LARGE1

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





Description: This gene, which is one of the largest in the human genome, encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide unit. Mutations in this gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in two transcript variants that encode the same protein. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.78604942
2regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)4.28774553
3regulation of short-term neuronal synaptic plasticity (GO:0048172)4.25089228
4cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.16425597
5cell communication by electrical coupling (GO:0010644)3.91861837
6synaptic vesicle docking involved in exocytosis (GO:0016081)3.87835786
7regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.78758721
8regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)3.75014623
9neuronal action potential propagation (GO:0019227)3.71482979
10cell communication involved in cardiac conduction (GO:0086065)3.71462888
11regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.70314520
12positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)3.65871344
13cardiac myofibril assembly (GO:0055003)3.63234555
14vocalization behavior (GO:0071625)3.62187990
15presynaptic membrane assembly (GO:0097105)3.58098081
16ionotropic glutamate receptor signaling pathway (GO:0035235)3.56907814
17synaptic vesicle maturation (GO:0016188)3.56673208
18sarcoplasmic reticulum calcium ion transport (GO:0070296)3.39897227
19myofibril assembly (GO:0030239)3.39512041
20presynaptic membrane organization (GO:0097090)3.38885898
21short-term memory (GO:0007614)3.36736178
22membrane depolarization during action potential (GO:0086010)3.36479101
23positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.35250513
24postsynaptic membrane organization (GO:0001941)3.34249396
25cerebellar granule cell differentiation (GO:0021707)3.33362189
26positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.21838924
27regulation of cell communication by electrical coupling (GO:0010649)3.18528358
28cellular potassium ion homeostasis (GO:0030007)3.17714917
29C4-dicarboxylate transport (GO:0015740)3.15927924
30synaptic transmission, glutamatergic (GO:0035249)3.15686217
31cardiac muscle contraction (GO:0060048)3.14904877
32glutamate receptor signaling pathway (GO:0007215)3.13553570
33sodium ion export (GO:0071436)3.12684721
34neuron cell-cell adhesion (GO:0007158)3.07769228
35negative regulation of cytosolic calcium ion concentration (GO:0051481)3.06370621
36glutamate secretion (GO:0014047)3.04768378
37regulation of actin filament-based movement (GO:1903115)3.04143629
38muscle filament sliding (GO:0030049)3.02767163
39actin-myosin filament sliding (GO:0033275)3.02767163
40sarcomere organization (GO:0045214)3.00961849
41positive regulation of excitatory postsynaptic membrane potential (GO:2000463)2.99386513
42protein localization to synapse (GO:0035418)2.97110168
43regulation of membrane repolarization (GO:0060306)2.95256944
44regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)2.89211067
45neuron-neuron synaptic transmission (GO:0007270)2.88382584
46regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)2.85840914
47positive regulation of dendritic spine morphogenesis (GO:0061003)2.85533088
48regulation of voltage-gated calcium channel activity (GO:1901385)2.85158508
49detection of calcium ion (GO:0005513)2.84957043
50regulation of synaptic vesicle exocytosis (GO:2000300)2.84928780
51regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act2.84231851
52innervation (GO:0060384)2.83739860
53transmission of nerve impulse (GO:0019226)2.82268945
54cellular sodium ion homeostasis (GO:0006883)2.82254581
55cardiac muscle hypertrophy (GO:0003300)2.78278657
56relaxation of cardiac muscle (GO:0055119)2.77300074
57striated muscle contraction (GO:0006941)2.75836130
58regulation of dendritic spine morphogenesis (GO:0061001)2.74446691
59gamma-aminobutyric acid signaling pathway (GO:0007214)2.73720748
60neuromuscular synaptic transmission (GO:0007274)2.72437343
61gamma-aminobutyric acid transport (GO:0015812)2.70123728
62positive regulation of calcium ion transmembrane transporter activity (GO:1901021)2.70112198
63cerebellar Purkinje cell differentiation (GO:0021702)2.68898083
64regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.67618096
65striated muscle hypertrophy (GO:0014897)2.65566646
66synaptic vesicle exocytosis (GO:0016079)2.65104014
67neurotransmitter secretion (GO:0007269)2.64465706
68cardiac muscle cell action potential (GO:0086001)2.62799150
69cochlea development (GO:0090102)2.62783784
70exploration behavior (GO:0035640)2.61742995
71regulation of glutamate receptor signaling pathway (GO:1900449)2.61299298
72regulation of synaptic vesicle transport (GO:1902803)2.60602558
73regulation of sarcomere organization (GO:0060297)2.59008922
74G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.58636992
75behavioral response to nicotine (GO:0035095)2.58093267
76regulation of calcium ion transmembrane transporter activity (GO:1901019)2.57817468
77regulation of calcium ion transmembrane transport (GO:1903169)2.57817468
78multicellular organismal signaling (GO:0035637)2.57263894
79actin-mediated cell contraction (GO:0070252)2.56761909
80membrane depolarization (GO:0051899)2.55842492
81neurotransmitter-gated ion channel clustering (GO:0072578)2.55762499
82auditory receptor cell stereocilium organization (GO:0060088)2.55749589
83neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)2.55294684
84response to stimulus involved in regulation of muscle adaptation (GO:0014874)2.54527378
85regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.54507256
86regulation of neuronal synaptic plasticity (GO:0048168)2.53656570
87neuron recognition (GO:0008038)2.53306130
88cardiac muscle cell action potential involved in contraction (GO:0086002)2.52993657
89regulation of relaxation of muscle (GO:1901077)2.52718492
90cardiac conduction (GO:0061337)2.52583536
91neuronal ion channel clustering (GO:0045161)2.52468263
92regulation of excitatory postsynaptic membrane potential (GO:0060079)2.51670046
93ventricular cardiac muscle cell action potential (GO:0086005)2.51458000
94regulation of postsynaptic membrane potential (GO:0060078)2.49896789
95axonal fasciculation (GO:0007413)2.49499176
96actomyosin structure organization (GO:0031032)2.47235845
97positive regulation of action potential (GO:0045760)2.45310541
98locomotory exploration behavior (GO:0035641)2.44668988
99regulation of sodium ion transmembrane transport (GO:1902305)2.43779534
100adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)2.42822349

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.99822489
2GBX2_23144817_ChIP-Seq_PC3_Human3.36818925
3ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.74819713
4NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.32868959
5TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.30697240
6GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.19904815
7DROSHA_22980978_ChIP-Seq_HELA_Human2.17565613
8SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.12539926
9REST_21632747_ChIP-Seq_MESCs_Mouse2.09290008
10SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.09030196
11JARID2_20064375_ChIP-Seq_MESCs_Mouse2.00347554
12VDR_22108803_ChIP-Seq_LS180_Human1.95558268
13EZH2_27304074_Chip-Seq_ESCs_Mouse1.92854528
14SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.92755989
15RNF2_18974828_ChIP-Seq_MESCs_Mouse1.92447871
16EZH2_18974828_ChIP-Seq_MESCs_Mouse1.92447871
17TAF15_26573619_Chip-Seq_HEK293_Human1.88951254
18ZFP57_27257070_Chip-Seq_ESCs_Mouse1.84981532
19RNF2_27304074_Chip-Seq_ESCs_Mouse1.76273752
20JARID2_20075857_ChIP-Seq_MESCs_Mouse1.75317689
21CTBP2_25329375_ChIP-Seq_LNCAP_Human1.74453141
22GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.71603121
23SMAD4_21799915_ChIP-Seq_A2780_Human1.69813357
24EZH2_27294783_Chip-Seq_ESCs_Mouse1.69134496
25SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.67811011
26SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.67632995
27AR_21572438_ChIP-Seq_LNCaP_Human1.65661576
28MTF2_20144788_ChIP-Seq_MESCs_Mouse1.63962715
29PIAS1_25552417_ChIP-Seq_VCAP_Human1.61635112
30PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.61610240
31SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.58783867
32EED_16625203_ChIP-ChIP_MESCs_Mouse1.58342011
33SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.58061649
34CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.57482390
35CDX2_19796622_ChIP-Seq_MESCs_Mouse1.56889435
36EP300_21415370_ChIP-Seq_HL-1_Mouse1.56313094
37SUZ12_27294783_Chip-Seq_ESCs_Mouse1.53818293
38IGF1R_20145208_ChIP-Seq_DFB_Human1.52079792
39REST_18959480_ChIP-ChIP_MESCs_Mouse1.50415568
40CTBP1_25329375_ChIP-Seq_LNCAP_Human1.50075444
41ZNF217_24962896_ChIP-Seq_MCF-7_Human1.49994185
42P300_19829295_ChIP-Seq_ESCs_Human1.49184766
43POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.48874748
44TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.48874748
45RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.48380255
46RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.45769053
47PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.44112651
48AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.43721097
49SMAD3_21741376_ChIP-Seq_EPCs_Human1.43628986
50RARB_27405468_Chip-Seq_BRAIN_Mouse1.43273554
51RBPJ_22232070_ChIP-Seq_NCS_Mouse1.41474480
52CBX2_27304074_Chip-Seq_ESCs_Mouse1.38566498
53SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.38115742
54TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.36500166
55STAT3_23295773_ChIP-Seq_U87_Human1.31849126
56ESR1_20079471_ChIP-ChIP_T-47D_Human1.31683929
57TCF4_23295773_ChIP-Seq_U87_Human1.31282263
58TOP2B_26459242_ChIP-Seq_MCF-7_Human1.31267540
59FUS_26573619_Chip-Seq_HEK293_Human1.30690092
60SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.29405945
61SOX2_21211035_ChIP-Seq_LN229_Gbm1.29324885
62SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.29202720
63CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.28256411
64AR_19668381_ChIP-Seq_PC3_Human1.27995977
65POU3F2_20337985_ChIP-ChIP_501MEL_Human1.24388928
66CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.24097517
67OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.22652712
68WT1_25993318_ChIP-Seq_PODOCYTE_Human1.22228610
69CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.20871695
70TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.20588174
71NR3C1_23031785_ChIP-Seq_PC12_Mouse1.20587649
72MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.20310767
73YAP1_20516196_ChIP-Seq_MESCs_Mouse1.19884073
74RNF2_27304074_Chip-Seq_NSC_Mouse1.19508045
75NR3C1_21868756_ChIP-Seq_MCF10A_Human1.17873481
76ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.15684337
77BMI1_23680149_ChIP-Seq_NPCS_Mouse1.14414801
78CTNNB1_20460455_ChIP-Seq_HCT116_Human1.14268926
79EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.13612298
80BCAT_22108803_ChIP-Seq_LS180_Human1.12451611
81AHR_22903824_ChIP-Seq_MCF-7_Human1.11625376
82ZNF274_21170338_ChIP-Seq_K562_Hela1.10654178
83RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.09978028
84LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.09875363
85SMAD3_21741376_ChIP-Seq_ESCs_Human1.09723615
86PCGF2_27294783_Chip-Seq_NPCs_Mouse1.09117164
87SMAD3_21741376_ChIP-Seq_HESCs_Human1.08796489
88ISL1_27105846_Chip-Seq_CPCs_Mouse1.08429816
89AR_25329375_ChIP-Seq_VCAP_Human1.07973941
90ARNT_22903824_ChIP-Seq_MCF-7_Human1.06350905
91RING1B_27294783_Chip-Seq_ESCs_Mouse1.05272874
92GATA1_26923725_Chip-Seq_HPCs_Mouse1.05226221
93SMAD4_21741376_ChIP-Seq_HESCs_Human1.04208269
94MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.03925866
95CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.03562428
96TBX3_20139965_ChIP-Seq_MESCs_Mouse1.02343491
97TBX3_20139965_ChIP-Seq_ESCs_Mouse1.02294427
98RUNX2_22187159_ChIP-Seq_PCA_Human1.01684992
99KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.01013296
100PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.00911169

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity3.47465641
2MP0004270_analgesia3.24554239
3MP0003880_abnormal_central_pattern2.94502932
4MP0009046_muscle_twitch2.70095411
5MP0000751_myopathy2.61141982
6MP0003635_abnormal_synaptic_transmissio2.55262712
7MP0004084_abnormal_cardiac_muscle2.49869153
8MP0002272_abnormal_nervous_system2.28156986
9MP0002837_dystrophic_cardiac_calcinosis2.27569923
10MP0009745_abnormal_behavioral_response2.25352365
11MP0002064_seizures2.21935660
12MP0001984_abnormal_olfaction2.10702480
13MP0004036_abnormal_muscle_relaxation2.08861655
14MP0002734_abnormal_mechanical_nocicepti2.06444121
15MP0004215_abnormal_myocardial_fiber2.06409126
16MP0001968_abnormal_touch/_nociception2.06165075
17MP0003646_muscle_fatigue2.03688662
18MP0001486_abnormal_startle_reflex1.98349000
19MP0004145_abnormal_muscle_electrophysio1.97480488
20MP0002063_abnormal_learning/memory/cond1.97192410
21MP0005423_abnormal_somatic_nervous1.92253704
22MP0002572_abnormal_emotion/affect_behav1.78998727
23MP0002735_abnormal_chemical_nociception1.73006801
24MP0003137_abnormal_impulse_conducting1.70903067
25MP0000749_muscle_degeneration1.69189533
26MP0009780_abnormal_chondrocyte_physiolo1.66187508
27MP0002736_abnormal_nociception_after1.65672372
28MP0000566_synostosis1.60401095
29MP0001501_abnormal_sleep_pattern1.52168985
30MP0005620_abnormal_muscle_contractility1.50504834
31MP0008569_lethality_at_weaning1.50159254
32MP0002067_abnormal_sensory_capabilities1.47532717
33MP0010386_abnormal_urinary_bladder1.46476641
34MP0002638_abnormal_pupillary_reflex1.44856045
35MP0000778_abnormal_nervous_system1.43437543
36MP0003122_maternal_imprinting1.41343580
37MP0001299_abnormal_eye_distance/1.38402469
38MP0002184_abnormal_innervation1.34579125
39MP0006276_abnormal_autonomic_nervous1.31165485
40MP0003941_abnormal_skin_development1.28516359
41MP0003136_yellow_coat_color1.26282603
42MP0004742_abnormal_vestibular_system1.26027874
43MP0002822_catalepsy1.25063885
44MP0003787_abnormal_imprinting1.24408959
45MP0004085_abnormal_heartbeat1.24237351
46MP0002557_abnormal_social/conspecific_i1.24032458
47MP0001970_abnormal_pain_threshold1.21098622
48MP0000579_abnormal_nail_morphology1.18686882
49MP0004924_abnormal_behavior1.17816501
50MP0005386_behavior/neurological_phenoty1.17816501
51MP0004130_abnormal_muscle_cell1.17668132
52MP0003879_abnormal_hair_cell1.17131354
53MP0004087_abnormal_muscle_fiber1.16974559
54MP0002972_abnormal_cardiac_muscle1.15245977
55MP0001485_abnormal_pinna_reflex1.14707303
56MP0005670_abnormal_white_adipose1.12199460
57MP0000955_abnormal_spinal_cord1.12030058
58MP0001440_abnormal_grooming_behavior1.11611629
59MP0004885_abnormal_endolymph1.10248941
60MP0002106_abnormal_muscle_physiology1.10175810
61MP0002882_abnormal_neuron_morphology1.08324538
62MP0002066_abnormal_motor_capabilities/c1.07116858
63MP0005646_abnormal_pituitary_gland1.05880368
64MP0002733_abnormal_thermal_nociception1.03814352
65MP0005369_muscle_phenotype1.02753576
66MP0005330_cardiomyopathy1.00949707
67MP0004484_altered_response_of0.99676323
68MP0005551_abnormal_eye_electrophysiolog0.96977067
69MP0008775_abnormal_heart_ventricle0.93882497
70MP0002152_abnormal_brain_morphology0.92357222
71MP0004811_abnormal_neuron_physiology0.88593299
72MP0001177_atelectasis0.86729946
73MP0003283_abnormal_digestive_organ0.85852437
74MP0010630_abnormal_cardiac_muscle0.82487839
75MP0003123_paternal_imprinting0.82150143
76MP0002108_abnormal_muscle_morphology0.81365236
77MP0000631_abnormal_neuroendocrine_gland0.80311241
78MP0000569_abnormal_digit_pigmentation0.79565896
79MP0006138_congestive_heart_failure0.79541772
80MP0002752_abnormal_somatic_nervous0.78638682
81MP0001529_abnormal_vocalization0.78500996
82MP0002269_muscular_atrophy0.78099654
83MP0003890_abnormal_embryonic-extraembry0.76758148
84MP0000747_muscle_weakness0.76723777
85MP0001544_abnormal_cardiovascular_syste0.75676934
86MP0005385_cardiovascular_system_phenoty0.75676934
87MP0001502_abnormal_circadian_rhythm0.74938470
88MP0001963_abnormal_hearing_physiology0.74649984
89MP0000750_abnormal_muscle_regeneration0.74450085
90MP0008877_abnormal_DNA_methylation0.74285119
91MP0003861_abnormal_nervous_system0.73916937
92MP0008872_abnormal_physiological_respon0.73289757
93MP0009672_abnormal_birth_weight0.73234437
94MP0002254_reproductive_system_inflammat0.72341675
95MP0002229_neurodegeneration0.71811834
96MP0006072_abnormal_retinal_apoptosis0.71422508
97MP0003121_genomic_imprinting0.70406509
98MP0002909_abnormal_adrenal_gland0.70356165
99MP0003878_abnormal_ear_physiology0.68691014
100MP0005377_hearing/vestibular/ear_phenot0.68691014

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)5.09165749
2Focal motor seizures (HP:0011153)4.93638859
3Febrile seizures (HP:0002373)4.48575733
4Sudden death (HP:0001699)4.34444554
5Atonic seizures (HP:0010819)4.31903552
6Focal seizures (HP:0007359)4.06704081
7Bundle branch block (HP:0011710)3.80607560
8Progressive cerebellar ataxia (HP:0002073)3.49688891
9Action tremor (HP:0002345)3.44947606
10Epileptic encephalopathy (HP:0200134)3.38362627
11Absence seizures (HP:0002121)3.36492537
12Calf muscle hypertrophy (HP:0008981)3.33291826
13Dialeptic seizures (HP:0011146)3.31212945
14Dysmetric saccades (HP:0000641)3.27499804
15Muscle hypertrophy of the lower extremities (HP:0008968)3.20852905
16Syncope (HP:0001279)3.18019964
17Hyporeflexia of lower limbs (HP:0002600)3.07668449
18Abnormality of the calf musculature (HP:0001430)3.07573282
19Gaze-evoked nystagmus (HP:0000640)2.95667283
20Type 1 muscle fiber predominance (HP:0003803)2.90942411
21Exercise-induced muscle cramps (HP:0003710)2.88895017
22Generalized tonic-clonic seizures (HP:0002069)2.80557385
23Broad-based gait (HP:0002136)2.80040988
24Atrial fibrillation (HP:0005110)2.74714531
25Muscle fiber inclusion bodies (HP:0100299)2.73775364
26Hyperventilation (HP:0002883)2.67202694
27Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)2.64585441
28Primary atrial arrhythmia (HP:0001692)2.53950412
29Prolonged QT interval (HP:0001657)2.51411311
30Nemaline bodies (HP:0003798)2.48859922
31Heart block (HP:0012722)2.47837318
32Dysdiadochokinesis (HP:0002075)2.45797888
33Supraventricular tachycardia (HP:0004755)2.37535828
34Exercise-induced myalgia (HP:0003738)2.32067433
35Supraventricular arrhythmia (HP:0005115)2.30944350
36Ventricular tachycardia (HP:0004756)2.28742618
37Muscle fiber splitting (HP:0003555)2.23075038
38Impaired vibration sensation in the lower limbs (HP:0002166)2.18343126
39Drooling (HP:0002307)2.11708880
40Abnormality of the left ventricular outflow tract (HP:0011103)2.11299221
41Subaortic stenosis (HP:0001682)2.11299221
42Abnormal atrioventricular conduction (HP:0005150)2.11277845
43Right ventricular cardiomyopathy (HP:0011663)2.10036799
44Limb dystonia (HP:0002451)2.08091686
45Abnormality of the labia minora (HP:0012880)2.04813151
46Genetic anticipation (HP:0003743)2.02266636
47Dysmetria (HP:0001310)1.98511141
48EMG: myopathic abnormalities (HP:0003458)1.98482639
49EMG: neuropathic changes (HP:0003445)1.97954158
50Cutaneous finger syndactyly (HP:0010554)1.97263216
51Urinary bladder sphincter dysfunction (HP:0002839)1.95393446
52Lipoatrophy (HP:0100578)1.93155724
53Myotonia (HP:0002486)1.91423581
54Dilated cardiomyopathy (HP:0001644)1.90190000
55Hepatoblastoma (HP:0002884)1.88681428
56Bronchomalacia (HP:0002780)1.88089595
57Epileptiform EEG discharges (HP:0011182)1.87871906
58Optic nerve hypoplasia (HP:0000609)1.85442744
59Atrioventricular block (HP:0001678)1.85040643
60Abnormal EKG (HP:0003115)1.83561636
61Status epilepticus (HP:0002133)1.82138972
62Excessive salivation (HP:0003781)1.80589846
63Difficulty running (HP:0009046)1.79607789
64Inability to walk (HP:0002540)1.78878143
65Cutaneous syndactyly (HP:0012725)1.78794565
66Aplasia involving bones of the extremities (HP:0009825)1.78645007
67Aplasia involving bones of the upper limbs (HP:0009823)1.78645007
68Aplasia of the phalanges of the hand (HP:0009802)1.78645007
69Ventricular arrhythmia (HP:0004308)1.78124071
70Broad metatarsal (HP:0001783)1.76971459
71Turricephaly (HP:0000262)1.74605151
72Abnormal social behavior (HP:0012433)1.74467187
73Impaired social interactions (HP:0000735)1.74467187
74EEG with generalized epileptiform discharges (HP:0011198)1.74272450
75Truncal ataxia (HP:0002078)1.74039590
76Ankle clonus (HP:0011448)1.73234285
77Areflexia of lower limbs (HP:0002522)1.72960903
78Rimmed vacuoles (HP:0003805)1.72880369
79Ventricular fibrillation (HP:0001663)1.66456360
80Thyroid-stimulating hormone excess (HP:0002925)1.65378520
81Left ventricular hypertrophy (HP:0001712)1.64975663
82Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.64183259
83Distal arthrogryposis (HP:0005684)1.62772085
84Scanning speech (HP:0002168)1.61020736
85Impaired smooth pursuit (HP:0007772)1.60936020
86Frequent falls (HP:0002359)1.60570338
87Poor eye contact (HP:0000817)1.60499603
88Hypsarrhythmia (HP:0002521)1.57608450
89Septo-optic dysplasia (HP:0100842)1.56307555
90Hyperglycinuria (HP:0003108)1.55983070
91Abnormality of the corticospinal tract (HP:0002492)1.54783186
92Protruding tongue (HP:0010808)1.51080635
93Hemiparesis (HP:0001269)1.50963250
94Maternal diabetes (HP:0009800)1.50746601
95Abnormality of the ischium (HP:0003174)1.50563252
96Sleep apnea (HP:0010535)1.49908586
97Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.49816700
98Hypoplastic ischia (HP:0003175)1.48052579
99Enlarged penis (HP:0000040)1.47173085
100Akinesia (HP:0002304)1.46570428

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MARK13.97078224
2EPHA43.61078888
3CASK3.28858551
4OBSCN3.23709750
5NTRK33.16429072
6FRK2.84740126
7PHKG22.37120260
8PHKG12.37120260
9PINK12.31548155
10FGFR22.16583028
11MAP3K92.10389016
12NTRK21.81058057
13TNIK1.80960527
14DAPK21.79276362
15MYLK1.63944758
16TTN1.59959530
17PIK3CA1.54341672
18MAPK131.49906779
19PAK31.45803050
20EEF2K1.42135898
21DMPK1.39884199
22PAK61.33627174
23MAP3K41.32874497
24BMPR1B1.29535270
25PRKCG1.25508535
26UHMK11.23475584
27LATS21.21027356
28PNCK1.20010405
29MUSK1.19796092
30STK38L1.19519309
31MINK11.19330730
32OXSR11.11072857
33WNK31.09523323
34CAMK2A1.07804632
35CAMK11.07274532
36CDK191.06492556
37PRKCE1.05517367
38SGK4941.01161065
39SGK2231.01161065
40CAMK1G1.00634413
41CDK51.00239964
42TYRO30.96972357
43CAMK2B0.96747583
44DYRK20.94644762
45GRK50.91273718
46PRKD30.90779613
47SGK20.88300357
48CAMK2D0.88086788
49MAPKAPK30.87365949
50PLK20.78564773
51STK110.78547880
52ROCK10.77504932
53NTRK10.76903312
54PRKAA10.74780366
55MAPK120.74403423
56DYRK1A0.70985112
57CAMK2G0.69048910
58CAMK40.68156567
59MAP3K120.63052518
60ACVR1B0.62326816
61CSNK1G20.62060767
62PKN10.60110391
63ROCK20.59493290
64LATS10.59250384
65PRKCZ0.58743518
66MAP2K70.58671990
67MKNK20.58428354
68PRKG10.58252176
69RPS6KA30.57825537
70ZAK0.57725027
71PRKCH0.57506149
72ADRBK20.57319881
73INSRR0.57153939
74STK390.56676385
75SGK10.56461914
76TAF10.55646896
77CAMKK10.55248844
78LMTK20.52530239
79RPS6KB10.52272690
80RIPK10.51308654
81MAP2K40.50758252
82CSNK1D0.48612752
83CSNK1G10.48367342
84CSNK1E0.46589396
85PRKACA0.46450728
86MAP3K70.46256800
87PRKAA20.45556014
88DAPK30.44839692
89CAMK1D0.41792736
90PRKDC0.41568688
91MAP2K10.41321154
92GRK10.41070788
93WNK10.40415047
94DAPK10.40053173
95LIMK10.39806269
96MAPK100.39611283
97CDK150.39563600
98MAPKAPK50.38077384
99CDK180.38043217
100GSK3B0.37320385

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.02422252
2Cardiac muscle contraction_Homo sapiens_hsa042602.38252789
3Circadian entrainment_Homo sapiens_hsa047132.30716371
4Glutamatergic synapse_Homo sapiens_hsa047242.24658046
5GABAergic synapse_Homo sapiens_hsa047272.23132357
6Dilated cardiomyopathy_Homo sapiens_hsa054142.20084187
7Morphine addiction_Homo sapiens_hsa050322.11666221
8Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.07592315
9Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.95261649
10Insulin secretion_Homo sapiens_hsa049111.95162674
11Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.91044155
12Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.86804376
13Amphetamine addiction_Homo sapiens_hsa050311.71575290
14Long-term potentiation_Homo sapiens_hsa047201.67515878
15Taste transduction_Homo sapiens_hsa047421.64456266
16Gastric acid secretion_Homo sapiens_hsa049711.64141607
17Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.61220530
18Dopaminergic synapse_Homo sapiens_hsa047281.60269560
19Long-term depression_Homo sapiens_hsa047301.57815501
20Aldosterone synthesis and secretion_Homo sapiens_hsa049251.57254155
21Calcium signaling pathway_Homo sapiens_hsa040201.56003889
22Cholinergic synapse_Homo sapiens_hsa047251.50234072
23Synaptic vesicle cycle_Homo sapiens_hsa047211.46342314
24Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.44782874
25Salivary secretion_Homo sapiens_hsa049701.41498658
26Nitrogen metabolism_Homo sapiens_hsa009101.39120542
27Oxytocin signaling pathway_Homo sapiens_hsa049211.38346709
28Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.36995405
29Renin secretion_Homo sapiens_hsa049241.31925878
30Butanoate metabolism_Homo sapiens_hsa006501.28595023
31Serotonergic synapse_Homo sapiens_hsa047261.27482434
32Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.25856897
33cGMP-PKG signaling pathway_Homo sapiens_hsa040221.25758998
34Cocaine addiction_Homo sapiens_hsa050301.23542248
35Pancreatic secretion_Homo sapiens_hsa049721.14335292
36Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.12892823
37Vascular smooth muscle contraction_Homo sapiens_hsa042701.12254541
38Gap junction_Homo sapiens_hsa045401.11379306
39cAMP signaling pathway_Homo sapiens_hsa040241.09261784
40Tight junction_Homo sapiens_hsa045301.08814701
41Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.03894529
42Circadian rhythm_Homo sapiens_hsa047101.01681267
43Melanogenesis_Homo sapiens_hsa049160.99796040
442-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.99414295
45Arginine and proline metabolism_Homo sapiens_hsa003300.99381191
46Thyroid hormone synthesis_Homo sapiens_hsa049180.95887087
47Phototransduction_Homo sapiens_hsa047440.95632896
48Olfactory transduction_Homo sapiens_hsa047400.95002496
49Bile secretion_Homo sapiens_hsa049760.94092262
50Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.92380373
51Phosphatidylinositol signaling system_Homo sapiens_hsa040700.90734894
52Propanoate metabolism_Homo sapiens_hsa006400.89464530
53Glucagon signaling pathway_Homo sapiens_hsa049220.87996235
54Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.87386666
55Estrogen signaling pathway_Homo sapiens_hsa049150.85662063
56Arginine biosynthesis_Homo sapiens_hsa002200.85405623
57Axon guidance_Homo sapiens_hsa043600.82751039
58Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.82737079
59Hippo signaling pathway_Homo sapiens_hsa043900.76297105
60Vitamin B6 metabolism_Homo sapiens_hsa007500.74248030
61Histidine metabolism_Homo sapiens_hsa003400.73889071
62Alzheimers disease_Homo sapiens_hsa050100.72608318
63Tryptophan metabolism_Homo sapiens_hsa003800.70558313
64Fatty acid degradation_Homo sapiens_hsa000710.70450501
65ABC transporters_Homo sapiens_hsa020100.70147787
66Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.68031890
67Ovarian steroidogenesis_Homo sapiens_hsa049130.67564420
68beta-Alanine metabolism_Homo sapiens_hsa004100.67355529
69Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.67271478
70AMPK signaling pathway_Homo sapiens_hsa041520.64396582
71Thyroid hormone signaling pathway_Homo sapiens_hsa049190.62903536
72Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.62754008
73Oocyte meiosis_Homo sapiens_hsa041140.62689821
74GnRH signaling pathway_Homo sapiens_hsa049120.62387681
75Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.61678503
76Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.61031014
77Lysine degradation_Homo sapiens_hsa003100.59608673
78Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.57002894
79Basal cell carcinoma_Homo sapiens_hsa052170.55804852
80Protein digestion and absorption_Homo sapiens_hsa049740.55342598
81Parkinsons disease_Homo sapiens_hsa050120.55308264
82Hedgehog signaling pathway_Homo sapiens_hsa043400.54729961
83Glioma_Homo sapiens_hsa052140.52633980
84Wnt signaling pathway_Homo sapiens_hsa043100.51975660
85Fatty acid metabolism_Homo sapiens_hsa012120.51617476
86Type II diabetes mellitus_Homo sapiens_hsa049300.50177455
87Cyanoamino acid metabolism_Homo sapiens_hsa004600.49815867
88Pyruvate metabolism_Homo sapiens_hsa006200.49567529
89Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.49465151
90Linoleic acid metabolism_Homo sapiens_hsa005910.48965525
91Primary bile acid biosynthesis_Homo sapiens_hsa001200.48942961
92Oxidative phosphorylation_Homo sapiens_hsa001900.47905045
93Adherens junction_Homo sapiens_hsa045200.44562764
94ECM-receptor interaction_Homo sapiens_hsa045120.43277872
95Longevity regulating pathway - mammal_Homo sapiens_hsa042110.42911837
96alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.42491871
97Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.42398616
98Dorso-ventral axis formation_Homo sapiens_hsa043200.41941218
99Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.41658549
100PPAR signaling pathway_Homo sapiens_hsa033200.41006666

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