MCCD1

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
1cellular response to ATP (GO:0071318)9.52500820
2GDP-mannose metabolic process (GO:0019673)8.83169971
3negative regulation of cell aging (GO:0090344)8.65314970
4DNA strand renaturation (GO:0000733)8.64104153
5meiotic chromosome segregation (GO:0045132)8.53904926
6regulation of skeletal muscle contraction (GO:0014819)8.20513344
7G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)8.18383352
8adenosine receptor signaling pathway (GO:0001973)7.89925343
9purinergic nucleotide receptor signaling pathway (GO:0035590)7.65238552
10rRNA methylation (GO:0031167)6.68264811
11lens fiber cell differentiation (GO:0070306)6.46280178
12regulation of synapse structural plasticity (GO:0051823)6.19660702
13protein carboxylation (GO:0018214)6.18234568
14peptidyl-glutamic acid carboxylation (GO:0017187)6.18234568
15positive regulation of protein kinase C signaling (GO:0090037)6.10372550
16purine ribonucleotide transport (GO:0015868)5.91118371
17adenine nucleotide transport (GO:0051503)5.84037344
18rRNA modification (GO:0000154)5.49978099
19response to ATP (GO:0033198)5.49955952
20purinergic receptor signaling pathway (GO:0035587)5.44550654
21urinary tract smooth muscle contraction (GO:0014848)5.43182053
22sensory perception of taste (GO:0050909)5.40086282
23peristalsis (GO:0030432)5.37966209
24nucleotide transmembrane transport (GO:1901679)5.31763981
25transepithelial transport (GO:0070633)5.07762234
26detection of light stimulus involved in visual perception (GO:0050908)5.06741921
27detection of light stimulus involved in sensory perception (GO:0050962)5.06741921
28mitotic cell cycle arrest (GO:0071850)5.05444012
29nucleoside transmembrane transport (GO:1901642)4.97875937
30sex determination (GO:0007530)4.97559669
31negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)4.69843444
32G-protein coupled purinergic receptor signaling pathway (GO:0035588)4.67422205
33regulation of cytokine production involved in inflammatory response (GO:1900015)4.61476525
34purine nucleotide transport (GO:0015865)4.60152651
35melanin biosynthetic process (GO:0042438)4.41345610
36nucleotide-sugar biosynthetic process (GO:0009226)4.39007287
37behavioral response to nicotine (GO:0035095)4.25845086
383-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)4.25533269
39purine ribonucleoside bisphosphate metabolic process (GO:0034035)4.25533269
40regulation of protein kinase A signaling (GO:0010738)4.17141507
41sialylation (GO:0097503)4.15078538
42positive regulation of heat generation (GO:0031652)4.11108416
43histone phosphorylation (GO:0016572)4.09412071
44melanin metabolic process (GO:0006582)4.07863327
45UV protection (GO:0009650)4.05510550
46DNA replication checkpoint (GO:0000076)4.01623057
47regulation of phospholipid biosynthetic process (GO:0071071)3.78470488
48granulocyte differentiation (GO:0030851)3.76737510
49trivalent inorganic anion homeostasis (GO:0072506)3.71831426
50phosphate ion homeostasis (GO:0055062)3.71831426
51positive regulation of catecholamine secretion (GO:0033605)3.66922387
52detection of molecule of bacterial origin (GO:0032490)3.66148300
53sphingomyelin metabolic process (GO:0006684)3.65107624
54regulation of cell aging (GO:0090342)3.64299844
55cellular anion homeostasis (GO:0030002)3.62155825
56positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.62046506
57estrogen biosynthetic process (GO:0006703)3.57270661
58grooming behavior (GO:0007625)3.52767076
59secondary metabolite biosynthetic process (GO:0044550)3.52302309
60cilium or flagellum-dependent cell motility (GO:0001539)3.47321299
61nucleoside transport (GO:0015858)3.46309496
62phosphate ion transmembrane transport (GO:0035435)3.39755733
63phosphatidylglycerol biosynthetic process (GO:0006655)3.36502046
64mannose metabolic process (GO:0006013)3.36293668
65purine nucleoside bisphosphate biosynthetic process (GO:0034033)3.35546188
66ribonucleoside bisphosphate biosynthetic process (GO:0034030)3.35546188
67nucleoside bisphosphate biosynthetic process (GO:0033866)3.35546188
68cardiolipin metabolic process (GO:0032048)3.34291657
69gonadal mesoderm development (GO:0007506)3.32779703
70neuromuscular synaptic transmission (GO:0007274)3.32080832
71regulation of nuclear cell cycle DNA replication (GO:0033262)3.26366928
72renal absorption (GO:0070293)3.22023958
73sphingosine metabolic process (GO:0006670)3.16322212
74negative regulation of interleukin-8 production (GO:0032717)3.15763615
75positive regulation of type I interferon-mediated signaling pathway (GO:0060340)3.10059014
76phosphate ion transport (GO:0006817)3.04158553
77tRNA modification (GO:0006400)3.03908129
78reciprocal meiotic recombination (GO:0007131)3.03664437
79reciprocal DNA recombination (GO:0035825)3.03664437
80sulfur amino acid catabolic process (GO:0000098)2.99775751
81detection of chemical stimulus involved in sensory perception of taste (GO:0050912)2.99657253
82activation of adenylate cyclase activity (GO:0007190)2.99170626
83regulation of heat generation (GO:0031650)2.97634197
84folic acid metabolic process (GO:0046655)2.95570893
85oligosaccharide catabolic process (GO:0009313)2.94873047
86dolichol-linked oligosaccharide biosynthetic process (GO:0006488)2.94410216
87mitochondrion distribution (GO:0048311)2.93275819
88interferon-gamma production (GO:0032609)2.91965794
89diol metabolic process (GO:0034311)2.91022810
90negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)2.88555092
91endocytic recycling (GO:0032456)2.88229440
92negative regulation of Rho protein signal transduction (GO:0035024)2.88100310
93keratinocyte development (GO:0003334)2.83292367
94keratan sulfate biosynthetic process (GO:0018146)2.80419365
95cornea development in camera-type eye (GO:0061303)2.79805628
96triglyceride-rich lipoprotein particle remodeling (GO:0034370)2.78658718
97phosphatidylethanolamine biosynthetic process (GO:0006646)2.76788956
98regulation of hydrogen peroxide metabolic process (GO:0010310)2.74849633
99response to gravity (GO:0009629)2.70766493
100nucleotide transport (GO:0006862)2.70011933

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1VDR_21846776_ChIP-Seq_THP-1_Human4.84436500
2STAT6_21828071_ChIP-Seq_BEAS2B_Human4.75649612
3TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse3.39515001
4P68_20966046_ChIP-Seq_HELA_Human3.13829122
5LXR_22292898_ChIP-Seq_THP-1_Human2.85628593
6CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human2.77671641
7MAF_26560356_Chip-Seq_TH2_Human2.74621751
8VDR_24763502_ChIP-Seq_THP-1_Human2.54877076
9XRN2_22483619_ChIP-Seq_HELA_Human2.50569436
10EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.49159214
11MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human2.37685785
12BCL6_27268052_Chip-Seq_Bcells_Human2.35881827
13MAF_26560356_Chip-Seq_TH1_Human2.35197869
14BCOR_27268052_Chip-Seq_Bcells_Human2.35051730
15E2F1_20622854_ChIP-Seq_HELA_Human2.34949441
16RARG_19884340_ChIP-ChIP_MEFs_Mouse2.30393772
17ERG_21242973_ChIP-ChIP_JURKAT_Human2.29498156
18CTCF_27219007_Chip-Seq_Bcells_Human2.28825878
19DACH1_20351289_ChIP-Seq_MDA-MB-231_Human2.25838600
20CTCF_27219007_Chip-Seq_ERYTHROID_Human2.12436093
21PHF8_20622854_ChIP-Seq_HELA_Human2.08091055
22RACK7_27058665_Chip-Seq_MCF-7_Human2.06757449
23FOXM1_23109430_ChIP-Seq_U2OS_Human2.06504546
24IKZF1_21737484_ChIP-ChIP_HCT116_Human1.99640417
25RARB_24833708_ChIP-Seq_LIVER_Mouse1.94812157
26SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.94102880
27FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.92583668
28RXRA_24833708_ChIP-Seq_LIVER_Mouse1.88919932
29KDM2B_26808549_Chip-Seq_SUP-B15_Human1.88805374
30SMC4_20622854_ChIP-Seq_HELA_Human1.84759862
31RARA_24833708_ChIP-Seq_LIVER_Mouse1.84276538
32CTCF_21964334_Chip-Seq_Bcells_Human1.83558148
33TET1_21451524_ChIP-Seq_MESCs_Mouse1.81717844
34SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.77213512
35KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.75807806
36UTX_26944678_Chip-Seq_JUKART_Human1.75642686
37CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.74480792
38DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.70476596
39* FOXP1_21924763_ChIP-Seq_HESCs_Human1.66205287
40GATA1_22025678_ChIP-Seq_K562_Human1.64212054
41MYC_22102868_ChIP-Seq_BL_Human1.64055539
42SA1_27219007_Chip-Seq_ERYTHROID_Human1.62002150
43E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.59601272
44ELF1_20517297_ChIP-Seq_JURKAT_Human1.59156490
45KDM2B_26808549_Chip-Seq_DND41_Human1.58858752
46CTCF_21964334_ChIP-Seq_BJAB-B_Human1.56031538
47TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.55311626
48CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.54793223
49SRY_22984422_ChIP-ChIP_TESTIS_Rat1.53273580
50SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.51355620
51SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.50240072
52CTCF_20526341_ChIP-Seq_ESCs_Human1.47645816
53TP53_22127205_ChIP-Seq_IMR90_Human1.46221118
54CREB1_26743006_Chip-Seq_LNCaP_Human1.44537853
55YY1_22570637_ChIP-Seq_MALME-3M_Human1.43749257
56TCF7_22412390_ChIP-Seq_EML_Mouse1.42042721
57RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.42032702
58EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.39949887
59FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.38801532
60ERA_21632823_ChIP-Seq_H3396_Human1.36375535
61SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.35826485
62ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.34812676
63CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.34126221
64FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.31944318
65SA1_27219007_Chip-Seq_Bcells_Human1.31898587
66PU.1_20513432_ChIP-Seq_Bcells_Mouse1.30776342
67NOTCH1_21737748_ChIP-Seq_TLL_Human1.30120828
68BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.29666928
69EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.27876358
70ETS1_21867929_ChIP-Seq_TH2_Mouse1.27441680
71PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.24661698
72UBF1/2_26484160_Chip-Seq_HMECs_Human1.24285071
73CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.23150376
74E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.21467188
75ELK3_25401928_ChIP-Seq_HUVEC_Human1.20901765
76PPARA_22158963_ChIP-Seq_LIVER_Mouse1.19998012
77P300_27268052_Chip-Seq_Bcells_Human1.19843084
78NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse1.19103385
79DNAJC2_21179169_ChIP-ChIP_NT2_Human1.18417426
80ATF3_27146783_Chip-Seq_COLON_Human1.16411108
81UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.16179948
82CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.15060922
83PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.12014032
84DCP1A_22483619_ChIP-Seq_HELA_Human1.11848291
85EGR1_23403033_ChIP-Seq_LIVER_Mouse1.11463058
86P53_21459846_ChIP-Seq_SAOS-2_Human1.11453902
87JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse1.10257123
88MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.09666945
89SMC3_22415368_ChIP-Seq_MEFs_Mouse1.09169991
90CIITA_25753668_ChIP-Seq_RAJI_Human1.08695641
91PKCTHETA_26484144_Chip-Seq_BREAST_Human1.07758724
92SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.06425678
93NCOR1_26117541_ChIP-Seq_K562_Human1.06074876
94TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.05433361
95NANOG_20526341_ChIP-Seq_ESCs_Human1.04597453
96TP63_19390658_ChIP-ChIP_HaCaT_Human1.03482456
97OCT4_20526341_ChIP-Seq_ESCs_Human1.03044898
98TP63_22573176_ChIP-Seq_HFKS_Human1.02097420
99TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.01822618
100BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.00807403

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005171_absent_coat_pigmentation7.62168153
2MP0001986_abnormal_taste_sensitivity6.88709772
3MP0005174_abnormal_tail_pigmentation6.53650160
4MP0005423_abnormal_somatic_nervous5.94130166
5MP0003136_yellow_coat_color5.93019197
6MP0005409_darkened_coat_color3.96029369
7MP0001188_hyperpigmentation3.46679475
8MP0005083_abnormal_biliary_tract3.14672233
9MP0004381_abnormal_hair_follicle2.81077025
10MP0000015_abnormal_ear_pigmentation2.75825846
11MP0001756_abnormal_urination2.70718519
12MP0001968_abnormal_touch/_nociception2.70407196
13MP0008875_abnormal_xenobiotic_pharmacok2.19688252
14MP0002638_abnormal_pupillary_reflex2.10334221
15MP0001502_abnormal_circadian_rhythm2.06725819
16MP0004043_abnormal_pH_regulation1.94164612
17MP0001661_extended_life_span1.80456644
18MP0000751_myopathy1.78643407
19MP0002736_abnormal_nociception_after1.73567578
20MP0004130_abnormal_muscle_cell1.67109782
21MP0003111_abnormal_nucleus_morphology1.66649426
22MP0000538_abnormal_urinary_bladder1.52883810
23MP0000750_abnormal_muscle_regeneration1.48110399
24MP0000013_abnormal_adipose_tissue1.46489179
25MP0003453_abnormal_keratinocyte_physiol1.39159101
26MP0005076_abnormal_cell_differentiation1.38933304
27MP0005332_abnormal_amino_acid1.33074185
28MP0010386_abnormal_urinary_bladder1.23940505
29MP0003183_abnormal_peptide_metabolism1.21971752
30MP0002735_abnormal_chemical_nociception1.18668209
31MP0005084_abnormal_gallbladder_morpholo1.17659032
32MP0001765_abnormal_ion_homeostasis1.15135899
33MP0002160_abnormal_reproductive_system1.14389257
34MP0005584_abnormal_enzyme/coenzyme_acti1.13864392
35MP0000003_abnormal_adipose_tissue1.07790397
36MP0003693_abnormal_embryo_hatching1.04333770
37MP0005365_abnormal_bile_salt1.03683266
38MP0005551_abnormal_eye_electrophysiolog1.02686163
39MP0009278_abnormal_bone_marrow1.00922296
40MP0001958_emphysema0.97887393
41MP0008057_abnormal_DNA_replication0.96746862
42MP0005330_cardiomyopathy0.94323332
43MP0005410_abnormal_fertilization0.89544700
44MP0003705_abnormal_hypodermis_morpholog0.88432683
45MP0005220_abnormal_exocrine_pancreas0.87893724
46MP0001664_abnormal_digestion0.87601919
47MP0009643_abnormal_urine_homeostasis0.84539459
48MP0003195_calcinosis0.82670624
49MP0004019_abnormal_vitamin_homeostasis0.82435067
50MP0003448_altered_tumor_morphology0.80110776
51MP0002136_abnormal_kidney_physiology0.77528051
52MP0002928_abnormal_bile_duct0.76071910
53MP0003303_peritoneal_inflammation0.75692469
54MP0000747_muscle_weakness0.72974564
55MP0003172_abnormal_lysosome_physiology0.71749496
56MP0003077_abnormal_cell_cycle0.70381456
57MP0000470_abnormal_stomach_morphology0.70073507
58MP0004957_abnormal_blastocyst_morpholog0.68933980
59MP0000367_abnormal_coat/_hair0.68045458
60MP0000358_abnormal_cell_content/0.65029038
61MP0005501_abnormal_skin_physiology0.64038559
62MP0002019_abnormal_tumor_incidence0.63966982
63MP0001905_abnormal_dopamine_level0.61975601
64MP0010094_abnormal_chromosome_stability0.61855127
65MP0005377_hearing/vestibular/ear_phenot0.61286352
66MP0003878_abnormal_ear_physiology0.61286352
67MP0003091_abnormal_cell_migration0.58600922
68MP0002075_abnormal_coat/hair_pigmentati0.56389523
69MP0005058_abnormal_lysosome_morphology0.55937867
70MP0001324_abnormal_eye_pigmentation0.55489882
71MP0009384_cardiac_valve_regurgitation0.55058002
72MP0001919_abnormal_reproductive_system0.52244234
73MP0009931_abnormal_skin_appearance0.51687887
74MP0002933_joint_inflammation0.50161198
75MP0003656_abnormal_erythrocyte_physiolo0.50000802
76MP0005253_abnormal_eye_physiology0.49124706
77MP0002909_abnormal_adrenal_gland0.48970131
78MP0008961_abnormal_basal_metabolism0.48661748
79MP0010771_integument_phenotype0.48382091
80MP0001970_abnormal_pain_threshold0.45579105
81MP0002254_reproductive_system_inflammat0.43343779
82MP0001873_stomach_inflammation0.42282643
83MP0003137_abnormal_impulse_conducting0.41932113
84MP0002095_abnormal_skin_pigmentation0.41160372
85MP0005389_reproductive_system_phenotype0.40309954
86MP0001191_abnormal_skin_condition0.40298320
87MP0002118_abnormal_lipid_homeostasis0.39616264
88MP0003632_abnormal_nervous_system0.38166306
89MP0008874_decreased_physiological_sensi0.37836828
90MP0004215_abnormal_myocardial_fiber0.36704447
91MP0004197_abnormal_fetal_growth/weight/0.32912068
92MP0009840_abnormal_foam_cell0.30679173
93MP0008770_decreased_survivor_rate0.28323846
94MP0005448_abnormal_energy_balance0.28168076
95MP0001186_pigmentation_phenotype0.27957509
96MP0005375_adipose_tissue_phenotype0.27587700
97MP0000371_diluted_coat_color0.26242350
98MP0003806_abnormal_nucleotide_metabolis0.25022645
99MP0009642_abnormal_blood_homeostasis0.24325580
100MP0001348_abnormal_lacrimal_gland0.23675650

Predicted human phenotypes

RankGene SetZ-score
1Rib fusion (HP:0000902)6.47269836
2Testicular atrophy (HP:0000029)5.82736924
3Rectovaginal fistula (HP:0000143)5.70034224
4Rectal fistula (HP:0100590)5.70034224
5Intestinal fistula (HP:0100819)5.47912680
6Poikiloderma (HP:0001029)5.22957209
7Vaginal fistula (HP:0004320)5.20799518
8Attenuation of retinal blood vessels (HP:0007843)5.15710320
9Aplasia/Hypoplasia involving the carpal bones (HP:0006502)5.14632807
10Dyschromatopsia (HP:0007641)4.90887075
11Annular pancreas (HP:0001734)4.74525212
12Popliteal pterygium (HP:0009756)4.61801944
13Thin bony cortex (HP:0002753)4.59474514
14Facial hemangioma (HP:0000329)4.57129646
15Ulnar bowing (HP:0003031)4.53945633
16Congenital stationary night blindness (HP:0007642)4.53213156
17Facial diplegia (HP:0001349)4.22345590
18Abnormality of the intrinsic pathway (HP:0010989)4.19209081
19Turricephaly (HP:0000262)4.03282233
20Aplasia of the musculature (HP:0100854)3.96943947
21Akinesia (HP:0002304)3.95955903
22Coronal craniosynostosis (HP:0004440)3.86747278
23Squamous cell carcinoma (HP:0002860)3.76224928
24Fetal akinesia sequence (HP:0001989)3.74120241
25Chorioretinal atrophy (HP:0000533)3.68780183
26Bony spicule pigmentary retinopathy (HP:0007737)3.68630735
27Delayed epiphyseal ossification (HP:0002663)3.59147655
28Joint hemorrhage (HP:0005261)3.57835994
29Short chin (HP:0000331)3.57277894
30Prolonged partial thromboplastin time (HP:0003645)3.52088327
31Hemorrhage of the eye (HP:0011885)3.34909974
32Patellar aplasia (HP:0006443)3.34871752
33Anteriorly placed anus (HP:0001545)3.31904940
34Choroideremia (HP:0001139)3.17276492
35Mesangial abnormality (HP:0001966)3.16605687
36Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.10826227
37Aplasia/Hypoplasia of the patella (HP:0006498)3.09380123
38Amniotic constriction ring (HP:0009775)3.07869953
39Abnormality of placental membranes (HP:0011409)3.07869953
40Premature graying of hair (HP:0002216)3.01405599
41Enlarged epiphyses (HP:0010580)2.97537332
42Abnormality of the costochondral junction (HP:0000919)2.95683323
43Abnormal albumin level (HP:0012116)2.94291474
44Hypoalbuminemia (HP:0003073)2.94291474
45Birth length less than 3rd percentile (HP:0003561)2.91413313
46Hypophosphatemic rickets (HP:0004912)2.74259789
47Capillary hemangiomas (HP:0005306)2.72742232
48Absent thumb (HP:0009777)2.71445846
49Abnormal drinking behavior (HP:0030082)2.70488306
50Polydipsia (HP:0001959)2.70488306
51Decreased central vision (HP:0007663)2.67341365
52Atrioventricular block (HP:0001678)2.65726769
53Choanal stenosis (HP:0000452)2.63450992
54Flat occiput (HP:0005469)2.57569766
55Joint stiffness (HP:0001387)2.54233986
56Increased number of teeth (HP:0011069)2.53721968
57Decreased electroretinogram (ERG) amplitude (HP:0000654)2.48917657
58Male infertility (HP:0003251)2.48363296
59Widely patent fontanelles and sutures (HP:0004492)2.47008797
60Aplasia/Hypoplasia involving the musculature (HP:0001460)2.46803272
61Bowing of the arm (HP:0006488)2.42102259
62Bowed forearm bones (HP:0003956)2.42102259
63Renal Fanconi syndrome (HP:0001994)2.41609590
64Myotonia (HP:0002486)2.39938590
65Short humerus (HP:0005792)2.36498999
66Basal cell carcinoma (HP:0002671)2.30962704
67Absent radius (HP:0003974)2.30822358
68Polyuria (HP:0000103)2.29477467
69Neonatal respiratory distress (HP:0002643)2.27126016
70Malignant hyperthermia (HP:0002047)2.26067112
71Abnormality of the hepatic vasculature (HP:0006707)2.22795874
72Increased hepatocellular lipid droplets (HP:0006565)2.19661939
73Lipid accumulation in hepatocytes (HP:0006561)2.18682291
74Narrow nasal bridge (HP:0000446)2.17564806
75Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.17064497
76Aplasia involving forearm bones (HP:0009822)2.16301495
77Absent forearm bone (HP:0003953)2.16301495
78Urinary glycosaminoglycan excretion (HP:0003541)2.12516832
79Mucopolysacchariduria (HP:0008155)2.12516832
80Neonatal onset (HP:0003623)2.09848483
81Abnormality of polysaccharide metabolism (HP:0011012)2.09482321
82Abnormality of glycosaminoglycan metabolism (HP:0004371)2.09482321
83Abnormality of mucopolysaccharide metabolism (HP:0011020)2.09482321
84Aplasia/hypoplasia of the humerus (HP:0006507)2.07622284
85Cheilitis (HP:0100825)2.07282794
86Hypoplasia of the pons (HP:0012110)2.07159879
87Decreased circulating renin level (HP:0003351)2.03010434
88Abnormal epiphyseal ossification (HP:0010656)2.02880884
89Zonular cataract (HP:0010920)2.02569079
90Thin ribs (HP:0000883)2.02410245
91Breast hypoplasia (HP:0003187)2.02133547
92Abnormality of the common coagulation pathway (HP:0010990)2.02089792
93Abnormal urine output (HP:0012590)2.01123433
94Reduced antithrombin III activity (HP:0001976)1.98536632
95Pendular nystagmus (HP:0012043)1.97776174
96Short thumb (HP:0009778)1.97753995
97Long clavicles (HP:0000890)1.84991549
98Cystic hygroma (HP:0000476)1.84687797
99Myopathic facies (HP:0002058)1.82497051
100Abnormality of the pons (HP:0007361)1.82401405

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAPK158.10136818
2WNK44.86708929
3BLK4.52795133
4TLK14.34559820
5INSRR3.92494423
6ZAK3.20730890
7ACVR1B2.83992585
8MUSK2.60012235
9GRK62.48256888
10TESK22.18778604
11PDK22.11655396
12MAP2K32.07644511
13STK161.86735109
14IRAK21.83377541
15BMPR1B1.74355791
16OXSR11.60415161
17WNK11.55155491
18ZAP701.52015168
19ADRBK11.48800970
20ADRBK21.47890024
21ERN11.26286288
22CCNB11.15870258
23SIK21.15389292
24PDPK11.07539744
25CDK40.99510402
26DYRK1B0.95329430
27STK390.90412113
28CDK60.89225075
29PIM20.87654299
30MAPK110.86578786
31WNK30.86006344
32MELK0.84893735
33RPS6KA50.83158954
34SGK2230.82556076
35SGK4940.82556076
36MAP2K60.80710971
37CSK0.78889773
38SIK10.77647307
39IRAK40.76759072
40BMX0.72257606
41MAPK120.71498299
42STK110.68663153
43TBK10.68040423
44TRIB30.65998740
45PRKD10.62968153
46TGFBR10.62841805
47NEK20.60366586
48PRKD20.58663976
49DAPK20.58491181
50AKT30.57756522
51CDK150.57736448
52AURKA0.57555655
53MAP2K40.56367003
54RPS6KA60.55479678
55IKBKE0.54680472
56DYRK30.54593592
57SYK0.52223163
58CDK180.51092305
59IKBKB0.49497578
60RPS6KA20.47896882
61CDK11A0.47569894
62CDK120.47566235
63STK380.46131156
64CSNK1D0.44781073
65PRKAA10.43474807
66CHEK20.43198697
67RPS6KL10.40001854
68RPS6KC10.40001854
69ATR0.39952782
70ICK0.39431962
71STK40.39367191
72PIM10.39019515
73SGK30.38200386
74FRK0.37021684
75NEK60.37019097
76SGK20.36899751
77MTOR0.36214063
78MST1R0.36091829
79MAPK80.35967359
80RAF10.35609462
81PAK10.33697266
82HIPK20.31671523
83MAP2K10.29167241
84CDK140.28672321
85PRKCQ0.28243188
86LYN0.27713156
87MARK20.25730937
88MAP3K30.25064700
89MAP4K10.24993555
90CHUK0.23186478
91TIE10.23068690
92MAP3K60.22457314
93AKT20.20827574
94NEK90.20738516
95GRK10.20041723
96PLK10.19837818
97MET0.16522999
98PRKG10.13498469
99BRSK20.13070241
100SGK10.12957465

Predicted pathways (KEGG)

RankGene SetZ-score
1Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006048.21902495
2Sulfur relay system_Homo sapiens_hsa041225.39245662
3Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001305.32528103
4Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005333.92463152
5Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006033.07411298
6Glycosaminoglycan degradation_Homo sapiens_hsa005312.74778253
7Fructose and mannose metabolism_Homo sapiens_hsa000512.71331603
8Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.27082697
9Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.93443614
10Fanconi anemia pathway_Homo sapiens_hsa034601.75278227
11Sphingolipid metabolism_Homo sapiens_hsa006001.74076140
12Circadian rhythm_Homo sapiens_hsa047101.71754141
13Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.67386538
14Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.65046534
15Taste transduction_Homo sapiens_hsa047421.64280667
16Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.63708243
17Systemic lupus erythematosus_Homo sapiens_hsa053221.46247519
18Vitamin digestion and absorption_Homo sapiens_hsa049771.38846275
19Alcoholism_Homo sapiens_hsa050341.33679167
20Hedgehog signaling pathway_Homo sapiens_hsa043401.27381659
21Inositol phosphate metabolism_Homo sapiens_hsa005621.00384403
22Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.95950423
23Other glycan degradation_Homo sapiens_hsa005110.93796062
24Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.90029615
25Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.84580002
26Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.84214576
27Lysine degradation_Homo sapiens_hsa003100.82117131
28Carbohydrate digestion and absorption_Homo sapiens_hsa049730.81803079
29Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.79526157
30Lysosome_Homo sapiens_hsa041420.79045495
31Ovarian steroidogenesis_Homo sapiens_hsa049130.78127058
32Calcium signaling pathway_Homo sapiens_hsa040200.77746066
33Nicotine addiction_Homo sapiens_hsa050330.75972806
34Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.74797363
35Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.73431131
36Hippo signaling pathway_Homo sapiens_hsa043900.59851344
37RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.58285393
38Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.57382589
39Dorso-ventral axis formation_Homo sapiens_hsa043200.55948998
40Homologous recombination_Homo sapiens_hsa034400.52646617
41Nitrogen metabolism_Homo sapiens_hsa009100.51853187
42Bladder cancer_Homo sapiens_hsa052190.50963197
43Primary bile acid biosynthesis_Homo sapiens_hsa001200.49482816
44Melanogenesis_Homo sapiens_hsa049160.48818309
45Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.48269161
46Insulin resistance_Homo sapiens_hsa049310.47247675
47Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.46888585
48Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.46614482
49mTOR signaling pathway_Homo sapiens_hsa041500.46211172
50Chemical carcinogenesis_Homo sapiens_hsa052040.43379382
51Basal cell carcinoma_Homo sapiens_hsa052170.43191013
52Cocaine addiction_Homo sapiens_hsa050300.43113311
53RNA polymerase_Homo sapiens_hsa030200.40499373
54Steroid hormone biosynthesis_Homo sapiens_hsa001400.39896344
55NOD-like receptor signaling pathway_Homo sapiens_hsa046210.39491018
56Maturity onset diabetes of the young_Homo sapiens_hsa049500.38327406
57Phosphatidylinositol signaling system_Homo sapiens_hsa040700.37537486
58Glycerophospholipid metabolism_Homo sapiens_hsa005640.37351009
59Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.36316005
60Arginine biosynthesis_Homo sapiens_hsa002200.35773786
61ABC transporters_Homo sapiens_hsa020100.35441688
62Endocytosis_Homo sapiens_hsa041440.34203112
63Gap junction_Homo sapiens_hsa045400.33971441
64Hematopoietic cell lineage_Homo sapiens_hsa046400.33869991
65Pyruvate metabolism_Homo sapiens_hsa006200.33710411
66Viral carcinogenesis_Homo sapiens_hsa052030.33258998
67FoxO signaling pathway_Homo sapiens_hsa040680.32192934
68Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.31575080
69Cell cycle_Homo sapiens_hsa041100.31398369
70Fat digestion and absorption_Homo sapiens_hsa049750.30869052
71Basal transcription factors_Homo sapiens_hsa030220.29707552
72alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.29084448
73Adipocytokine signaling pathway_Homo sapiens_hsa049200.29058721
74Notch signaling pathway_Homo sapiens_hsa043300.25083747
75TGF-beta signaling pathway_Homo sapiens_hsa043500.25064212
76Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.24825369
77Intestinal immune network for IgA production_Homo sapiens_hsa046720.24233498
78Glycerolipid metabolism_Homo sapiens_hsa005610.23821022
79Jak-STAT signaling pathway_Homo sapiens_hsa046300.23235130
80Bile secretion_Homo sapiens_hsa049760.21636503
81VEGF signaling pathway_Homo sapiens_hsa043700.21040193
82Phototransduction_Homo sapiens_hsa047440.20690015
83Hepatitis C_Homo sapiens_hsa051600.20653826
84MAPK signaling pathway_Homo sapiens_hsa040100.20537187
85PPAR signaling pathway_Homo sapiens_hsa033200.20524063
86Longevity regulating pathway - mammal_Homo sapiens_hsa042110.20459066
87Tuberculosis_Homo sapiens_hsa051520.17554639
88Toll-like receptor signaling pathway_Homo sapiens_hsa046200.17225117
89Drug metabolism - other enzymes_Homo sapiens_hsa009830.16245516
90Histidine metabolism_Homo sapiens_hsa003400.16029856
91Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.15940689
92Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.15896926
93Primary immunodeficiency_Homo sapiens_hsa053400.15556164
94N-Glycan biosynthesis_Homo sapiens_hsa005100.14803577
95TNF signaling pathway_Homo sapiens_hsa046680.14666936
96Metabolic pathways_Homo sapiens_hsa011000.14547432
97Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.14459103
98Fatty acid degradation_Homo sapiens_hsa000710.11162571
99Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.10001186
100Non-small cell lung cancer_Homo sapiens_hsa052230.09387132

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