HHATL

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





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

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1sarcomere organization (GO:0045214)7.90075262
2actin-myosin filament sliding (GO:0033275)7.12680686
3muscle filament sliding (GO:0030049)7.12680686
4cardiac myofibril assembly (GO:0055003)6.76063132
5myofibril assembly (GO:0030239)6.73931359
6negative regulation of potassium ion transmembrane transporter activity (GO:1901017)6.59498391
7positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)6.53677273
8regulation of skeletal muscle contraction (GO:0014819)6.48644971
9negative regulation of potassium ion transmembrane transport (GO:1901380)6.25470480
10regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)6.22414080
11plasma membrane repair (GO:0001778)6.15471398
12sarcoplasmic reticulum calcium ion transport (GO:0070296)5.90446534
13actin-mediated cell contraction (GO:0070252)5.85281495
14cardiac muscle contraction (GO:0060048)5.80420045
15regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)5.77126915
16regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO5.72283682
17regulation of actin filament-based movement (GO:1903115)5.46177311
18tricarboxylic acid cycle (GO:0006099)5.44803418
19regulation of relaxation of muscle (GO:1901077)5.41788322
20regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.31268084
21striated muscle contraction (GO:0006941)5.21012471
22regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)5.15883544
23regulation of cell communication by electrical coupling (GO:0010649)5.08335003
24actomyosin structure organization (GO:0031032)5.06128012
25regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)4.88338563
26cardiac muscle cell development (GO:0055013)4.87719450
27ventricular cardiac muscle cell action potential (GO:0086005)4.71567900
28regulation of membrane repolarization (GO:0060306)4.70116478
29adult heart development (GO:0007512)4.68878395
30creatine metabolic process (GO:0006600)4.65667860
31skeletal muscle contraction (GO:0003009)4.63414005
32cardiac cell development (GO:0055006)4.58701838
33carnitine shuttle (GO:0006853)4.58670035
34cardiac muscle tissue morphogenesis (GO:0055008)4.52614592
35response to stimulus involved in regulation of muscle adaptation (GO:0014874)4.49285834
36regulation of striated muscle contraction (GO:0006942)4.48337993
37regulation of acyl-CoA biosynthetic process (GO:0050812)4.46253982
38actin filament-based movement (GO:0030048)4.36319928
39ventricular cardiac muscle tissue morphogenesis (GO:0055010)4.28683361
40detection of calcium ion (GO:0005513)4.24183274
41cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.23781850
42cardiac muscle hypertrophy (GO:0003300)4.21524743
43heart trabecula formation (GO:0060347)4.19536286
44regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)4.17972987
45mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.14286810
46positive regulation of calcium ion transmembrane transporter activity (GO:1901021)4.14245301
47muscle tissue morphogenesis (GO:0060415)4.12375508
48striated muscle hypertrophy (GO:0014897)4.08124974
49negative regulation of protein localization to cell surface (GO:2000009)4.05026817
50cell communication involved in cardiac conduction (GO:0086065)4.03531308
51regulation of coenzyme metabolic process (GO:0051196)4.02501679
52regulation of cofactor metabolic process (GO:0051193)4.02501679
53heart contraction (GO:0060047)3.94127420
54heart process (GO:0003015)3.94127420
55regulation of sarcomere organization (GO:0060297)3.93763289
56mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.90202665
57bundle of His cell to Purkinje myocyte communication (GO:0086069)3.83539697
58fatty acid transmembrane transport (GO:1902001)3.82168991
59regulation of calcium ion transmembrane transport (GO:1903169)3.79880006
60regulation of calcium ion transmembrane transporter activity (GO:1901019)3.79880006
61respiratory electron transport chain (GO:0022904)3.77032268
62regulation of cardiac muscle cell contraction (GO:0086004)3.75816380
63cell communication by electrical coupling (GO:0010644)3.75656149
64muscle contraction (GO:0006936)3.73413036
65skeletal muscle adaptation (GO:0043501)3.73144525
66relaxation of cardiac muscle (GO:0055119)3.67191492
67electron transport chain (GO:0022900)3.65156395
68regulation of the force of heart contraction (GO:0002026)3.63609577
69response to inactivity (GO:0014854)3.63456527
70cardiac muscle cell action potential involved in contraction (GO:0086002)3.63297817
71cardiac muscle cell action potential (GO:0086001)3.61495880
72ATP synthesis coupled proton transport (GO:0015986)3.61481181
73energy coupled proton transport, down electrochemical gradient (GO:0015985)3.61481181
74negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.61247923
75negative regulation of calcium ion transmembrane transport (GO:1903170)3.61247923
76regulation of cardiac muscle contraction (GO:0055117)3.60621682
77membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.58241750
78glycogen catabolic process (GO:0005980)3.55737122
79positive regulation of cation channel activity (GO:2001259)3.55269806
80muscle hypertrophy (GO:0014896)3.54073157
81negative regulation of potassium ion transport (GO:0043267)3.49147352
82carnitine transmembrane transport (GO:1902603)3.48949787
83NADH metabolic process (GO:0006734)3.45801261
84regulation of heart rate (GO:0002027)3.44926346
85muscle system process (GO:0003012)3.42903431
86response to epinephrine (GO:0071871)3.42510040
87relaxation of muscle (GO:0090075)3.37589035
88negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.31621357
89glucan catabolic process (GO:0009251)3.31069282
90regulation of ATPase activity (GO:0043462)3.29464510
91regulation of ATP catabolic process (GO:1903289)3.29464510
92striated muscle adaptation (GO:0014888)3.25741921
93cellular response to epinephrine stimulus (GO:0071872)3.25287032
94regulation of sequestering of triglyceride (GO:0010889)3.25276464
95regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.25103530
96oxygen transport (GO:0015671)3.22916543
97regulation of cation channel activity (GO:2001257)3.22565998
98regulation of heart contraction (GO:0008016)3.21812060
992-oxoglutarate metabolic process (GO:0006103)3.21652117
100positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.21640544
101regulation of sulfur metabolic process (GO:0042762)3.21401103
102positive regulation of sodium ion transport (GO:0010765)3.19673450
103amino-acid betaine transport (GO:0015838)3.19431614
104carnitine transport (GO:0015879)3.19431614
105response to muscle activity (GO:0014850)3.19026704
106muscle adaptation (GO:0043500)3.18753097
107striated muscle cell development (GO:0055002)3.17442359
108cardiac muscle adaptation (GO:0014887)3.17249237
109cardiac muscle hypertrophy in response to stress (GO:0014898)3.17249237
110muscle hypertrophy in response to stress (GO:0003299)3.17249237
111potassium ion import (GO:0010107)3.16780522
112muscle fiber development (GO:0048747)3.16233460
113skeletal muscle fiber development (GO:0048741)3.14871352
114positive regulation of potassium ion transmembrane transport (GO:1901381)3.13696262
115positive regulation of heart rate (GO:0010460)3.13674450
116regulation of muscle contraction (GO:0006937)3.11568495
117cardiac conduction (GO:0061337)3.11368812
118sodium ion export (GO:0071436)3.09638485
119regulation of sodium ion transmembrane transport (GO:1902305)3.08005461
120regulation of muscle system process (GO:0090257)3.07709068
121neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)3.07584201
122regulation of voltage-gated calcium channel activity (GO:1901385)3.04786020
123neuronal action potential propagation (GO:0019227)3.00417101
124cellular potassium ion homeostasis (GO:0030007)2.95910211
125activation of protein kinase A activity (GO:0034199)2.94550041

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.86408500
2ESRRB_18555785_ChIP-Seq_MESCs_Mouse3.43206141
3EZH2_22144423_ChIP-Seq_EOC_Human3.34624016
4EP300_21415370_ChIP-Seq_HL-1_Mouse3.34065500
5TBX20_22080862_ChIP-Seq_HEART_Mouse2.81367857
6TBX20_22328084_ChIP-Seq_HEART_Mouse2.81367857
7TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.45067811
8ESR1_20079471_ChIP-ChIP_T-47D_Human2.36218054
9RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.28451017
10THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.05507528
11CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.05358394
12CDX2_19796622_ChIP-Seq_MESCs_Mouse2.04798670
13DROSHA_22980978_ChIP-Seq_HELA_Human2.02583059
14SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.95095881
15ZNF263_19887448_ChIP-Seq_K562_Human1.92563129
16PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.92240416
17RARG_19884340_ChIP-ChIP_MEFs_Mouse1.82624902
18MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.80934527
19BP1_19119308_ChIP-ChIP_Hs578T_Human1.74673447
20SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.74642405
21SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.73733949
22ESR2_21235772_ChIP-Seq_MCF-7_Human1.71876870
23MTF2_20144788_ChIP-Seq_MESCs_Mouse1.71327961
24RNF2_18974828_ChIP-Seq_MESCs_Mouse1.64964914
25EZH2_18974828_ChIP-Seq_MESCs_Mouse1.64964914
26EZH2_27294783_Chip-Seq_ESCs_Mouse1.62736782
27EZH2_27304074_Chip-Seq_ESCs_Mouse1.52292684
28SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.49704634
29EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.47218698
30JARID2_20064375_ChIP-Seq_MESCs_Mouse1.43192938
31JARID2_20075857_ChIP-Seq_MESCs_Mouse1.36257904
32CTCF_27219007_Chip-Seq_Bcells_Human1.35446113
33SUZ12_27294783_Chip-Seq_ESCs_Mouse1.33817760
34AR_21572438_ChIP-Seq_LNCaP_Human1.33343062
35MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.30936440
36TRIM28_21343339_ChIP-Seq_HEK293_Human1.28649479
37TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.27936650
38RARB_27405468_Chip-Seq_BRAIN_Mouse1.27810746
39EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.26109325
40RNF2_27304074_Chip-Seq_ESCs_Mouse1.25139299
41BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.23590050
42ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.23396161
43GATA4_21415370_ChIP-Seq_HL-1_Mouse1.22836616
44REST_21632747_ChIP-Seq_MESCs_Mouse1.22663336
45TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.20481412
46ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.20408737
47NR3C1_23031785_ChIP-Seq_PC12_Mouse1.19422278
48PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.18394114
49RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.17609007
50PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.17200341
51SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.17005317
52SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.16229872
53NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.16224802
54CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.12721642
55DNAJC2_21179169_ChIP-ChIP_NT2_Human1.10867245
56ZNF274_21170338_ChIP-Seq_K562_Hela1.09595318
57NFIB_24661679_ChIP-Seq_LUNG_Mouse1.08985398
58SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.08552787
59EED_16625203_ChIP-ChIP_MESCs_Mouse1.07368676
60WT1_25993318_ChIP-Seq_PODOCYTE_Human1.04442192
61SOX2_21211035_ChIP-Seq_LN229_Gbm1.02759544
62TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.01183997
63PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.98970689
64GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.98111058
65KDM2B_26808549_Chip-Seq_SUP-B15_Human0.98020633
66GATA1_22025678_ChIP-Seq_K562_Human0.97629471
67TP63_22573176_ChIP-Seq_HFKS_Human0.97593768
68ERG_21242973_ChIP-ChIP_JURKAT_Human0.97151303
69FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.93566696
70EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.92095267
71SMAD4_21741376_ChIP-Seq_HESCs_Human0.91935970
72REST_18959480_ChIP-ChIP_MESCs_Mouse0.91364555
73SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.90530899
74TET1_21490601_ChIP-Seq_MESCs_Mouse0.88529571
75LXR_22292898_ChIP-Seq_THP-1_Human0.88212909
76AHR_22903824_ChIP-Seq_MCF-7_Human0.88074009
77* FOXH1_21741376_ChIP-Seq_ESCs_Human0.87417135
78NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.87389961
79KDM2B_26808549_Chip-Seq_K562_Human0.87362655
80SMAD3_21741376_ChIP-Seq_HESCs_Human0.87153181
81RING1B_27294783_Chip-Seq_ESCs_Mouse0.86973758
82AR_19668381_ChIP-Seq_PC3_Human0.86563024
83SMC3_22415368_ChIP-Seq_MEFs_Mouse0.85903313
84CBX2_27304074_Chip-Seq_ESCs_Mouse0.85760519
85ESR1_17901129_ChIP-ChIP_LIVER_Mouse0.85695224
86SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.85223535
87TP53_23651856_ChIP-Seq_MEFs_Mouse0.84464836
88CLOCK_20551151_ChIP-Seq_293T_Human0.84269403
89SMC4_20622854_ChIP-Seq_HELA_Human0.84257664
90* OCT4_20526341_ChIP-Seq_ESCs_Human0.83967895
91CTNNB1_20460455_ChIP-Seq_HCT116_Human0.82472207
92* SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.82268507
93WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.82147603
94SMAD4_21799915_ChIP-Seq_A2780_Human0.82136797
95GATA1_19941826_ChIP-Seq_K562_Human0.82108453
96FOXA2_19822575_ChIP-Seq_HepG2_Human0.82030797
97KLF4_19829295_ChIP-Seq_ESCs_Human0.80380498
98NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.80153990
99ARNT_22903824_ChIP-Seq_MCF-7_Human0.80009667
100RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.79895215
101GATA1_19941827_ChIP-Seq_MEL_Mouse0.79745791
102YAP1_20516196_ChIP-Seq_MESCs_Mouse0.79682057
103ZFP281_18757296_ChIP-ChIP_E14_Mouse0.79603081
104MYC_27129775_Chip-Seq_CORNEA_Mouse0.79106699
105ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.78789323
106DPY_21335234_ChIP-Seq_ESCs_Mouse0.77847378
107GBX2_23144817_ChIP-Seq_PC3_Human0.77685358
108OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.77424809
109NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.76949957
110RUNX1_27514584_Chip-Seq_MCF-7_Human0.76761632
111LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.76679086
112* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.76351884
113GATA1_19941827_ChIP-Seq_MEL86_Mouse0.76079946
114STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.75981937
115TP53_20018659_ChIP-ChIP_R1E_Mouse0.75242602
116NR3C1_21868756_ChIP-Seq_MCF10A_Human0.74834190
117KDM2B_26808549_Chip-Seq_DND41_Human0.74793937
118SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.74409170
119NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.74105851
120NRF2_20460467_ChIP-Seq_MEFs_Mouse0.74105851
121ISL1_27105846_Chip-Seq_CPCs_Mouse0.74045837
122P68_20966046_ChIP-Seq_HELA_Human0.74000078
123TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.72610028

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002837_dystrophic_cardiac_calcinosis6.53492688
2MP0003646_muscle_fatigue6.05316929
3MP0000751_myopathy5.46809194
4MP0004084_abnormal_cardiac_muscle4.60145427
5MP0000749_muscle_degeneration4.42886985
6MP0004036_abnormal_muscle_relaxation4.22351318
7MP0004215_abnormal_myocardial_fiber4.10243738
8MP0004145_abnormal_muscle_electrophysio3.60195899
9MP0005330_cardiomyopathy3.29594828
10MP0004087_abnormal_muscle_fiber3.04422275
11MP0002106_abnormal_muscle_physiology2.82383603
12MP0005620_abnormal_muscle_contractility2.77011740
13MP0002972_abnormal_cardiac_muscle2.74547699
14MP0000750_abnormal_muscle_regeneration2.70303967
15MP0003137_abnormal_impulse_conducting2.67568821
16MP0004130_abnormal_muscle_cell2.59914647
17MP0000747_muscle_weakness2.52782566
18MP0002269_muscular_atrophy2.50041294
19MP0005369_muscle_phenotype2.35252470
20MP0000759_abnormal_skeletal_muscle2.32151874
21MP0008775_abnormal_heart_ventricle2.24501557
22MP0004484_altered_response_of2.18377650
23MP0005385_cardiovascular_system_phenoty2.17504987
24MP0001544_abnormal_cardiovascular_syste2.17504987
25MP0010630_abnormal_cardiac_muscle2.10837212
26MP0006138_congestive_heart_failure1.98229663
27MP0004233_abnormal_muscle_weight1.93905442
28MP0004085_abnormal_heartbeat1.83473843
29MP0005451_abnormal_body_composition1.80759720
30MP0006036_abnormal_mitochondrial_physio1.68498807
31MP0002332_abnormal_exercise_endurance1.62745711
32MP0003221_abnormal_cardiomyocyte_apopto1.51048524
33MP0003828_pulmonary_edema1.49555599
34MP0003950_abnormal_plasma_membrane1.47114935
35MP0005423_abnormal_somatic_nervous1.43789050
36MP0002127_abnormal_cardiovascular_syste1.38479011
37MP0005666_abnormal_adipose_tissue1.32700042
38MP0004510_myositis1.31609108
39MP0002108_abnormal_muscle_morphology1.15195124
40MP0003880_abnormal_central_pattern1.13424755
41MP0004185_abnormal_adipocyte_glucose1.07876188
42MP0004043_abnormal_pH_regulation1.07530591
43MP0004270_analgesia1.01708287
44MP0002234_abnormal_pharynx_morphology1.00056624
45MP0005670_abnormal_white_adipose1.00031284
46MP0003879_abnormal_hair_cell0.97060313
47MP0005375_adipose_tissue_phenotype0.96428283
48MP0006035_abnormal_mitochondrial_morpho0.95122167
49MP0000343_altered_response_to0.94655535
50MP0005165_increased_susceptibility_to0.93062917
51MP0002734_abnormal_mechanical_nocicepti0.91728811
52MP0004147_increased_porphyrin_level0.90903055
53MP0002063_abnormal_learning/memory/cond0.89838527
54MP0002909_abnormal_adrenal_gland0.89613745
55MP0000266_abnormal_heart_morphology0.86535131
56MP0003279_aneurysm0.84242383
57MP0008569_lethality_at_weaning0.82978737
58MP0000013_abnormal_adipose_tissue0.82565020
59MP0005623_abnormal_meninges_morphology0.82320143
60MP0005266_abnormal_metabolism0.80937709
61MP0000733_abnormal_muscle_development0.77667081
62MP0000230_abnormal_systemic_arterial0.76135447
63MP0005167_abnormal_blood-brain_barrier0.75521366
64MP0003329_amyloid_beta_deposits0.74612089
65MP0001984_abnormal_olfaction0.72527445
66MP0003045_fibrosis0.71613307
67MP0003567_abnormal_fetal_cardiomyocyte0.69301115
68MP0002638_abnormal_pupillary_reflex0.68196370
69MP0002572_abnormal_emotion/affect_behav0.68149796
70MP0002971_abnormal_brown_adipose0.66760450
71MP0000003_abnormal_adipose_tissue0.63934297
72MP0001501_abnormal_sleep_pattern0.62917440
73MP0003806_abnormal_nucleotide_metabolis0.61956405
74MP0001502_abnormal_circadian_rhythm0.60184315
75MP0009780_abnormal_chondrocyte_physiolo0.59667226
76MP0002128_abnormal_blood_circulation0.56683311
77MP0001299_abnormal_eye_distance/0.56053702
78MP0002272_abnormal_nervous_system0.55517221
79MP0001485_abnormal_pinna_reflex0.55291441
80MP0004859_abnormal_synaptic_plasticity0.53897183
81MP0008874_decreased_physiological_sensi0.53018234
82MP0001970_abnormal_pain_threshold0.51407190
83MP0004924_abnormal_behavior0.51339766
84MP0005386_behavior/neurological_phenoty0.51339766
85MP0002822_catalepsy0.51241777
86MP0009046_muscle_twitch0.50425127
87MP0002078_abnormal_glucose_homeostasis0.50124885
88MP0005646_abnormal_pituitary_gland0.47958481
89MP0000920_abnormal_myelination0.47823162
90MP0001661_extended_life_span0.46483387
91MP0004858_abnormal_nervous_system0.46427076
92MP0010368_abnormal_lymphatic_system0.44792156
93MP0001440_abnormal_grooming_behavior0.44740952
94MP0004142_abnormal_muscle_tone0.44534262
95MP0005535_abnormal_body_temperature0.44506374
96MP0001529_abnormal_vocalization0.43748500
97MP0003705_abnormal_hypodermis_morpholog0.42565750
98MP0006276_abnormal_autonomic_nervous0.41165123
99MP0003633_abnormal_nervous_system0.41104968
100MP0003635_abnormal_synaptic_transmissio0.40511395
101MP0003631_nervous_system_phenotype0.40140528
102MP0005187_abnormal_penis_morphology0.38941253
103MP0003195_calcinosis0.38820100
104MP0009840_abnormal_foam_cell0.38335786
105MP0002733_abnormal_thermal_nociception0.38299000
106MP0005377_hearing/vestibular/ear_phenot0.36502652
107MP0003878_abnormal_ear_physiology0.36502652
108MP0008961_abnormal_basal_metabolism0.36362688
109MP0003690_abnormal_glial_cell0.36162968
110MP0002067_abnormal_sensory_capabilities0.36142534
111MP0005166_decreased_susceptibility_to0.35899916
112MP0003634_abnormal_glial_cell0.35260389
113MP0002064_seizures0.34555613
114MP0002735_abnormal_chemical_nociception0.34258785
115MP0001486_abnormal_startle_reflex0.34170441
116MP0002229_neurodegeneration0.32924685
117MP0003656_abnormal_erythrocyte_physiolo0.32817623
118MP0003948_abnormal_gas_homeostasis0.32763541
119MP0002066_abnormal_motor_capabilities/c0.32756674
120MP0000767_abnormal_smooth_muscle0.31716930
121MP0009745_abnormal_behavioral_response0.31295904

Predicted human phenotypes

RankGene SetZ-score
1Exercise-induced myalgia (HP:0003738)7.36522548
2Sudden death (HP:0001699)6.83553049
3Calf muscle hypertrophy (HP:0008981)6.73372518
4Exercise-induced muscle cramps (HP:0003710)6.72194564
5Muscle hypertrophy of the lower extremities (HP:0008968)6.65332215
6Muscle fiber splitting (HP:0003555)5.97318523
7Ventricular tachycardia (HP:0004756)5.58562515
8Abnormality of the calf musculature (HP:0001430)5.28863548
9Hyporeflexia of lower limbs (HP:0002600)5.27565838
10Myoglobinuria (HP:0002913)5.17016726
11Atrial fibrillation (HP:0005110)4.84575235
12Subaortic stenosis (HP:0001682)4.70970388
13Abnormality of the left ventricular outflow tract (HP:0011103)4.70970388
14Difficulty running (HP:0009046)4.68051869
15EMG: myopathic abnormalities (HP:0003458)4.53930775
16Primary atrial arrhythmia (HP:0001692)4.50867049
17Muscle fiber inclusion bodies (HP:0100299)4.34079987
18Supraventricular tachycardia (HP:0004755)4.33212569
19Centrally nucleated skeletal muscle fibers (HP:0003687)4.32232380
20Lipoatrophy (HP:0100578)4.24935229
21Supraventricular arrhythmia (HP:0005115)4.23265889
22Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)4.22477114
23Bundle branch block (HP:0011710)4.11261896
24Increased connective tissue (HP:0009025)4.06432976
25Myotonia (HP:0002486)3.99734624
26Asymmetric septal hypertrophy (HP:0001670)3.86937304
27Prolonged QT interval (HP:0001657)3.81018435
28Syncope (HP:0001279)3.80125382
29Rhabdomyolysis (HP:0003201)3.75957077
30Dilated cardiomyopathy (HP:0001644)3.70452118
31Right ventricular cardiomyopathy (HP:0011663)3.63589917
32Palpitations (HP:0001962)3.63154562
33Type 1 muscle fiber predominance (HP:0003803)3.58990605
34Nemaline bodies (HP:0003798)3.57642021
35Muscle stiffness (HP:0003552)3.51272799
36Heart block (HP:0012722)3.36887497
37Ventricular arrhythmia (HP:0004308)3.29214190
38Ventricular fibrillation (HP:0001663)3.22579001
39Difficulty climbing stairs (HP:0003551)3.17065908
40Abnormal atrioventricular conduction (HP:0005150)3.15727687
41Atrioventricular block (HP:0001678)3.05108760
42Increased variability in muscle fiber diameter (HP:0003557)2.98631855
43Abnormality of skeletal muscle fiber size (HP:0012084)2.85676743
44Acute necrotizing encephalopathy (HP:0006965)2.81298318
45Abnormal mitochondria in muscle tissue (HP:0008316)2.78930021
46Abnormal EKG (HP:0003115)2.74669058
47Left ventricular hypertrophy (HP:0001712)2.72791849
48Neck muscle weakness (HP:0000467)2.71776055
49Distal arthrogryposis (HP:0005684)2.67174704
50Distal lower limb muscle weakness (HP:0009053)2.66858741
51Areflexia of lower limbs (HP:0002522)2.66547737
52Ketoacidosis (HP:0001993)2.62276066
53Hepatic necrosis (HP:0002605)2.55155946
54Round ear (HP:0100830)2.51814348
55Myopathic facies (HP:0002058)2.48580559
56Acute encephalopathy (HP:0006846)2.46829966
57Hepatocellular necrosis (HP:0001404)2.39493290
58Limb-girdle muscle atrophy (HP:0003797)2.37603570
59Hypoplastic ischia (HP:0003175)2.37426397
60Progressive macrocephaly (HP:0004481)2.35487222
61Bulbar palsy (HP:0001283)2.30639212
62Pheochromocytoma (HP:0002666)2.29202807
63Gowers sign (HP:0003391)2.28977451
64Mitochondrial inheritance (HP:0001427)2.25720904
65Abnormality of the foot musculature (HP:0001436)2.22121447
66Foot dorsiflexor weakness (HP:0009027)2.22000280
67Rimmed vacuoles (HP:0003805)2.21117022
68Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.20458733
69EMG: neuropathic changes (HP:0003445)2.19609655
70Calcaneovalgus deformity (HP:0001848)2.18112628
71Muscular dystrophy (HP:0003560)2.14506557
72Palmoplantar keratoderma (HP:0000982)2.13208791
73Abnormality of the ischium (HP:0003174)2.11149684
74Testicular atrophy (HP:0000029)2.11141905
75Increased muscle lipid content (HP:0009058)2.10316837
76Large for gestational age (HP:0001520)2.09615696
77Exercise intolerance (HP:0003546)2.08547737
78Absent phalangeal crease (HP:0006109)2.07864184
79Distal lower limb amyotrophy (HP:0008944)2.07496318
80Myokymia (HP:0002411)2.07180777
81Mildly elevated creatine phosphokinase (HP:0008180)2.06010956
82Increased CSF lactate (HP:0002490)2.03600423
83Neuroendocrine neoplasm (HP:0100634)2.01948928
84Weak cry (HP:0001612)2.01041639
85Cerebral edema (HP:0002181)2.00975950
86Generalized muscle weakness (HP:0003324)1.96671833
87Steppage gait (HP:0003376)1.92419272
88Abnormality of the shoulder girdle musculature (HP:0001435)1.90930365
89Scapular winging (HP:0003691)1.90782754
90Sudden cardiac death (HP:0001645)1.90699168
91Ketosis (HP:0001946)1.90420247
92Hypoglycemic coma (HP:0001325)1.89382571
93Dicarboxylic aciduria (HP:0003215)1.88853002
94Abnormality of dicarboxylic acid metabolism (HP:0010995)1.88853002
95Progressive muscle weakness (HP:0003323)1.88637676
96Deformed tarsal bones (HP:0008119)1.88438246
97Respiratory failure (HP:0002878)1.86252233
98Lactic acidosis (HP:0003128)1.86234551
99Facial diplegia (HP:0001349)1.85989449
100Increased intramyocellular lipid droplets (HP:0012240)1.85265763
101Proximal amyotrophy (HP:0007126)1.83780463
102Dysmetric saccades (HP:0000641)1.82697514
103Fetal akinesia sequence (HP:0001989)1.81361342
104Hyperinsulinemic hypoglycemia (HP:0000825)1.81171256
105Malignant hyperthermia (HP:0002047)1.80580736
106Ulnar deviation of the wrist (HP:0003049)1.78076789
107Hyperkalemia (HP:0002153)1.74479197
108Focal motor seizures (HP:0011153)1.73855015
109Abnormality of fatty-acid metabolism (HP:0004359)1.73523764
110Conjunctival hamartoma (HP:0100780)1.73321891
111Waddling gait (HP:0002515)1.73251990
112Respiratory insufficiency due to muscle weakness (HP:0002747)1.72576902
113Athetosis (HP:0002305)1.72377063
114Lower limb amyotrophy (HP:0007210)1.72227880
115Ragged-red muscle fibers (HP:0003200)1.71771712
116Frequent falls (HP:0002359)1.70975891
117Ankle clonus (HP:0011448)1.70961685
118Limb-girdle muscle weakness (HP:0003325)1.69127233
119Abnormal finger flexion creases (HP:0006143)1.64914586
120Hip contracture (HP:0003273)1.57759452
121Spinal rigidity (HP:0003306)1.55324027
122Abnormality of the neuromuscular junction (HP:0003398)1.53090051
123Fatigable weakness (HP:0003473)1.53090051
124Rapidly progressive (HP:0003678)1.49321236
125Congestive heart failure (HP:0001635)1.48664406
126Slow progression (HP:0003677)1.48413030
127Hypoplastic heart (HP:0001961)1.46568661
128Hypoplastic left heart (HP:0004383)1.46561856
129Abnormality of the tricuspid valve (HP:0001702)1.45598654

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TTN5.84213106
2PHKG25.44393777
3PHKG15.44393777
4OBSCN4.55645724
5LMTK23.82550441
6PDK32.99021106
7PDK42.99021106
8DMPK2.65134558
9MUSK2.63631805
10MYLK2.53844375
11PINK12.45138771
12MARK12.30272548
13TRIB32.21684507
14PIK3CA2.02353127
15BCKDK1.95701206
16NEK11.84601495
17PDK21.84230530
18PKN21.54600513
19NME11.35551637
20DAPK21.31318993
21WNK41.31045370
22PAK31.29089390
23TIE11.26486777
24CAMK2D1.24251352
25MAP3K71.23249204
26LIMK11.21331126
27MAPK121.19242605
28PRKD11.15394836
29STK241.12165832
30WNK11.12019126
31STK391.05093575
32GRK71.02882238
33PKN11.01780591
34PIK3CG0.90960923
35ROCK10.90026452
36MAP2K30.89774247
37EPHB10.88526566
38MAPKAPK30.86132506
39PRKAA10.85297584
40CDC42BPA0.84788101
41PRKD30.83077990
42ROCK20.80770645
43ILK0.80357696
44RIPK10.79825405
45PRKAA20.78192509
46MAP2K40.77009530
47INSRR0.75889837
48TRPM70.75022687
49CAMK2G0.72931075
50CAMK2A0.70222752
51PRPF4B0.69635210
52STK380.67275915
53EEF2K0.66826383
54NTRK20.64308223
55MAPK40.62884424
56DDR20.62811364
57CDK50.58452271
58ARAF0.58390679
59DAPK30.58370570
60SIK10.58089238
61MAP3K40.57912973
62PDPK10.55380174
63MAP3K50.54897581
64MAP3K90.54842250
65MAP2K10.53283763
66ICK0.53026420
67CAMK40.52587503
68PRKACB0.52426583
69PRKCH0.52106837
70MAP3K60.51961722
71PRKCE0.51232491
72PDGFRA0.50489809
73PAK60.50425299
74MAPK100.49508980
75PTK2B0.48601392
76NTRK30.47204274
77PRKACA0.46252010
78MAP3K130.46054567
79MOS0.45628420
80CCNB10.42833071
81EPHA40.42180764
82GRK50.41836396
83PDK10.40353712
84STK38L0.39586164
85CAMK10.39133737
86SGK4940.37563118
87SGK2230.37563118
88UHMK10.35953768
89MAPK130.35243692
90SGK30.34463410
91PRKACG0.34342702
92SGK10.32845638
93RPS6KL10.32414466
94RPS6KC10.32414466
95MAP2K60.32312005
96DYRK1B0.31705940
97CAMKK10.31597040
98STK40.30683613
99PRKG10.30456856
100AKT20.29631350
101KSR20.29500544
102MAP3K10.29324072
103CAMK2B0.28510046
104LATS20.28102921
105MAPK150.27613114
106RPS6KA30.26653154
107NEK90.25995994
108MAP3K30.25816364
109FER0.25359316
110RPS6KA60.25318557
111ZAK0.25067399
112EPHA30.24353574
113NTRK10.24295791
114RET0.23176542
115RPS6KA10.23086910
116MINK10.22791346
117MAP3K110.22327256
118SGK20.20622377
119TAOK10.20227617
120PRKG20.20195204
121MARK20.18430552
122MAPK70.18341720
123WNK30.17867998
124STK110.17160616
125CAMK1G0.17062357

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000204.98094114
2Cardiac muscle contraction_Homo sapiens_hsa042604.13970498
32-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.60439573
4Dilated cardiomyopathy_Homo sapiens_hsa054143.39213300
5Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054103.31566263
6Oxidative phosphorylation_Homo sapiens_hsa001903.08849506
7Parkinsons disease_Homo sapiens_hsa050123.05256738
8Propanoate metabolism_Homo sapiens_hsa006402.97873581
9Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.70565056
10Fatty acid degradation_Homo sapiens_hsa000712.42799604
11Alzheimers disease_Homo sapiens_hsa050102.41640138
12Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.37220297
13Carbon metabolism_Homo sapiens_hsa012002.08408050
14Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.03962109
15Fatty acid metabolism_Homo sapiens_hsa012122.01890597
16Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.00380378
17Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.88184352
18Huntingtons disease_Homo sapiens_hsa050161.86111142
19Pyruvate metabolism_Homo sapiens_hsa006201.74922547
20Fatty acid elongation_Homo sapiens_hsa000621.47397844
21Butanoate metabolism_Homo sapiens_hsa006501.34242239
22Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.32364006
23Viral myocarditis_Homo sapiens_hsa054161.28865259
24Glucagon signaling pathway_Homo sapiens_hsa049221.19833951
25Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.16879937
26Calcium signaling pathway_Homo sapiens_hsa040201.14260813
27Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.13514213
28Synaptic vesicle cycle_Homo sapiens_hsa047211.13297742
29Fatty acid biosynthesis_Homo sapiens_hsa000611.08791643
30Starch and sucrose metabolism_Homo sapiens_hsa005001.08218458
31Adipocytokine signaling pathway_Homo sapiens_hsa049201.04438302
32cGMP-PKG signaling pathway_Homo sapiens_hsa040221.04261584
33Insulin resistance_Homo sapiens_hsa049311.03270443
34Insulin signaling pathway_Homo sapiens_hsa049100.99863969
35Oxytocin signaling pathway_Homo sapiens_hsa049210.99057848
36PPAR signaling pathway_Homo sapiens_hsa033200.98389808
37Gastric acid secretion_Homo sapiens_hsa049710.98219352
38Insulin secretion_Homo sapiens_hsa049110.93537279
39Biosynthesis of amino acids_Homo sapiens_hsa012300.93374532
40Nicotine addiction_Homo sapiens_hsa050330.86608233
41Vascular smooth muscle contraction_Homo sapiens_hsa042700.82116605
42Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.81933364
43Arginine and proline metabolism_Homo sapiens_hsa003300.79937843
44Circadian rhythm_Homo sapiens_hsa047100.79334049
45Circadian entrainment_Homo sapiens_hsa047130.75881479
46Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.75755798
47Type II diabetes mellitus_Homo sapiens_hsa049300.72987652
48Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.72650140
49Renin secretion_Homo sapiens_hsa049240.72298181
50Arginine biosynthesis_Homo sapiens_hsa002200.68520844
51AMPK signaling pathway_Homo sapiens_hsa041520.67985112
52Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.67090256
53Cocaine addiction_Homo sapiens_hsa050300.66090784
54Histidine metabolism_Homo sapiens_hsa003400.65783507
55Pentose phosphate pathway_Homo sapiens_hsa000300.64232733
56Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.64138158
57Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.63707815
58Tight junction_Homo sapiens_hsa045300.63337209
59cAMP signaling pathway_Homo sapiens_hsa040240.63051670
60Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.62002363
61Dorso-ventral axis formation_Homo sapiens_hsa043200.60365270
62Aldosterone synthesis and secretion_Homo sapiens_hsa049250.58161766
63beta-Alanine metabolism_Homo sapiens_hsa004100.56297509
64Focal adhesion_Homo sapiens_hsa045100.55014559
65Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.53505336
66Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.52120823
67Galactose metabolism_Homo sapiens_hsa000520.49856859
68GnRH signaling pathway_Homo sapiens_hsa049120.49843491
69GABAergic synapse_Homo sapiens_hsa047270.49652471
70Long-term depression_Homo sapiens_hsa047300.49469285
71Peroxisome_Homo sapiens_hsa041460.48298700
72Taste transduction_Homo sapiens_hsa047420.47669231
73Salivary secretion_Homo sapiens_hsa049700.47492644
74Cholinergic synapse_Homo sapiens_hsa047250.46061755
75Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.45794350
76Tryptophan metabolism_Homo sapiens_hsa003800.45161189
77Thyroid hormone synthesis_Homo sapiens_hsa049180.44642527
78Thyroid hormone signaling pathway_Homo sapiens_hsa049190.44563364
79Fructose and mannose metabolism_Homo sapiens_hsa000510.44513381
80Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.43052975
81Serotonergic synapse_Homo sapiens_hsa047260.42814895
82Nitrogen metabolism_Homo sapiens_hsa009100.42179947
83Phosphatidylinositol signaling system_Homo sapiens_hsa040700.42098607
84Prion diseases_Homo sapiens_hsa050200.41916225
85Lysine degradation_Homo sapiens_hsa003100.38969374
86Olfactory transduction_Homo sapiens_hsa047400.38654826
87Glutamatergic synapse_Homo sapiens_hsa047240.38557959
88Central carbon metabolism in cancer_Homo sapiens_hsa052300.38440582
89Gap junction_Homo sapiens_hsa045400.38100197
90HIF-1 signaling pathway_Homo sapiens_hsa040660.38089413
91Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.38072297
92Longevity regulating pathway - mammal_Homo sapiens_hsa042110.36898336
93Pancreatic secretion_Homo sapiens_hsa049720.35998126
94Morphine addiction_Homo sapiens_hsa050320.34826390
95Glioma_Homo sapiens_hsa052140.34660036
96Oocyte meiosis_Homo sapiens_hsa041140.32970731
97Regulation of autophagy_Homo sapiens_hsa041400.32548961
98Long-term potentiation_Homo sapiens_hsa047200.32263882
99Carbohydrate digestion and absorption_Homo sapiens_hsa049730.30738445
100Renal cell carcinoma_Homo sapiens_hsa052110.30732379
101mTOR signaling pathway_Homo sapiens_hsa041500.26976717
102Phenylalanine metabolism_Homo sapiens_hsa003600.25689540
103Metabolic pathways_Homo sapiens_hsa011000.24330675
104ECM-receptor interaction_Homo sapiens_hsa045120.24194284
105Dopaminergic synapse_Homo sapiens_hsa047280.23690994
106Bile secretion_Homo sapiens_hsa049760.23681519
107Melanogenesis_Homo sapiens_hsa049160.22745125
108Sulfur metabolism_Homo sapiens_hsa009200.22249760
109MAPK signaling pathway_Homo sapiens_hsa040100.21558811
110Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.21426417
111Amphetamine addiction_Homo sapiens_hsa050310.20912794
112Estrogen signaling pathway_Homo sapiens_hsa049150.20471138
113VEGF signaling pathway_Homo sapiens_hsa043700.20001475
114Amoebiasis_Homo sapiens_hsa051460.19366649
115Ovarian steroidogenesis_Homo sapiens_hsa049130.19134450
116Regulation of actin cytoskeleton_Homo sapiens_hsa048100.18935322
117Phospholipase D signaling pathway_Homo sapiens_hsa040720.16654859
118alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.15633503

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