens_hsa040100.71911008
76Selenocompound metabolism_Homo sapiens_hsa004500.71117620
77Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.69986167
78Steroid hormone biosynthesis_Homo sapiens_hsa001400.69376167
79mTOR signaling pathway_Homo sapiens_hsa041500.68041179
80Thyroid hormone signaling pathway_Homo sapiens_hsa049190.67154542
81Homologous recombination_Homo sapiens_hsa034400.66962128
82Basal cell carcinoma_Homo sapiens_hsa052170.65976461
83Hedgehog signaling pathway_Homo sapiens_hsa043400.65143074
84Bile secretion_Homo sapiens_hsa049760.63172066
85Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.62356305
86Melanoma_Homo sapiens_hsa052180.60893530
87Longevity regulating pathway - mammal_Homo sapiens_hsa042110.60039205
88VEGF signaling pathway_Homo sapiens_hsa043700.59339672
89Parkinsons disease_Homo sapiens_hsa050120.58903247
90Vibrio cholerae infection_Homo sapiens_hsa051100.58614831
91Circadian rhythm_Homo sapiens_hsa047100.57609806
92Glucagon signaling pathway_Homo sapiens_hsa049220.57582849
93Rap1 signaling pathway_Homo sapiens_hsa040150.56726911
94Sphingolipid signaling pathway_Homo sapiens_hsa040710.55105325
95Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.54626059
96Retinol metabolism_Homo sapiens_hsa008300.53252623
97Caffeine metabolism_Homo sapiens_hsa002320.53067705
98Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.51536656
99Ras signaling pathway_Homo sapiens_hsa040140.51154492
100Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.50838995
101Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.50171764
102Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.49686724
103Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.48917991
104Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.47644101
105Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.47521829
106Type I diabetes mellitus_Homo sapiens_hsa049400.47378539
107Endocytosis_Homo sapiens_hsa041440.45496093
108Huntingtons disease_Homo sapiens_hsa050160.45196634
109Phototransduction_Homo sapiens_hsa047440.44436886
110Alcoholism_Homo sapiens_hsa050340.42401670
111beta-Alanine metabolism_Homo sapiens_hsa004100.42297184
112Fatty acid biosynthesis_Homo sapiens_hsa000610.42152534
113Intestinal immune network for IgA production_Homo sapiens_hsa046720.42102489
114Wnt signaling pathway_Homo sapiens_hsa043100.42050490
115Endometrial cancer_Homo sapiens_hsa052130.41265545
116Insulin signaling pathway_Homo sapiens_hsa049100.40734126
117Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.40502234
118Fanconi anemia pathway_Homo sapiens_hsa034600.38791323
119Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.38730412
120Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.38681373
121Chemokine signaling pathway_Homo sapiens_hsa040620.38444181
122Ovarian steroidogenesis_Homo sapiens_hsa049130.38231963
123Hippo signaling pathway_Homo sapiens_hsa043900.37970432
124Non-small cell lung cancer_Homo sapiens_hsa052230.37424245
125Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.37068163
126Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.36557166
127Renal cell carcinoma_Homo sapiens_hsa052110.34566164
128Lysine degradation_Homo sapiens_hsa003100.33755319
129Vitamin digestion and absorption_Homo sapiens_hsa049770.32770053
130Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.31625335
131African trypanosomiasis_Homo sapiens_hsa051430.30699529
132Platelet activation_Homo sapiens_hsa046110.30233375
133Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.29955622
134Glycerophospholipid metabolism_Homo sapiens_hsa005640.29827542
135Mineral absorption_Homo sapiens_hsa049780.28683983
136Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.27773370
137Prolactin signaling pathway_Homo sapiens_hsa049170.27720481
138Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.24661475

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