GALNT13

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 GALNT13 protein is a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAcT; EC 2.4.1.41) family, which initiate O-linked glycosylation of mucins (see MUC3A, MIM 158371) by the initial transfer of N-acetylgalactosamine (GalNAc) with an alpha-linkage to a serine or threonine residue. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)5.25998256
2central nervous system myelination (GO:0022010)5.25870996
3axon ensheathment in central nervous system (GO:0032291)5.25870996
4vocalization behavior (GO:0071625)5.13965618
5neuron cell-cell adhesion (GO:0007158)4.88913928
6positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.80793870
7synaptic vesicle exocytosis (GO:0016079)4.68415720
8neuronal action potential propagation (GO:0019227)4.67183613
9regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.59796580
10L-amino acid import (GO:0043092)4.43301972
11regulation of synaptic vesicle exocytosis (GO:2000300)4.42007828
12potassium ion homeostasis (GO:0055075)4.38392820
13locomotory exploration behavior (GO:0035641)4.34440613
14synaptic vesicle maturation (GO:0016188)4.32693693
15ionotropic glutamate receptor signaling pathway (GO:0035235)4.28498834
16protein localization to synapse (GO:0035418)4.21182629
17regulation of glutamate receptor signaling pathway (GO:1900449)4.18208887
18glutamate receptor signaling pathway (GO:0007215)4.17076759
19neuron-neuron synaptic transmission (GO:0007270)4.16777705
20positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.16363394
21sodium ion export (GO:0071436)4.16282331
22glutamate secretion (GO:0014047)4.15891776
23negative regulation of synaptic transmission, GABAergic (GO:0032229)4.15246439
24amino acid import (GO:0043090)4.14164695
25presynaptic membrane assembly (GO:0097105)4.13338575
26regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.08498661
27synaptic transmission, glutamatergic (GO:0035249)4.04030815
28neurotransmitter-gated ion channel clustering (GO:0072578)4.00999126
29neurotransmitter secretion (GO:0007269)3.95677812
30G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.95092892
31gamma-aminobutyric acid signaling pathway (GO:0007214)3.91159834
32regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.89909195
33presynaptic membrane organization (GO:0097090)3.88472317
34regulation of synaptic vesicle transport (GO:1902803)3.83635429
35membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.82236218
36synaptic vesicle docking involved in exocytosis (GO:0016081)3.77476064
37negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.73880342
38cerebellar Purkinje cell differentiation (GO:0021702)3.68115021
39cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.65943692
40postsynaptic membrane organization (GO:0001941)3.63067515
41cerebellar granule cell differentiation (GO:0021707)3.62603299
42potassium ion import (GO:0010107)3.61912317
43gamma-aminobutyric acid transport (GO:0015812)3.59601986
44neuronal ion channel clustering (GO:0045161)3.58085262
45regulation of neuron projection regeneration (GO:0070570)3.57664921
46regulation of axon regeneration (GO:0048679)3.57664921
47regulation of excitatory postsynaptic membrane potential (GO:0060079)3.56393003
48dermatan sulfate biosynthetic process (GO:0030208)3.55062581
49regulation of synaptic transmission, glutamatergic (GO:0051966)3.53519190
50regulation of long-term neuronal synaptic plasticity (GO:0048169)3.53126029
51regulation of neuronal synaptic plasticity (GO:0048168)3.52090165
52exploration behavior (GO:0035640)3.51931367
53negative regulation of dendrite morphogenesis (GO:0050774)3.51812166
54response to histamine (GO:0034776)3.49376896
55transmission of nerve impulse (GO:0019226)3.48301505
56neurotransmitter uptake (GO:0001504)3.46309186
57regulation of postsynaptic membrane potential (GO:0060078)3.45514235
58cell communication by electrical coupling (GO:0010644)3.40512189
59positive regulation of synaptic transmission, GABAergic (GO:0032230)3.38384380
60membrane hyperpolarization (GO:0060081)3.37282662
61neurotransmitter transport (GO:0006836)3.35914016
62long-term synaptic potentiation (GO:0060291)3.34122883
63pyrimidine nucleobase catabolic process (GO:0006208)3.33470338
64synapse assembly (GO:0007416)3.33238033
65striatum development (GO:0021756)3.33203475
66long-term memory (GO:0007616)3.32650722
67innervation (GO:0060384)3.32458011
68neuron recognition (GO:0008038)3.32376907
69positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.30703004
70positive regulation of membrane potential (GO:0045838)3.28391807
71membrane depolarization during action potential (GO:0086010)3.28254923
72regulation of synapse structural plasticity (GO:0051823)3.27083387
73mechanosensory behavior (GO:0007638)3.24393801
74prepulse inhibition (GO:0060134)3.23542362
75cellular potassium ion homeostasis (GO:0030007)3.22029316
76positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.21865768
77dermatan sulfate metabolic process (GO:0030205)3.18302484
78auditory behavior (GO:0031223)3.17897703
79positive regulation of neurological system process (GO:0031646)3.16715341
80positive regulation of synapse assembly (GO:0051965)3.16708361
81righting reflex (GO:0060013)3.15700254
82membrane depolarization (GO:0051899)3.14751192
83regulation of neurotransmitter secretion (GO:0046928)3.14608987
84dendrite morphogenesis (GO:0048813)3.14244989
85establishment of mitochondrion localization (GO:0051654)3.14133931
86negative regulation of dendrite development (GO:2000171)3.13757941
87regulation of synaptic transmission, GABAergic (GO:0032228)3.13371331
88positive regulation of dendritic spine development (GO:0060999)3.12680597
89membrane assembly (GO:0071709)3.12432685
90regulation of voltage-gated calcium channel activity (GO:1901385)3.11602646
91behavioral response to cocaine (GO:0048148)3.10854997
92dendritic spine morphogenesis (GO:0060997)3.09421466
93regulation of vesicle fusion (GO:0031338)3.05414616
94acidic amino acid transport (GO:0015800)3.04533568
95neuromuscular process controlling balance (GO:0050885)3.03314079
96startle response (GO:0001964)3.02095779
97regulation of neurotransmitter levels (GO:0001505)3.01378619
98proline transport (GO:0015824)3.01240480
99photoreceptor cell differentiation (GO:0046530)3.01111375
100eye photoreceptor cell differentiation (GO:0001754)3.01111375
101positive regulation of synapse maturation (GO:0090129)3.00309601
102response to auditory stimulus (GO:0010996)3.00079810
103regulation of glutamate secretion (GO:0014048)2.99877299
104regulation of synaptic plasticity (GO:0048167)2.99257404
105regulation of neurotransmitter transport (GO:0051588)2.99066947
106regulation of respiratory system process (GO:0044065)2.98932347
107behavioral defense response (GO:0002209)2.98386876
108behavioral fear response (GO:0001662)2.98386876
109oligodendrocyte differentiation (GO:0048709)2.96038616
110axonal fasciculation (GO:0007413)2.95069687
111synaptic vesicle endocytosis (GO:0048488)2.94244480
112synaptic transmission (GO:0007268)2.92909704
113regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.90422385
114regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.90301545
115learning (GO:0007612)2.88346930
116positive regulation of dendritic spine morphogenesis (GO:0061003)2.88259264
117cell migration in hindbrain (GO:0021535)2.88180317
118cellular sodium ion homeostasis (GO:0006883)2.86359891
119cerebellar Purkinje cell layer development (GO:0021680)2.86218445
120adult walking behavior (GO:0007628)2.85889267
121neuromuscular process controlling posture (GO:0050884)2.85325373
122mating behavior (GO:0007617)2.83687515
123positive regulation of neurotransmitter transport (GO:0051590)2.83646418
124neuronal action potential (GO:0019228)2.82925563
125enteric nervous system development (GO:0048484)2.82434338
126fear response (GO:0042596)2.81518152
127cell differentiation in hindbrain (GO:0021533)2.81453119
128positive regulation of synaptic transmission (GO:0050806)2.78529710
129calcium ion-dependent exocytosis (GO:0017156)2.78518623
130synapse organization (GO:0050808)2.77584199
131nucleobase catabolic process (GO:0046113)2.76841835
132layer formation in cerebral cortex (GO:0021819)2.76788384
133synaptic transmission, dopaminergic (GO:0001963)2.75604940
134positive regulation of neurotransmitter secretion (GO:0001956)2.75456001

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.86183814
2GBX2_23144817_ChIP-Seq_PC3_Human4.12885218
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.05763006
4* SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.02860136
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.91204560
6* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.52780218
7RNF2_18974828_ChIP-Seq_MESCs_Mouse2.51471385
8EZH2_18974828_ChIP-Seq_MESCs_Mouse2.51471385
9SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.48739724
10SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.48067158
11TAF15_26573619_Chip-Seq_HEK293_Human2.47053712
12JARID2_20075857_ChIP-Seq_MESCs_Mouse2.46401556
13EZH2_27304074_Chip-Seq_ESCs_Mouse2.43876775
14EED_16625203_ChIP-ChIP_MESCs_Mouse2.36316792
15* REST_21632747_ChIP-Seq_MESCs_Mouse2.34019918
16* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.31207657
17* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.28330340
18GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.11921210
19ZFP57_27257070_Chip-Seq_ESCs_Mouse2.11206304
20CTBP2_25329375_ChIP-Seq_LNCAP_Human2.07594578
21EZH2_27294783_Chip-Seq_ESCs_Mouse2.05108671
22* RNF2_27304074_Chip-Seq_ESCs_Mouse2.02449410
23SUZ12_27294783_Chip-Seq_ESCs_Mouse2.02322247
24DROSHA_22980978_ChIP-Seq_HELA_Human1.94803843
25* SMAD4_21799915_ChIP-Seq_A2780_Human1.89160583
26CTBP1_25329375_ChIP-Seq_LNCAP_Human1.89119140
27BMI1_23680149_ChIP-Seq_NPCS_Mouse1.88364703
28AR_21572438_ChIP-Seq_LNCaP_Human1.88066382
29* RARB_27405468_Chip-Seq_BRAIN_Mouse1.86844778
30HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.85392571
31IKZF1_21737484_ChIP-ChIP_HCT116_Human1.80777129
32P300_19829295_ChIP-Seq_ESCs_Human1.80309498
33* REST_18959480_ChIP-ChIP_MESCs_Mouse1.78800929
34GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.78503753
35* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.78057257
36TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.77350957
37ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.75856180
38* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.72964207
39* POU3F2_20337985_ChIP-ChIP_501MEL_Human1.67008965
40CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.62493022
41NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.59197613
42CBX2_27304074_Chip-Seq_ESCs_Mouse1.57860236
43IGF1R_20145208_ChIP-Seq_DFB_Human1.56548956
44PIAS1_25552417_ChIP-Seq_VCAP_Human1.54499004
45SMAD3_21741376_ChIP-Seq_EPCs_Human1.51296172
46* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.48862069
47PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.48801601
48RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.46119419
49OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.45441229
50RNF2_27304074_Chip-Seq_NSC_Mouse1.44987572
51SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.44453098
52SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.44402161
53SMAD_19615063_ChIP-ChIP_OVARY_Human1.43827581
54RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.42331546
55* STAT3_23295773_ChIP-Seq_U87_Human1.40788756
56AR_25329375_ChIP-Seq_VCAP_Human1.37597326
57CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.35383012
58VDR_22108803_ChIP-Seq_LS180_Human1.31081896
59* FUS_26573619_Chip-Seq_HEK293_Human1.28611920
60* SOX2_21211035_ChIP-Seq_LN229_Gbm1.28509118
61AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.27748837
62CDX2_19796622_ChIP-Seq_MESCs_Mouse1.27145930
63NR3C1_23031785_ChIP-Seq_PC12_Mouse1.26902736
64* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.26188939
65ER_23166858_ChIP-Seq_MCF-7_Human1.25684542
66P53_22127205_ChIP-Seq_FIBROBLAST_Human1.25257362
67* TCF4_23295773_ChIP-Seq_U87_Human1.24224803
68WT1_25993318_ChIP-Seq_PODOCYTE_Human1.22894038
69RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.21272626
70ARNT_22903824_ChIP-Seq_MCF-7_Human1.20424512
71TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.18424799
72ZNF274_21170338_ChIP-Seq_K562_Hela1.17706134
73TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.17509363
74RUNX2_22187159_ChIP-Seq_PCA_Human1.16853318
75AHR_22903824_ChIP-Seq_MCF-7_Human1.16078208
76* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.16043600
77STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.15484912
78* NANOG_18555785_Chip-Seq_ESCs_Mouse1.14644583
79ZNF217_24962896_ChIP-Seq_MCF-7_Human1.14083789
80LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.13996712
81* SOX9_26525672_Chip-Seq_HEART_Mouse1.13470378
82* AR_19668381_ChIP-Seq_PC3_Human1.11183422
83ERG_21242973_ChIP-ChIP_JURKAT_Human1.09787135
84TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.09510298
85PRDM14_20953172_ChIP-Seq_ESCs_Human1.08867527
86* CTNNB1_20460455_ChIP-Seq_HCT116_Human1.08492808
87GATA1_26923725_Chip-Seq_HPCs_Mouse1.08355390
88SMAD4_21741376_ChIP-Seq_HESCs_Human1.08249253
89RING1B_27294783_Chip-Seq_ESCs_Mouse1.08225070
90TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.08087717
91MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.06143203
92NR3C1_21868756_ChIP-Seq_MCF10A_Human1.05744486
93* JUN_21703547_ChIP-Seq_K562_Human1.04832152
94SMAD3_21741376_ChIP-Seq_HESCs_Human1.04426807
95CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.04188655
96KDM2B_26808549_Chip-Seq_REH_Human1.03339873
97MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.03127889
98YAP1_20516196_ChIP-Seq_MESCs_Mouse0.99809323
99* E2F1_18555785_Chip-Seq_ESCs_Mouse0.99782237
100MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.99295959
101TP53_18474530_ChIP-ChIP_U2OS_Human0.99006165
102TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.98849807
103POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.98849807
104CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.97925993
105EWS_26573619_Chip-Seq_HEK293_Human0.97905268
106* EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.97136411
107RING1B_27294783_Chip-Seq_NPCs_Mouse0.96412795
108* TP53_16413492_ChIP-PET_HCT116_Human0.96370023
109EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.95876229
110SMAD3_21741376_ChIP-Seq_ESCs_Human0.95785084
111BCAT_22108803_ChIP-Seq_LS180_Human0.95346791
112FLI1_27457419_Chip-Seq_LIVER_Mouse0.95198020
113* P53_22387025_ChIP-Seq_ESCs_Mouse0.94141521
114* CMYC_18555785_Chip-Seq_ESCs_Mouse0.93758675
115KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.93488410
116PCGF2_27294783_Chip-Seq_ESCs_Mouse0.91798969

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity4.65253300
2MP0003880_abnormal_central_pattern4.45172494
3MP0003635_abnormal_synaptic_transmissio3.67309385
4MP0009046_muscle_twitch3.52117380
5MP0004270_analgesia3.48509104
6MP0009745_abnormal_behavioral_response3.30932244
7MP0001968_abnormal_touch/_nociception3.29637591
8MP0002064_seizures3.04698170
9MP0002063_abnormal_learning/memory/cond2.97516322
10MP0002735_abnormal_chemical_nociception2.89705701
11MP0002272_abnormal_nervous_system2.80922798
12MP0002822_catalepsy2.78281135
13MP0002572_abnormal_emotion/affect_behav2.76308183
14MP0002734_abnormal_mechanical_nocicepti2.73309103
15MP0002736_abnormal_nociception_after2.61454996
16MP0001486_abnormal_startle_reflex2.59308229
17MP0005423_abnormal_somatic_nervous2.41662049
18MP0002067_abnormal_sensory_capabilities2.26664595
19MP0006276_abnormal_autonomic_nervous2.21458891
20MP0001440_abnormal_grooming_behavior2.11153725
21MP0001501_abnormal_sleep_pattern2.10885301
22MP0001984_abnormal_olfaction2.07182730
23MP0001970_abnormal_pain_threshold2.01804947
24MP0002184_abnormal_innervation2.01296531
25MP0008569_lethality_at_weaning1.99309274
26MP0002733_abnormal_thermal_nociception1.97603058
27MP0001188_hyperpigmentation1.96401017
28MP0005646_abnormal_pituitary_gland1.88403149
29MP0001529_abnormal_vocalization1.84703947
30MP0005386_behavior/neurological_phenoty1.83999337
31MP0004924_abnormal_behavior1.83999337
32MP0004742_abnormal_vestibular_system1.77750407
33MP0004885_abnormal_endolymph1.76535277
34MP0002557_abnormal_social/conspecific_i1.76403531
35MP0004142_abnormal_muscle_tone1.67188870
36MP0000778_abnormal_nervous_system1.63967143
37MP0001986_abnormal_taste_sensitivity1.59887052
38MP0005551_abnormal_eye_electrophysiolog1.54385644
39MP0003879_abnormal_hair_cell1.51994056
40MP0003136_yellow_coat_color1.48916762
41MP0002882_abnormal_neuron_morphology1.44146759
42MP0009780_abnormal_chondrocyte_physiolo1.42924455
43MP0005645_abnormal_hypothalamus_physiol1.42151685
44MP0004811_abnormal_neuron_physiology1.41812512
45MP0002066_abnormal_motor_capabilities/c1.39436754
46MP0000955_abnormal_spinal_cord1.38347868
47MP0003329_amyloid_beta_deposits1.36850004
48MP0001905_abnormal_dopamine_level1.35929150
49MP0004858_abnormal_nervous_system1.35322400
50MP0003121_genomic_imprinting1.35273442
51MP0001502_abnormal_circadian_rhythm1.33825083
52MP0003787_abnormal_imprinting1.28730589
53MP0003122_maternal_imprinting1.27905340
54MP0005171_absent_coat_pigmentation1.25793976
55MP0008877_abnormal_DNA_methylation1.25378285
56MP0002909_abnormal_adrenal_gland1.21827504
57MP0003633_abnormal_nervous_system1.19521140
58MP0010386_abnormal_urinary_bladder1.19291507
59MP0002229_neurodegeneration1.18338139
60MP0003890_abnormal_embryonic-extraembry1.17366078
61MP0004145_abnormal_muscle_electrophysio1.16782297
62MP0001963_abnormal_hearing_physiology1.12915430
63MP0003123_paternal_imprinting1.12830332
64MP0001485_abnormal_pinna_reflex1.10173566
65MP0003631_nervous_system_phenotype1.06031941
66MP0008872_abnormal_physiological_respon1.05373524
67MP0002876_abnormal_thyroid_physiology1.03578700
68MP0005187_abnormal_penis_morphology1.03056050
69MP0001177_atelectasis1.01139758
70MP0003861_abnormal_nervous_system0.99599211
71MP0002752_abnormal_somatic_nervous0.99323209
72MP0000631_abnormal_neuroendocrine_gland0.98519791
73MP0002152_abnormal_brain_morphology0.98345726
74MP0000013_abnormal_adipose_tissue0.98006704
75MP0000920_abnormal_myelination0.96645892
76MP0005409_darkened_coat_color0.95174219
77MP0003119_abnormal_digestive_system0.94075325
78MP0000579_abnormal_nail_morphology0.93551161
79MP0006072_abnormal_retinal_apoptosis0.92129604
80MP0005499_abnormal_olfactory_system0.89800173
81MP0005394_taste/olfaction_phenotype0.89800173
82MP0002837_dystrophic_cardiac_calcinosis0.88262640
83MP0004085_abnormal_heartbeat0.85413584
84MP0002069_abnormal_eating/drinking_beha0.83958641
85MP0003634_abnormal_glial_cell0.83863787
86MP0003632_abnormal_nervous_system0.82366992
87MP0002653_abnormal_ependyma_morphology0.81419932
88MP0000751_myopathy0.81147658
89MP0005248_abnormal_Harderian_gland0.81124969
90MP0001299_abnormal_eye_distance/0.78331280
91MP0000026_abnormal_inner_ear0.76872998
92MP0001346_abnormal_lacrimal_gland0.76470521
93MP0004215_abnormal_myocardial_fiber0.74359655
94MP0005253_abnormal_eye_physiology0.74153664
95MP0002090_abnormal_vision0.72477325
96MP0008874_decreased_physiological_sensi0.71760361
97MP0002638_abnormal_pupillary_reflex0.70765265
98MP0000569_abnormal_digit_pigmentation0.67966694
99MP0003690_abnormal_glial_cell0.67040919
100MP0002751_abnormal_autonomic_nervous0.64780212
101MP0005623_abnormal_meninges_morphology0.64396145
102MP0001943_abnormal_respiration0.64387813
103MP0005535_abnormal_body_temperature0.64289276
104MP0003283_abnormal_digestive_organ0.63628026
105MP0004133_heterotaxia0.63463001
106MP0004484_altered_response_of0.63195109
107MP0005167_abnormal_blood-brain_barrier0.62349307
108MP0001664_abnormal_digestion0.61740695
109MP0010768_mortality/aging0.61588560
110MP0004147_increased_porphyrin_level0.60424311
111MP0000372_irregular_coat_pigmentation0.58739657
112MP0002163_abnormal_gland_morphology0.57411055
113MP0003137_abnormal_impulse_conducting0.56410685
114MP0002081_perinatal_lethality0.56243577
115MP0005379_endocrine/exocrine_gland_phen0.56212613
116MP0005391_vision/eye_phenotype0.55254594
117MP0002234_abnormal_pharynx_morphology0.54334357
118MP0008057_abnormal_DNA_replication0.53928244
119MP0005195_abnormal_posterior_eye0.50265542
120MP0010770_preweaning_lethality0.49345824
121MP0002082_postnatal_lethality0.49345824
122MP0010769_abnormal_survival0.47405189

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.75383093
2Myokymia (HP:0002411)5.69960798
3Febrile seizures (HP:0002373)5.52119855
4Focal seizures (HP:0007359)5.47521770
5Atonic seizures (HP:0010819)5.30087224
6Epileptic encephalopathy (HP:0200134)4.91506356
7Progressive cerebellar ataxia (HP:0002073)4.51505427
8Absence seizures (HP:0002121)4.46997624
9Visual hallucinations (HP:0002367)4.27132534
10Action tremor (HP:0002345)4.12757043
11Dialeptic seizures (HP:0011146)4.01655593
12Generalized tonic-clonic seizures (HP:0002069)3.74776086
13Broad-based gait (HP:0002136)3.72418636
14Hyperventilation (HP:0002883)3.65997098
15Gaze-evoked nystagmus (HP:0000640)3.62155678
16Dysdiadochokinesis (HP:0002075)3.26342484
17Peripheral hypomyelination (HP:0007182)3.20551302
18Scanning speech (HP:0002168)3.16307045
19Truncal ataxia (HP:0002078)3.03747340
20Oligodactyly (hands) (HP:0001180)2.88673862
21Pheochromocytoma (HP:0002666)2.86070857
22Increased circulating renin level (HP:0000848)2.78431697
23Anxiety (HP:0000739)2.77285610
24Dysmetria (HP:0001310)2.74145874
25Poor eye contact (HP:0000817)2.72614632
26Ankle clonus (HP:0011448)2.67605219
27Excessive salivation (HP:0003781)2.62839487
28Drooling (HP:0002307)2.62839487
29Abnormal eating behavior (HP:0100738)2.61422510
30Gait imbalance (HP:0002141)2.60026512
31Insidious onset (HP:0003587)2.59857151
32Termporal pattern (HP:0011008)2.59857151
33Impaired vibration sensation in the lower limbs (HP:0002166)2.59392532
34Megalencephaly (HP:0001355)2.57962564
35Abnormality of the corticospinal tract (HP:0002492)2.56031947
36Progressive inability to walk (HP:0002505)2.54568695
37Depression (HP:0000716)2.52653184
38Amblyopia (HP:0000646)2.51986207
39Hypothermia (HP:0002045)2.51916055
40Neuroendocrine neoplasm (HP:0100634)2.51129060
41Abnormal social behavior (HP:0012433)2.50793773
42Impaired social interactions (HP:0000735)2.50793773
43Supranuclear gaze palsy (HP:0000605)2.45504247
44Urinary bladder sphincter dysfunction (HP:0002839)2.41378721
45Cerebral inclusion bodies (HP:0100314)2.41075465
46Absent speech (HP:0001344)2.40608208
47Fetal akinesia sequence (HP:0001989)2.38955752
48Epileptiform EEG discharges (HP:0011182)2.38588770
49Limb dystonia (HP:0002451)2.35604773
50Impaired smooth pursuit (HP:0007772)2.34892154
51Congenital primary aphakia (HP:0007707)2.33091162
52Medial flaring of the eyebrow (HP:0010747)2.32314866
53Hemiparesis (HP:0001269)2.31672316
54Spastic gait (HP:0002064)2.29969950
55Nephrogenic diabetes insipidus (HP:0009806)2.28064220
56EEG with generalized epileptiform discharges (HP:0011198)2.26278635
57Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.26258515
58Degeneration of the lateral corticospinal tracts (HP:0002314)2.26258515
59Sleep apnea (HP:0010535)2.25829047
60Diplopia (HP:0000651)2.25730730
61Abnormality of binocular vision (HP:0011514)2.25730730
62Intention tremor (HP:0002080)2.25678121
63Split foot (HP:0001839)2.24940949
64Genetic anticipation (HP:0003743)2.24840820
65Abnormal hair whorl (HP:0010721)2.23327097
66Blue irides (HP:0000635)2.22648504
67Obstructive sleep apnea (HP:0002870)2.20742787
68Tracheomalacia (HP:0002779)2.20599800
69Specific learning disability (HP:0001328)2.15347986
70Dysmetric saccades (HP:0000641)2.14839077
71Cerebral hypomyelination (HP:0006808)2.11499463
72Narrow nasal bridge (HP:0000446)2.04607333
73Protruding tongue (HP:0010808)2.04203396
74Hypsarrhythmia (HP:0002521)2.04068992
75Inability to walk (HP:0002540)2.03907508
76Morphological abnormality of the pyramidal tract (HP:0002062)2.03192890
77Agitation (HP:0000713)2.02568793
78Abnormality of cochlea (HP:0000375)2.01291292
79Abnormality of ocular smooth pursuit (HP:0000617)2.00424900
80Mutism (HP:0002300)2.00057479
81Genital tract atresia (HP:0001827)1.99904745
82Polyphagia (HP:0002591)1.99052531
83Urinary urgency (HP:0000012)1.99009007
84Retinal dysplasia (HP:0007973)1.97871012
85Septo-optic dysplasia (HP:0100842)1.97060924
86Postural instability (HP:0002172)1.96267539
87Torticollis (HP:0000473)1.94595927
88Cortical dysplasia (HP:0002539)1.94025245
89Congenital stationary night blindness (HP:0007642)1.92528057
90Vaginal atresia (HP:0000148)1.92424362
91Stereotypic behavior (HP:0000733)1.91249592
92Congenital malformation of the right heart (HP:0011723)1.90960472
93Double outlet right ventricle (HP:0001719)1.90960472
94Optic nerve hypoplasia (HP:0000609)1.90281768
95Failure to thrive in infancy (HP:0001531)1.90100764
96Esotropia (HP:0000565)1.90075709
97Lower limb muscle weakness (HP:0007340)1.89013016
98Aqueductal stenosis (HP:0002410)1.88857604
99Oligodactyly (HP:0012165)1.88307804
100Resting tremor (HP:0002322)1.88202120
101Bradycardia (HP:0001662)1.88058859
102Alacrima (HP:0000522)1.87926547
103Insomnia (HP:0100785)1.87920170
104Vitreoretinal degeneration (HP:0000655)1.87750750
105Hypoventilation (HP:0002791)1.87294378
106Psychosis (HP:0000709)1.87129612
107Abnormality of the labia minora (HP:0012880)1.85807887
108Intestinal atresia (HP:0011100)1.85240587
109Neoplasm of the oral cavity (HP:0100649)1.84631841
110Abnormality of salivation (HP:0100755)1.83916433
111Bell-shaped thorax (HP:0001591)1.83140558
112Gait ataxia (HP:0002066)1.82703199
113Generalized myoclonic seizures (HP:0002123)1.81072339
114Hyperthyroidism (HP:0000836)1.80167365
115Bradykinesia (HP:0002067)1.80142739
116Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.79820528
117Status epilepticus (HP:0002133)1.79820073
118Morphological abnormality of the inner ear (HP:0011390)1.79334332
119Focal dystonia (HP:0004373)1.77433067
120Postural tremor (HP:0002174)1.76028782
121Impaired vibratory sensation (HP:0002495)1.75579413
122Poor suck (HP:0002033)1.75514225
123Cutaneous finger syndactyly (HP:0010554)1.75410479
124Abnormality of the lower motor neuron (HP:0002366)1.75135686
125Volvulus (HP:0002580)1.73911406
126Abnormality of macular pigmentation (HP:0008002)1.73629604
127Akinesia (HP:0002304)1.73011860
128Incomplete penetrance (HP:0003829)1.72867815
129Hemiplegia (HP:0002301)1.72854610
130Neurofibrillary tangles (HP:0002185)1.71714535
131Apathy (HP:0000741)1.71126098
132Hammertoe (HP:0001765)1.68130256
133Missing ribs (HP:0000921)1.67421153
134Hepatoblastoma (HP:0002884)1.64239167
135Supernumerary spleens (HP:0009799)1.60758277
136Decreased lacrimation (HP:0000633)1.59321383

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CASK4.72951713
2NTRK34.35206309
3EPHA43.29154532
4MAP3K42.65674163
5MAP2K72.60490408
6MINK12.56353482
7MAP3K92.31787250
8MARK12.23034401
9MAP3K122.06360931
10PRPF4B1.95179955
11NTRK21.93848974
12SIK31.85389166
13TNIK1.84712698
14RIPK41.83801284
15LMTK21.79187114
16CAMKK21.78173002
17DAPK21.75947177
18PLK21.73987616
19NTRK11.61305614
20SGK4941.61047526
21SGK2231.61047526
22MAP2K41.58849174
23SGK21.56144960
24MAPK131.52932579
25GRK51.48018518
26AKT31.44098432
27MKNK21.41842530
28CDK191.40440231
29OXSR11.35058791
30PAK61.34942061
31ARAF1.30716409
32KSR11.28015616
33CDK51.26647249
34CAMKK11.23378324
35PRKCG1.20921102
36BMPR21.17862994
37BCR1.17236096
38PNCK1.16844197
39KSR21.14197474
40CAMK2A1.13170778
41WNK11.11313948
42DYRK21.10634078
43UHMK11.05739266
44CAMK1G1.05436098
45DAPK11.05087299
46SIK21.02085209
47MAP3K21.01373045
48STK38L1.01143713
49FES1.01089366
50ALK1.00933132
51ADRBK20.97749447
52SGK30.96742783
53CSNK1G10.94355300
54PRKCE0.93133728
55CAMK2B0.90816758
56WNK30.89516503
57CSNK1G30.88170349
58STK390.88111798
59TNK20.83481719
60INSRR0.81789004
61PRKCH0.79199681
62STK380.77045453
63CSNK1A1L0.76343043
64SGK10.76012997
65NEK60.74330442
66PINK10.73948769
67CAMK2D0.73452888
68CSNK1E0.71980959
69CDK180.71358896
70CAMK1D0.70037236
71LATS20.69242437
72CDK140.67643813
73STK110.66995029
74ADRBK10.66460495
75MKNK10.65996118
76PHKG20.65813517
77PHKG10.65813517
78CAMK10.65400569
79MAP3K130.64976302
80CSNK1G20.64742083
81PRKCZ0.63781736
82GRK70.62710934
83CSNK1D0.62617840
84CDK150.62488219
85MAPKAPK50.61560336
86DYRK1A0.60799478
87FER0.59607767
88FRK0.57510804
89PRKD30.57029724
90CAMK2G0.56486792
91BRAF0.55507340
92IRAK20.55138664
93PDGFRA0.52975828
94PRKDC0.52519321
95CDK11A0.51806431
96ROCK20.50507991
97MUSK0.50125325
98ROCK10.49775331
99CDK30.49380979
100PRKG10.48939784
101MAP2K10.48635443
102YES10.47937107
103PRKACA0.47674532
104RPS6KB10.47500197
105MARK20.46936079
106ERBB30.46431725
107RET0.46032006
108PAK30.45842213
109PTK2B0.45485410
110RPS6KA30.45122242
111PKN10.45052322
112BRSK10.45011854
113PLK40.44626014
114BMPR1B0.44063812
115SRPK10.44039005
116FGFR20.42441505
117ICK0.42075257
118RIPK10.42010972
119TYRO30.41357892
120PRKCB0.41300219
121CSNK1A10.41296668
122FGR0.41153164
123PBK0.40724305
124CAMK40.40533094
125WNK40.39773015
126GSK3B0.39378782
127MAPK100.39105715
128RPS6KA20.37355345
129PDK10.36899003
130TSSK60.36361076

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.10070837
2Synaptic vesicle cycle_Homo sapiens_hsa047213.34536453
3Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.85877311
4GABAergic synapse_Homo sapiens_hsa047272.79919967
5Olfactory transduction_Homo sapiens_hsa047402.75228901
6Morphine addiction_Homo sapiens_hsa050322.70344003
7Circadian entrainment_Homo sapiens_hsa047132.62517844
8Glutamatergic synapse_Homo sapiens_hsa047242.59180288
9Long-term potentiation_Homo sapiens_hsa047202.42621400
10Taste transduction_Homo sapiens_hsa047422.37537589
11Amphetamine addiction_Homo sapiens_hsa050312.32487329
12Dopaminergic synapse_Homo sapiens_hsa047282.15053214
13Collecting duct acid secretion_Homo sapiens_hsa049662.07400452
14Salivary secretion_Homo sapiens_hsa049702.05485197
15Serotonergic synapse_Homo sapiens_hsa047262.01833768
16Long-term depression_Homo sapiens_hsa047301.92491272
17Phototransduction_Homo sapiens_hsa047441.92087290
18Insulin secretion_Homo sapiens_hsa049111.91786407
19Cholinergic synapse_Homo sapiens_hsa047251.82701534
20Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.80532042
21Renin secretion_Homo sapiens_hsa049241.75326518
22Cocaine addiction_Homo sapiens_hsa050301.67161853
23Gastric acid secretion_Homo sapiens_hsa049711.65553892
24Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.61805361
25Calcium signaling pathway_Homo sapiens_hsa040201.59016141
26Aldosterone synthesis and secretion_Homo sapiens_hsa049251.53532878
27Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.51390741
28Oxytocin signaling pathway_Homo sapiens_hsa049211.44715246
29Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.44073796
30Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.36829036
31Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.35659816
32Vibrio cholerae infection_Homo sapiens_hsa051101.35224203
33Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.29174118
34Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.28093684
35Gap junction_Homo sapiens_hsa045401.28082217
36GnRH signaling pathway_Homo sapiens_hsa049121.25716772
37Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.22651407
38cAMP signaling pathway_Homo sapiens_hsa040241.18492180
39Phosphatidylinositol signaling system_Homo sapiens_hsa040701.18229131
40Cardiac muscle contraction_Homo sapiens_hsa042601.13219122
41Oxidative phosphorylation_Homo sapiens_hsa001901.05681490
42Axon guidance_Homo sapiens_hsa043601.04327293
43Bile secretion_Homo sapiens_hsa049761.01015785
44Vitamin B6 metabolism_Homo sapiens_hsa007501.00396400
45Vascular smooth muscle contraction_Homo sapiens_hsa042700.96578640
46cGMP-PKG signaling pathway_Homo sapiens_hsa040220.96563870
47Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.94893071
48Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.93666788
49Estrogen signaling pathway_Homo sapiens_hsa049150.92306389
50Alzheimers disease_Homo sapiens_hsa050100.91375457
51ErbB signaling pathway_Homo sapiens_hsa040120.89788664
52Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.89667102
53Type II diabetes mellitus_Homo sapiens_hsa049300.89043157
54Pancreatic secretion_Homo sapiens_hsa049720.88196303
55Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.85920713
56Melanogenesis_Homo sapiens_hsa049160.84918012
57Glioma_Homo sapiens_hsa052140.81136084
58Hippo signaling pathway_Homo sapiens_hsa043900.79307346
59Thyroid hormone synthesis_Homo sapiens_hsa049180.76188387
60Parkinsons disease_Homo sapiens_hsa050120.73571623
61Fatty acid biosynthesis_Homo sapiens_hsa000610.71031785
62Arginine biosynthesis_Homo sapiens_hsa002200.71023984
63Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.68705563
64Phospholipase D signaling pathway_Homo sapiens_hsa040720.68143064
65Dorso-ventral axis formation_Homo sapiens_hsa043200.66587893
66MAPK signaling pathway_Homo sapiens_hsa040100.66552191
67Butanoate metabolism_Homo sapiens_hsa006500.66101987
68Dilated cardiomyopathy_Homo sapiens_hsa054140.64798720
69Fatty acid metabolism_Homo sapiens_hsa012120.64468584
70SNARE interactions in vesicular transport_Homo sapiens_hsa041300.64258214
71Rheumatoid arthritis_Homo sapiens_hsa053230.62581527
72Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.61628490
73Ras signaling pathway_Homo sapiens_hsa040140.61443540
74Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.59993188
75Alcoholism_Homo sapiens_hsa050340.58182470
76Oocyte meiosis_Homo sapiens_hsa041140.58075606
77Choline metabolism in cancer_Homo sapiens_hsa052310.58031167
78Type I diabetes mellitus_Homo sapiens_hsa049400.57821665
79beta-Alanine metabolism_Homo sapiens_hsa004100.57518935
80Inositol phosphate metabolism_Homo sapiens_hsa005620.54291814
81Circadian rhythm_Homo sapiens_hsa047100.54233129
82Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.54090581
83Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.53500901
84Histidine metabolism_Homo sapiens_hsa003400.51110789
85Tight junction_Homo sapiens_hsa045300.50868786
86Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.50513741
87Propanoate metabolism_Homo sapiens_hsa006400.49291608
88Rap1 signaling pathway_Homo sapiens_hsa040150.48165206
89Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.47629936
90Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.46735439
91Huntingtons disease_Homo sapiens_hsa050160.45944949
92Ovarian steroidogenesis_Homo sapiens_hsa049130.45386319
93Arginine and proline metabolism_Homo sapiens_hsa003300.45048425
94Longevity regulating pathway - mammal_Homo sapiens_hsa042110.44262289
95Lysine degradation_Homo sapiens_hsa003100.44211083
96Sphingolipid signaling pathway_Homo sapiens_hsa040710.44064544
97Melanoma_Homo sapiens_hsa052180.44052442
98Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.43197188
99AMPK signaling pathway_Homo sapiens_hsa041520.43018194
100Nitrogen metabolism_Homo sapiens_hsa009100.42095766
101Phagosome_Homo sapiens_hsa041450.40793865
102Glucagon signaling pathway_Homo sapiens_hsa049220.38270629
103Steroid biosynthesis_Homo sapiens_hsa001000.37477532
104Non-homologous end-joining_Homo sapiens_hsa034500.35340843
105Ether lipid metabolism_Homo sapiens_hsa005650.35093646
106Mineral absorption_Homo sapiens_hsa049780.34913711
107Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.34831288
108Neurotrophin signaling pathway_Homo sapiens_hsa047220.34749350
109Wnt signaling pathway_Homo sapiens_hsa043100.34262919
110African trypanosomiasis_Homo sapiens_hsa051430.33199578
111Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.32696096
112Thyroid hormone signaling pathway_Homo sapiens_hsa049190.30504942
113Renal cell carcinoma_Homo sapiens_hsa052110.29242511
114Carbohydrate digestion and absorption_Homo sapiens_hsa049730.27038861
115Sphingolipid metabolism_Homo sapiens_hsa006000.26576083
116Endocytosis_Homo sapiens_hsa041440.26400096
117Endometrial cancer_Homo sapiens_hsa052130.25600683
118Chemokine signaling pathway_Homo sapiens_hsa040620.25377134
119Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.24763485
120Glycerophospholipid metabolism_Homo sapiens_hsa005640.24643184
121Prion diseases_Homo sapiens_hsa050200.23247024

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