GDAP1L1

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: The ganglioside GD3 synthase causes cell differentiation with neurite sprouting when transfected into the mouse neuroblastoma cell line Neuro2a. After differentiation, the expression of several genes is upregulated, including one that encodes a protein termed ganglioside-induced differentiation-associated protein 1 (Gdap1). A similar gene was found in humans, and mutations in the human gene are associated with Charcot-Marie-Tooth type 4A disease. The protein encoded by this gene is similar in sequence to the human GDAP1 protein. Several transcript variants encoding different isoforms, as well as a noncoding transcript variant, have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1establishment of mitochondrion localization (GO:0051654)5.71222080
2behavioral response to nicotine (GO:0035095)5.57444281
3regulation of short-term neuronal synaptic plasticity (GO:0048172)5.45065329
4synaptic vesicle exocytosis (GO:0016079)5.20256852
5positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.16207870
6neuron cell-cell adhesion (GO:0007158)5.05073743
7synaptic vesicle maturation (GO:0016188)5.01135954
8regulation of synaptic vesicle exocytosis (GO:2000300)4.98228460
9vocalization behavior (GO:0071625)4.96299591
10regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.77583051
11protein localization to synapse (GO:0035418)4.69750109
12glutamate secretion (GO:0014047)4.46174066
13positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.45404640
14regulation of synaptic vesicle transport (GO:1902803)4.39238183
15regulation of glutamate receptor signaling pathway (GO:1900449)4.35154598
16mitochondrion transport along microtubule (GO:0047497)4.30146260
17establishment of mitochondrion localization, microtubule-mediated (GO:0034643)4.30146260
18locomotory exploration behavior (GO:0035641)4.27205945
19neurofilament cytoskeleton organization (GO:0060052)4.24764919
20pyrimidine nucleobase catabolic process (GO:0006208)4.18007779
21neurotransmitter secretion (GO:0007269)4.11735107
22ionotropic glutamate receptor signaling pathway (GO:0035235)3.99846428
23synaptic vesicle docking involved in exocytosis (GO:0016081)3.97697870
24layer formation in cerebral cortex (GO:0021819)3.97374286
25neuron recognition (GO:0008038)3.96594956
26cell migration in hindbrain (GO:0021535)3.94418783
27neuronal action potential propagation (GO:0019227)3.93382240
28exploration behavior (GO:0035640)3.90736099
29regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.80916128
30synaptic transmission, glutamatergic (GO:0035249)3.79543061
31response to pheromone (GO:0019236)3.71034899
32negative regulation of microtubule polymerization (GO:0031115)3.71031814
33postsynaptic membrane organization (GO:0001941)3.70948622
34regulation of synapse structural plasticity (GO:0051823)3.70395603
35regulation of neuronal synaptic plasticity (GO:0048168)3.69585758
36regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.65998478
37axonal fasciculation (GO:0007413)3.65402068
38glutamate receptor signaling pathway (GO:0007215)3.63755808
39neuron-neuron synaptic transmission (GO:0007270)3.62533967
40substrate-independent telencephalic tangential interneuron migration (GO:0021843)3.58389453
41substrate-independent telencephalic tangential migration (GO:0021826)3.58389453
42dendritic spine morphogenesis (GO:0060997)3.57514401
43positive regulation of synapse maturation (GO:0090129)3.53765487
44proline transport (GO:0015824)3.50976069
45regulation of long-term neuronal synaptic plasticity (GO:0048169)3.47367828
46neurotransmitter-gated ion channel clustering (GO:0072578)3.43470585
47adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)3.38719891
48regulation of vesicle fusion (GO:0031338)3.37647369
49dendrite morphogenesis (GO:0048813)3.37284438
50regulation of neurotransmitter secretion (GO:0046928)3.34794403
51neurotransmitter transport (GO:0006836)3.33813146
52positive regulation of synaptic transmission, GABAergic (GO:0032230)3.31817772
53axon extension (GO:0048675)3.31047463
54synapse assembly (GO:0007416)3.30837662
55synaptic vesicle endocytosis (GO:0048488)3.30172064
56presynaptic membrane assembly (GO:0097105)3.29253011
57nucleobase catabolic process (GO:0046113)3.28294920
58cerebellar Purkinje cell differentiation (GO:0021702)3.27688183
59positive regulation of membrane potential (GO:0045838)3.25232064
60membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.24292479
61regulation of excitatory postsynaptic membrane potential (GO:0060079)3.22821385
62innervation (GO:0060384)3.22310861
63forebrain neuron differentiation (GO:0021879)3.19340718
64regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.19072522
65synaptic transmission, cholinergic (GO:0007271)3.18813856
66presynaptic membrane organization (GO:0097090)3.18716388
67cerebral cortex radially oriented cell migration (GO:0021799)3.18029993
68neuronal ion channel clustering (GO:0045161)3.17501773
69regulation of postsynaptic membrane potential (GO:0060078)3.16237661
70retinal ganglion cell axon guidance (GO:0031290)3.13450845
71transmission of nerve impulse (GO:0019226)3.12971720
72long-term memory (GO:0007616)3.10238881
73positive regulation of synapse assembly (GO:0051965)3.09747300
74activation of protein kinase A activity (GO:0034199)3.09059693
75gamma-aminobutyric acid transport (GO:0015812)3.08301699
76regulation of neurotransmitter transport (GO:0051588)3.04877830
77mechanosensory behavior (GO:0007638)3.02720465
78long-term synaptic potentiation (GO:0060291)3.02494472
79regulation of neurotransmitter levels (GO:0001505)3.02370522
80sequestering of actin monomers (GO:0042989)3.01033641
81auditory behavior (GO:0031223)3.00127004
82membrane depolarization during action potential (GO:0086010)2.99202306
83negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.98697954
84positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.98343653
85regulation of synaptic plasticity (GO:0048167)2.98013736
86regulation of synaptic transmission, glutamatergic (GO:0051966)2.96720271
87gamma-aminobutyric acid signaling pathway (GO:0007214)2.96714826
88adult walking behavior (GO:0007628)2.94109176
89detection of calcium ion (GO:0005513)2.93660146
90negative regulation of synaptic transmission, GABAergic (GO:0032229)2.93494423
91establishment of synaptic vesicle localization (GO:0097480)2.93436912
92synaptic vesicle transport (GO:0048489)2.93436912
93regulation of respiratory system process (GO:0044065)2.93223382
94spinal cord association neuron differentiation (GO:0021527)2.91855245
95central nervous system projection neuron axonogenesis (GO:0021952)2.91285504
96membrane hyperpolarization (GO:0060081)2.91006731
97membrane depolarization (GO:0051899)2.90433556
98cerebellum development (GO:0021549)2.90058774
99mating behavior (GO:0007617)2.88427575
100G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.88290301
101hippocampus development (GO:0021766)2.88279434
102positive regulation of dendritic spine morphogenesis (GO:0061003)2.87953553
103response to auditory stimulus (GO:0010996)2.87634223
104neuromuscular process controlling posture (GO:0050884)2.87295666
105neuromuscular synaptic transmission (GO:0007274)2.86265073
106spinal cord development (GO:0021510)2.85625047
107regulation of feeding behavior (GO:0060259)2.84951581
108regulation of synapse maturation (GO:0090128)2.84778647
109positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.83856370
110synapse organization (GO:0050808)2.83659754
111regulation of synapse assembly (GO:0051963)2.82796457
112regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.82727072
113establishment of vesicle localization (GO:0051650)2.82145195
114neuron projection extension (GO:1990138)2.81984558
115cerebellar Purkinje cell layer development (GO:0021680)2.81579116
116synaptic transmission (GO:0007268)2.81015676
117protein localization to cilium (GO:0061512)2.80698483
118glycosphingolipid biosynthetic process (GO:0006688)2.80545706
119calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339)2.80229261
120learning (GO:0007612)2.79940522
121positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.79595721
122dendrite development (GO:0016358)2.79583275
123cell communication by electrical coupling (GO:0010644)2.77733362
124intraspecies interaction between organisms (GO:0051703)2.77455466
125social behavior (GO:0035176)2.77455466
126cerebellar granule cell differentiation (GO:0021707)2.77335369
127negative regulation of axonogenesis (GO:0050771)2.75980376
128nonmotile primary cilium assembly (GO:0035058)2.72334190
129nervous system development (GO:0007399)2.72207847
130positive regulation of mitochondrial fission (GO:0090141)2.72022381
131cell differentiation in hindbrain (GO:0021533)2.71532011
132negative regulation of axon extension (GO:0030517)2.68780061
133limb bud formation (GO:0060174)2.68347800
134regulation of action potential (GO:0098900)2.65409515
135neuron migration (GO:0001764)2.64724842
136behavioral defense response (GO:0002209)2.63401915
137behavioral fear response (GO:0001662)2.63401915

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.51790533
2GBX2_23144817_ChIP-Seq_PC3_Human3.62310549
3TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat3.22467326
4SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.08277935
5JARID2_20064375_ChIP-Seq_MESCs_Mouse3.03208310
6* REST_21632747_ChIP-Seq_MESCs_Mouse2.98672297
7SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.90680179
8NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.79561294
9EZH2_27304074_Chip-Seq_ESCs_Mouse2.77115123
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.76724402
11EZH2_18974828_ChIP-Seq_MESCs_Mouse2.62818040
12RNF2_18974828_ChIP-Seq_MESCs_Mouse2.62818040
13CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.55130113
14SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.51293049
15SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.50343049
16SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.48484170
17SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.47876412
18* REST_18959480_ChIP-ChIP_MESCs_Mouse2.45177615
19EZH2_27294783_Chip-Seq_ESCs_Mouse2.43340845
20SUZ12_27294783_Chip-Seq_ESCs_Mouse2.40382960
21EED_16625203_ChIP-ChIP_MESCs_Mouse2.34090768
22MTF2_20144788_ChIP-Seq_MESCs_Mouse2.33698312
23RARB_27405468_Chip-Seq_BRAIN_Mouse2.24159383
24GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.20059386
25RNF2_27304074_Chip-Seq_ESCs_Mouse2.18865674
26DROSHA_22980978_ChIP-Seq_HELA_Human2.12055461
27HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.10364571
28TAF15_26573619_Chip-Seq_HEK293_Human1.96273458
29BMI1_23680149_ChIP-Seq_NPCS_Mouse1.92559613
30CTBP2_25329375_ChIP-Seq_LNCAP_Human1.91687213
31IKZF1_21737484_ChIP-ChIP_HCT116_Human1.87000602
32CTBP1_25329375_ChIP-Seq_LNCAP_Human1.73165301
33TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.72682423
34CBX2_27304074_Chip-Seq_ESCs_Mouse1.69683033
35E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.62498868
36EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.62238177
37PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.61631406
38MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.61398159
39ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.59960673
40ZFP57_27257070_Chip-Seq_ESCs_Mouse1.57900540
41ZNF274_21170338_ChIP-Seq_K562_Hela1.57870982
42IGF1R_20145208_ChIP-Seq_DFB_Human1.55158093
43RNF2_27304074_Chip-Seq_NSC_Mouse1.52689602
44* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.51482115
45SMAD4_21799915_ChIP-Seq_A2780_Human1.49214115
46ERG_21242973_ChIP-ChIP_JURKAT_Human1.46024899
47P300_19829295_ChIP-Seq_ESCs_Human1.38702196
48RING1B_27294783_Chip-Seq_ESCs_Mouse1.38247743
49AR_21572438_ChIP-Seq_LNCaP_Human1.37392070
50RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.35941804
51SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.35724086
52* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.32823648
53NR3C1_23031785_ChIP-Seq_PC12_Mouse1.32009215
54TOP2B_26459242_ChIP-Seq_MCF-7_Human1.28885943
55SOX2_21211035_ChIP-Seq_LN229_Gbm1.24847184
56SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.22667699
57SMAD3_21741376_ChIP-Seq_EPCs_Human1.21415293
58* OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.19104173
59FUS_26573619_Chip-Seq_HEK293_Human1.18943344
60RING1B_27294783_Chip-Seq_NPCs_Mouse1.18763991
61GATA1_26923725_Chip-Seq_HPCs_Mouse1.17493973
62VDR_22108803_ChIP-Seq_LS180_Human1.16624413
63CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.15926636
64OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.13108741
65* AR_25329375_ChIP-Seq_VCAP_Human1.11281841
66CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.10766389
67POU3F2_20337985_ChIP-ChIP_501MEL_Human1.10080178
68STAT3_23295773_ChIP-Seq_U87_Human1.10059995
69* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.09407649
70AR_19668381_ChIP-Seq_PC3_Human1.09269052
71PIAS1_25552417_ChIP-Seq_VCAP_Human1.08172785
72TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.07853847
73DNAJC2_21179169_ChIP-ChIP_NT2_Human1.07237098
74SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.06511331
75CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.06172974
76P53_22127205_ChIP-Seq_FIBROBLAST_Human1.05111738
77RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.03561422
78ETV2_25802403_ChIP-Seq_MESCs_Mouse1.03175628
79GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.02077561
80HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human0.99746082
81MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.99633495
82MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.99412098
83RUNX2_22187159_ChIP-Seq_PCA_Human0.98921478
84YAP1_20516196_ChIP-Seq_MESCs_Mouse0.98867971
85MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.97884387
86SMAD3_21741376_ChIP-Seq_ESCs_Human0.97659116
87KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.96988162
88POU5F1_16153702_ChIP-ChIP_HESCs_Human0.96803892
89ARNT_22903824_ChIP-Seq_MCF-7_Human0.96760179
90POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.94636444
91TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.94636444
92TP53_22573176_ChIP-Seq_HFKS_Human0.93710094
93TCF4_23295773_ChIP-Seq_U87_Human0.93285392
94AHR_22903824_ChIP-Seq_MCF-7_Human0.91250338
95TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.90193808
96IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.89963397
97CBP_20019798_ChIP-Seq_JUKART_Human0.89963397
98ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.89719833
99NR3C1_21868756_ChIP-Seq_MCF10A_Human0.89493508
100WT1_25993318_ChIP-Seq_PODOCYTE_Human0.89409604
101* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.88621355
102JUN_21703547_ChIP-Seq_K562_Human0.88314201
103RBPJ_22232070_ChIP-Seq_NCS_Mouse0.88133422
104KLF5_20875108_ChIP-Seq_MESCs_Mouse0.87613777
105IRF1_19129219_ChIP-ChIP_H3396_Human0.87579275
106PRDM14_20953172_ChIP-Seq_ESCs_Human0.86399154
107SMAD4_21741376_ChIP-Seq_HESCs_Human0.85955372
108TP53_20018659_ChIP-ChIP_R1E_Mouse0.85927262
109UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.85093762
110EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.84647323
111* FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.84628801
112KDM2B_26808549_Chip-Seq_K562_Human0.84415183
113GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.84135805
114CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.83706978
115AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.82901314
116TET1_21490601_ChIP-Seq_MESCs_Mouse0.82662093
117CTCF_27219007_Chip-Seq_Bcells_Human0.82275387

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity4.90326696
2MP0003880_abnormal_central_pattern3.93846640
3MP0003635_abnormal_synaptic_transmissio3.55364523
4MP0004270_analgesia3.54572145
5MP0002063_abnormal_learning/memory/cond2.95281903
6MP0001968_abnormal_touch/_nociception2.86123138
7MP0005423_abnormal_somatic_nervous2.85148683
8MP0006276_abnormal_autonomic_nervous2.83500454
9MP0009745_abnormal_behavioral_response2.78876602
10MP0002734_abnormal_mechanical_nocicepti2.77224538
11MP0002064_seizures2.63505787
12MP0009046_muscle_twitch2.55027554
13MP0002572_abnormal_emotion/affect_behav2.53429487
14MP0005645_abnormal_hypothalamus_physiol2.48260459
15MP0002735_abnormal_chemical_nociception2.47847878
16MP0002184_abnormal_innervation2.33592143
17MP0002272_abnormal_nervous_system2.31672224
18MP0002736_abnormal_nociception_after2.30708370
19MP0002733_abnormal_thermal_nociception2.28470283
20MP0000778_abnormal_nervous_system2.22500277
21MP0001486_abnormal_startle_reflex2.17075132
22MP0003122_maternal_imprinting2.06733161
23MP0001970_abnormal_pain_threshold2.04870132
24MP0001984_abnormal_olfaction2.00607006
25MP0001440_abnormal_grooming_behavior1.94360923
26MP0002067_abnormal_sensory_capabilities1.93318787
27MP0002557_abnormal_social/conspecific_i1.92448550
28MP0002822_catalepsy1.91547227
29MP0002909_abnormal_adrenal_gland1.85274389
30MP0004811_abnormal_neuron_physiology1.83710198
31MP0004858_abnormal_nervous_system1.81740832
32MP0010386_abnormal_urinary_bladder1.81220172
33MP0001501_abnormal_sleep_pattern1.75311388
34MP0003787_abnormal_imprinting1.75128905
35MP0005646_abnormal_pituitary_gland1.73371152
36MP0003123_paternal_imprinting1.70862559
37MP0000955_abnormal_spinal_cord1.70180488
38MP0005394_taste/olfaction_phenotype1.69153875
39MP0005499_abnormal_olfactory_system1.69153875
40MP0002638_abnormal_pupillary_reflex1.68006636
41MP0001529_abnormal_vocalization1.65938280
42MP0009780_abnormal_chondrocyte_physiolo1.62885013
43MP0005386_behavior/neurological_phenoty1.62372333
44MP0004924_abnormal_behavior1.62372333
45MP0002882_abnormal_neuron_morphology1.56019506
46MP0008569_lethality_at_weaning1.49967416
47MP0001502_abnormal_circadian_rhythm1.49402741
48MP0008877_abnormal_DNA_methylation1.44143781
49MP0001905_abnormal_dopamine_level1.39993202
50MP0001188_hyperpigmentation1.39840991
51MP0008789_abnormal_olfactory_epithelium1.39180675
52MP0003329_amyloid_beta_deposits1.38611884
53MP0004142_abnormal_muscle_tone1.37764359
54MP0003879_abnormal_hair_cell1.36684235
55MP0002066_abnormal_motor_capabilities/c1.34208678
56MP0003890_abnormal_embryonic-extraembry1.31020880
57MP0004133_heterotaxia1.29662338
58MP0000631_abnormal_neuroendocrine_gland1.23987118
59MP0002751_abnormal_autonomic_nervous1.20517008
60MP0002152_abnormal_brain_morphology1.19968925
61MP0008995_early_reproductive_senescence1.18888542
62MP0006292_abnormal_olfactory_placode1.15923715
63MP0003183_abnormal_peptide_metabolism1.13903619
64MP0004885_abnormal_endolymph1.13765887
65MP0006072_abnormal_retinal_apoptosis1.12487565
66MP0000049_abnormal_middle_ear1.10105713
67MP0000013_abnormal_adipose_tissue1.07875524
68MP0005551_abnormal_eye_electrophysiolog1.07386193
69MP0002752_abnormal_somatic_nervous1.05229153
70MP0002653_abnormal_ependyma_morphology1.04829799
71MP0002069_abnormal_eating/drinking_beha1.02023638
72MP0002837_dystrophic_cardiac_calcinosis1.01900127
73MP0002229_neurodegeneration0.99220155
74MP0008961_abnormal_basal_metabolism0.98229372
75MP0003011_delayed_dark_adaptation0.97517871
76MP0004742_abnormal_vestibular_system0.97070091
77MP0000569_abnormal_digit_pigmentation0.96365791
78MP0001986_abnormal_taste_sensitivity0.91958259
79MP0003633_abnormal_nervous_system0.91395426
80MP0003121_genomic_imprinting0.90774798
81MP0003938_abnormal_ear_development0.90711540
82MP0002876_abnormal_thyroid_physiology0.87243858
83MP0003283_abnormal_digestive_organ0.87110327
84MP0001963_abnormal_hearing_physiology0.86052988
85MP0000751_myopathy0.84612155
86MP0003861_abnormal_nervous_system0.83862493
87MP0005195_abnormal_posterior_eye0.82028535
88MP0003631_nervous_system_phenotype0.80422707
89MP0003634_abnormal_glial_cell0.80185107
90MP0004145_abnormal_muscle_electrophysio0.77701442
91MP0004085_abnormal_heartbeat0.77647471
92MP0003119_abnormal_digestive_system0.75148861
93MP0004043_abnormal_pH_regulation0.73176224
94MP0005535_abnormal_body_temperature0.73132557
95MP0005253_abnormal_eye_physiology0.73041328
96MP0002938_white_spotting0.72128583
97MP0002928_abnormal_bile_duct0.72065799
98MP0004130_abnormal_muscle_cell0.71920846
99MP0000566_synostosis0.71622400
100MP0000026_abnormal_inner_ear0.70618596
101MP0001485_abnormal_pinna_reflex0.69658341
102MP0002160_abnormal_reproductive_system0.69083225
103MP0001664_abnormal_digestion0.68606540
104MP0005084_abnormal_gallbladder_morpholo0.68069279
105MP0005187_abnormal_penis_morphology0.67487822
106MP0003137_abnormal_impulse_conducting0.66616668
107MP0001299_abnormal_eye_distance/0.66599853
108MP0004147_increased_porphyrin_level0.66005278
109MP0002081_perinatal_lethality0.65490002
110MP0008872_abnormal_physiological_respon0.64644682
111MP0003136_yellow_coat_color0.64640303
112MP0009379_abnormal_foot_pigmentation0.64469739
113MP0002234_abnormal_pharynx_morphology0.64439998
114MP0000538_abnormal_urinary_bladder0.63544265
115MP0002102_abnormal_ear_morphology0.61110959
116MP0001944_abnormal_pancreas_morphology0.59221460
117MP0001943_abnormal_respiration0.58425495
118MP0002082_postnatal_lethality0.56059857
119MP0010770_preweaning_lethality0.56059857
120MP0002693_abnormal_pancreas_physiology0.55832107

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)5.61359895
2Myokymia (HP:0002411)5.58043401
3Focal seizures (HP:0007359)4.65320903
4Visual hallucinations (HP:0002367)4.55532290
5Atonic seizures (HP:0010819)4.49975171
6Epileptic encephalopathy (HP:0200134)4.18451770
7Febrile seizures (HP:0002373)4.13272992
8Progressive cerebellar ataxia (HP:0002073)3.86419442
9Absence seizures (HP:0002121)3.76141619
10Limb dystonia (HP:0002451)3.51909109
11Dialeptic seizures (HP:0011146)3.32180485
12Amblyopia (HP:0000646)3.26775805
13Failure to thrive in infancy (HP:0001531)3.21187319
14Pachygyria (HP:0001302)3.16343751
15Generalized tonic-clonic seizures (HP:0002069)3.15591203
16Supranuclear gaze palsy (HP:0000605)3.14846935
17Cortical dysplasia (HP:0002539)3.14031214
18Ankle clonus (HP:0011448)3.12378395
19Pheochromocytoma (HP:0002666)3.05968023
20Polyphagia (HP:0002591)3.04940923
21Agitation (HP:0000713)3.02337087
22Action tremor (HP:0002345)2.97696248
23Abnormal eating behavior (HP:0100738)2.91984140
24Broad-based gait (HP:0002136)2.88509592
25Epileptiform EEG discharges (HP:0011182)2.86642998
26Hepatoblastoma (HP:0002884)2.86566524
27EEG with generalized epileptiform discharges (HP:0011198)2.83039055
28Gait imbalance (HP:0002141)2.82598707
29Truncal ataxia (HP:0002078)2.79936993
30Depression (HP:0000716)2.74772366
31Hyperventilation (HP:0002883)2.71990807
32Hypsarrhythmia (HP:0002521)2.71334926
33Anxiety (HP:0000739)2.67899029
34Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.62878625
35Drooling (HP:0002307)2.62399387
36Excessive salivation (HP:0003781)2.62399387
37Neuroendocrine neoplasm (HP:0100634)2.62357643
38Poor eye contact (HP:0000817)2.53068508
39Nephronophthisis (HP:0000090)2.52455759
40Impaired vibration sensation in the lower limbs (HP:0002166)2.51362686
41Abnormality of midbrain morphology (HP:0002418)2.49698038
42Molar tooth sign on MRI (HP:0002419)2.49698038
43Spastic tetraplegia (HP:0002510)2.49370847
44Mutism (HP:0002300)2.48686097
45Abnormal hair whorl (HP:0010721)2.47289930
46Progressive inability to walk (HP:0002505)2.47113736
47Hemiparesis (HP:0001269)2.37132793
48Specific learning disability (HP:0001328)2.35093224
49Spastic gait (HP:0002064)2.33862566
50Hypothermia (HP:0002045)2.33752368
51Hypoventilation (HP:0002791)2.31288110
52Pancreatic fibrosis (HP:0100732)2.30651207
53Urinary bladder sphincter dysfunction (HP:0002839)2.30053826
54Congenital primary aphakia (HP:0007707)2.28822931
55True hermaphroditism (HP:0010459)2.27520856
56Gaze-evoked nystagmus (HP:0000640)2.26411915
57Medial flaring of the eyebrow (HP:0010747)2.25294339
58Papilledema (HP:0001085)2.24788930
59Abnormal social behavior (HP:0012433)2.23623345
60Impaired social interactions (HP:0000735)2.23623345
61Abnormality of the lower motor neuron (HP:0002366)2.23070523
62Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.21461491
63Degeneration of the lateral corticospinal tracts (HP:0002314)2.21461491
64Type II lissencephaly (HP:0007260)2.20530687
65Hypoplasia of the brainstem (HP:0002365)2.20486855
66Aplasia/Hypoplasia of the brainstem (HP:0007362)2.20486855
67Pancreatic cysts (HP:0001737)2.19713756
68Dysdiadochokinesis (HP:0002075)2.19677158
69Nephrogenic diabetes insipidus (HP:0009806)2.18958269
70Poor suck (HP:0002033)2.18805453
71Genetic anticipation (HP:0003743)2.18525425
72Pendular nystagmus (HP:0012043)2.16911827
73Urinary urgency (HP:0000012)2.16314401
74Abnormality of the corticospinal tract (HP:0002492)2.14090929
75Hypoplasia of the corpus callosum (HP:0002079)2.13720299
76Insidious onset (HP:0003587)2.13537938
77Termporal pattern (HP:0011008)2.13537938
78Morphological abnormality of the pyramidal tract (HP:0002062)2.10502966
79Esotropia (HP:0000565)2.09886870
80Poor coordination (HP:0002370)2.08781268
81Dysmetria (HP:0001310)2.06613663
82Torticollis (HP:0000473)2.05893422
83Absent speech (HP:0001344)2.05741421
84Impaired smooth pursuit (HP:0007772)2.05172402
85Amyotrophic lateral sclerosis (HP:0007354)2.04623010
86Lissencephaly (HP:0001339)2.04085137
87Hyperthyroidism (HP:0000836)2.03830863
88Sleep apnea (HP:0010535)2.02836748
89Abnormality of calcium-phosphate metabolism (HP:0100530)2.02267508
90Stereotypic behavior (HP:0000733)2.00533740
91Megalencephaly (HP:0001355)2.00472893
92Focal dystonia (HP:0004373)2.00395516
93Abnormality of the labia minora (HP:0012880)1.97040962
94Protruding tongue (HP:0010808)1.96616625
95Chronic hepatic failure (HP:0100626)1.96412353
96Scanning speech (HP:0002168)1.96138524
97Narrow forehead (HP:0000341)1.95566827
98Genital tract atresia (HP:0001827)1.95321158
99Lower limb muscle weakness (HP:0007340)1.94958259
100Vaginal atresia (HP:0000148)1.94873146
101Fetal akinesia sequence (HP:0001989)1.94455976
102Anosmia (HP:0000458)1.93912843
103Status epilepticus (HP:0002133)1.93764162
104Exotropia (HP:0000577)1.92768381
105Inability to walk (HP:0002540)1.90120078
106Hip dysplasia (HP:0001385)1.90067266
107Labial hypoplasia (HP:0000066)1.89262963
108Oligomenorrhea (HP:0000876)1.88998191
109Retinal dysplasia (HP:0007973)1.88681736
110Bradykinesia (HP:0002067)1.87530160
111Abnormality of the renal medulla (HP:0100957)1.86608204
112Polymicrogyria (HP:0002126)1.86490072
113Anencephaly (HP:0002323)1.86170757
114Peripheral hypomyelination (HP:0007182)1.85704414
115Neurofibrillary tangles (HP:0002185)1.85040966
116Shoulder girdle muscle weakness (HP:0003547)1.84378444
117Shawl scrotum (HP:0000049)1.83417089
118Cerebral inclusion bodies (HP:0100314)1.82259267
119Thyroid-stimulating hormone excess (HP:0002925)1.81945162
120Abnormality of alanine metabolism (HP:0010916)1.81921215
121Hyperalaninemia (HP:0003348)1.81921215
122Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.81921215
123Abnormality of pain sensation (HP:0010832)1.80844551
124Impaired pain sensation (HP:0007328)1.80844551
125Insomnia (HP:0100785)1.80803233
126Congenital stationary night blindness (HP:0007642)1.80057368
127Psychosis (HP:0000709)1.79977407
128Growth hormone deficiency (HP:0000824)1.79599907
129Muscular hypotonia of the trunk (HP:0008936)1.78779293
130Craniofacial dystonia (HP:0012179)1.78660724
131Narrow nasal bridge (HP:0000446)1.78624939
132Optic nerve hypoplasia (HP:0000609)1.78426487
133Abnormality of salivation (HP:0100755)1.78251162
134Abnormality of binocular vision (HP:0011514)1.75793305
135Diplopia (HP:0000651)1.75793305
136Akinesia (HP:0002304)1.75624718
137Intellectual disability, severe (HP:0010864)1.75243666
138Acute necrotizing encephalopathy (HP:0006965)1.74592510
139Oligodactyly (hands) (HP:0001180)1.74414844
140Anomalous pulmonary venous return (HP:0010772)1.72950940
141Decreased muscle mass (HP:0003199)1.72839749

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK14.51206764
2NTRK33.78211960
3MAP3K93.23230774
4MINK12.92189767
5MAP3K42.91401369
6MAP2K72.65980094
7CASK2.63345290
8NTRK22.36022765
9MAP3K122.28577072
10MAP4K22.26303209
11EPHA42.24818440
12SIK32.15766938
13MAPK132.09405268
14PINK12.07368274
15KSR12.03901197
16DAPK21.89988789
17PAK61.83766302
18UHMK11.79338307
19MAP2K41.72953609
20INSRR1.62687450
21SIK21.59420952
22GRK51.57539853
23ARAF1.56858057
24PLK21.51029419
25BCR1.47728751
26CDK51.47252152
27DYRK21.46483736
28NTRK11.46105242
29EPHB21.44730902
30KSR21.41323370
31PNCK1.38420594
32PRKD31.35925523
33STK161.35249314
34DAPK11.33642078
35DYRK1B1.30186805
36SGK2231.26340889
37SGK4941.26340889
38PHKG21.26261597
39PHKG11.26261597
40ERBB31.21649353
41CDK191.21110291
42DYRK31.20956603
43EPHA31.20664654
44PRKCG1.20270909
45TNIK1.16837774
46TRIM281.14949614
47WNK31.14610290
48LIMK11.13823762
49DYRK1A1.06719991
50AKT31.06184178
51CAMKK11.06067841
52BRAF1.06009572
53MAPK151.02462993
54SGK21.00238754
55MAP3K21.00197090
56CDK180.97640546
57CSNK1G20.96515479
58PRPF4B0.95850018
59NME10.94818471
60CDK140.91769903
61CAMKK20.90886750
62CAMK2A0.90257524
63ADRBK20.89856846
64PAK30.85484447
65CAMK2B0.85427907
66CSNK1G10.84943391
67CDK150.84651261
68MARK20.82654107
69CDK11A0.74413149
70RPS6KA20.73917810
71CAMK1D0.70529159
72RET0.68863348
73FRK0.68245429
74PRKCE0.68113350
75TYRO30.66183875
76BCKDK0.64444362
77LATS20.64155677
78PRKCZ0.63427797
79GRK10.62227361
80BMPR1B0.60116351
81CAMK1G0.59465540
82CSNK1G30.58781111
83STK110.57767109
84SGK30.56411822
85RIPK40.56269806
86FER0.56036473
87CAMK10.55083826
88FES0.54898887
89BMPR20.54043369
90CCNB10.53747547
91PRKCH0.53620843
92CSNK1A10.53390337
93CAMK2D0.51455392
94OXSR10.49187780
95CDC42BPA0.48931252
96PRKAA10.48840942
97SGK10.48419200
98ADRBK10.47590314
99STK380.47436418
100MAP3K60.46251782
101CAMK2G0.43875960
102CSNK1D0.42955813
103HIPK20.42749390
104MAP2K10.42655127
105ERBB20.42417758
106CAMK40.40647071
107WNK40.40612145
108PRKCI0.38296115
109RPS6KA30.37344939
110MAPKAPK50.37053812
111MAPK100.34221301
112MAPK90.33161944
113PRKACA0.33119680
114PRKCB0.32909615
115LMTK20.32647245
116CSNK1A1L0.32491454
117PKN10.32408067
118RAF10.31628473
119MAPK80.30792855
120MAP3K10.30111615
121IRAK20.30098628
122CSNK1E0.29849530
123PRKG10.29550329
124PTK2B0.29459472
125PRKACB0.29061511
126PRKCA0.27347083
127GSK3B0.27294882
128FYN0.26755855
129PRKDC0.24065546
130PRKACG0.23669749

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047213.81148762
2Nicotine addiction_Homo sapiens_hsa050333.66473981
3GABAergic synapse_Homo sapiens_hsa047272.72324013
4Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.63058184
5Olfactory transduction_Homo sapiens_hsa047402.62731809
6Circadian entrainment_Homo sapiens_hsa047132.53751874
7Morphine addiction_Homo sapiens_hsa050322.39771270
8Glutamatergic synapse_Homo sapiens_hsa047242.36953857
9Amphetamine addiction_Homo sapiens_hsa050312.33156311
10Insulin secretion_Homo sapiens_hsa049112.33145298
11Dopaminergic synapse_Homo sapiens_hsa047282.31610220
12Long-term potentiation_Homo sapiens_hsa047202.30136250
13Collecting duct acid secretion_Homo sapiens_hsa049662.24655043
14Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.20525068
15Taste transduction_Homo sapiens_hsa047422.15385733
16Vasopressin-regulated water reabsorption_Homo sapiens_hsa049622.11273658
17Cholinergic synapse_Homo sapiens_hsa047251.96118460
18Serotonergic synapse_Homo sapiens_hsa047261.92104209
19Cocaine addiction_Homo sapiens_hsa050301.89093288
20Vibrio cholerae infection_Homo sapiens_hsa051101.70316619
21Salivary secretion_Homo sapiens_hsa049701.65431230
22Long-term depression_Homo sapiens_hsa047301.58222445
23Aldosterone synthesis and secretion_Homo sapiens_hsa049251.56007114
24Steroid biosynthesis_Homo sapiens_hsa001001.55906487
25Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.47044277
26Gastric acid secretion_Homo sapiens_hsa049711.43656111
27Renin secretion_Homo sapiens_hsa049241.39684789
28Axon guidance_Homo sapiens_hsa043601.39676995
29Gap junction_Homo sapiens_hsa045401.35338638
30Oxytocin signaling pathway_Homo sapiens_hsa049211.34500765
31Type II diabetes mellitus_Homo sapiens_hsa049301.29029707
32Phototransduction_Homo sapiens_hsa047441.25786351
33Oxidative phosphorylation_Homo sapiens_hsa001901.25283573
34GnRH signaling pathway_Homo sapiens_hsa049121.24305593
35Calcium signaling pathway_Homo sapiens_hsa040201.24275538
36Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.19551035
37Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.18806126
38Cardiac muscle contraction_Homo sapiens_hsa042601.15552790
39cAMP signaling pathway_Homo sapiens_hsa040241.04032472
40Estrogen signaling pathway_Homo sapiens_hsa049151.02853692
41Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.02482786
42Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.01969000
43Parkinsons disease_Homo sapiens_hsa050121.01358846
44Alzheimers disease_Homo sapiens_hsa050101.01019895
45ErbB signaling pathway_Homo sapiens_hsa040121.00554664
46Maturity onset diabetes of the young_Homo sapiens_hsa049500.98160444
47Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.97553146
48Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.96892191
49Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.96665100
50Melanogenesis_Homo sapiens_hsa049160.96609464
51Protein export_Homo sapiens_hsa030600.96120689
52Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.95937097
53Phosphatidylinositol signaling system_Homo sapiens_hsa040700.94439300
54Glioma_Homo sapiens_hsa052140.92679709
55Alcoholism_Homo sapiens_hsa050340.88032325
56Type I diabetes mellitus_Homo sapiens_hsa049400.86198930
57Oocyte meiosis_Homo sapiens_hsa041140.85170117
58cGMP-PKG signaling pathway_Homo sapiens_hsa040220.83876845
59Ether lipid metabolism_Homo sapiens_hsa005650.76533015
60Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.75038202
61Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.74183359
62Vascular smooth muscle contraction_Homo sapiens_hsa042700.73624851
63SNARE interactions in vesicular transport_Homo sapiens_hsa041300.73370515
64Huntingtons disease_Homo sapiens_hsa050160.73009574
65Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.71689171
66Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.71155905
67Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.69307356
68alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.69090256
69Pancreatic secretion_Homo sapiens_hsa049720.68281014
70Neurotrophin signaling pathway_Homo sapiens_hsa047220.67706048
71Endometrial cancer_Homo sapiens_hsa052130.66450951
72Carbohydrate digestion and absorption_Homo sapiens_hsa049730.65437721
73Linoleic acid metabolism_Homo sapiens_hsa005910.65315715
74Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.64712250
75Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.64049802
76Thyroid hormone synthesis_Homo sapiens_hsa049180.61308347
77Basal transcription factors_Homo sapiens_hsa030220.61028077
78Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.60176467
79MAPK signaling pathway_Homo sapiens_hsa040100.59940671
80Glucagon signaling pathway_Homo sapiens_hsa049220.59121440
81Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.56379290
82Circadian rhythm_Homo sapiens_hsa047100.55895791
83Choline metabolism in cancer_Homo sapiens_hsa052310.55835745
84Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.54517435
85Phospholipase D signaling pathway_Homo sapiens_hsa040720.53839146
86Ras signaling pathway_Homo sapiens_hsa040140.53779712
87Dorso-ventral axis formation_Homo sapiens_hsa043200.53543816
88Prion diseases_Homo sapiens_hsa050200.53464437
89Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.52773568
90Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.51342950
91Colorectal cancer_Homo sapiens_hsa052100.49942815
92Sulfur relay system_Homo sapiens_hsa041220.49346911
93Insulin signaling pathway_Homo sapiens_hsa049100.48905177
94Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.48788984
95Renal cell carcinoma_Homo sapiens_hsa052110.47971311
96Hippo signaling pathway_Homo sapiens_hsa043900.47825491
97Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.47579884
98beta-Alanine metabolism_Homo sapiens_hsa004100.47041861
99Wnt signaling pathway_Homo sapiens_hsa043100.46284867
100Phagosome_Homo sapiens_hsa041450.45897026
101Thyroid hormone signaling pathway_Homo sapiens_hsa049190.44151046
102Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.43602616
103Dilated cardiomyopathy_Homo sapiens_hsa054140.43400044
104Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.42672191
105VEGF signaling pathway_Homo sapiens_hsa043700.42377324
106Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.42172006
107Regulation of autophagy_Homo sapiens_hsa041400.41025007
108Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.40894784
109mTOR signaling pathway_Homo sapiens_hsa041500.40635081
110AMPK signaling pathway_Homo sapiens_hsa041520.40240740
111Ovarian steroidogenesis_Homo sapiens_hsa049130.40014523
112Endocytosis_Homo sapiens_hsa041440.39598991
113Sphingolipid signaling pathway_Homo sapiens_hsa040710.37842671
114Peroxisome_Homo sapiens_hsa041460.37814723
115Butanoate metabolism_Homo sapiens_hsa006500.37798408
116Hedgehog signaling pathway_Homo sapiens_hsa043400.35452213
117Prolactin signaling pathway_Homo sapiens_hsa049170.34646680
118Rap1 signaling pathway_Homo sapiens_hsa040150.34548302
119Rheumatoid arthritis_Homo sapiens_hsa053230.33478153
120Inositol phosphate metabolism_Homo sapiens_hsa005620.33415660
121Tryptophan metabolism_Homo sapiens_hsa003800.32685154
122Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.32631262
123Longevity regulating pathway - mammal_Homo sapiens_hsa042110.31317983
124Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.30637617
125Basal cell carcinoma_Homo sapiens_hsa052170.26518958
126Bile secretion_Homo sapiens_hsa049760.23593582
127Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.22765189
128Propanoate metabolism_Homo sapiens_hsa006400.22016927
129Selenocompound metabolism_Homo sapiens_hsa004500.21694632
130Metabolic pathways_Homo sapiens_hsa011000.20254462
131Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.20238577

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