SSC5D

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
1protein heterotrimerization (GO:0070208)7.69685600
2collagen fibril organization (GO:0030199)6.92833562
3keratan sulfate catabolic process (GO:0042340)5.91731860
4bone trabecula formation (GO:0060346)5.85063663
5extracellular fibril organization (GO:0043206)5.35576628
6sequestering of extracellular ligand from receptor (GO:0035581)5.28299213
7chondrocyte proliferation (GO:0035988)5.10794977
8collagen metabolic process (GO:0032963)4.85182763
9axon extension involved in axon guidance (GO:0048846)4.77140656
10neuron projection extension involved in neuron projection guidance (GO:1902284)4.77140656
11type B pancreatic cell proliferation (GO:0044342)4.76625433
12endodermal cell differentiation (GO:0035987)4.72964090
13collagen catabolic process (GO:0030574)4.71199358
14fibril organization (GO:0097435)4.64139948
15multicellular organismal macromolecule metabolic process (GO:0044259)4.60609195
16extracellular matrix assembly (GO:0085029)4.45743370
17regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)4.45532104
18plasma membrane repair (GO:0001778)4.44377095
19multicellular organismal catabolic process (GO:0044243)4.36949373
20multicellular organismal metabolic process (GO:0044236)4.34225100
21skin morphogenesis (GO:0043589)4.33309171
22adhesion of symbiont to host cell (GO:0044650)4.18841685
23virion attachment to host cell (GO:0019062)4.18841685
24tooth mineralization (GO:0034505)4.13383898
25basement membrane organization (GO:0071711)4.05919078
26glomerular basement membrane development (GO:0032836)3.97785978
27extracellular matrix disassembly (GO:0022617)3.95008417
28epithelial cell-cell adhesion (GO:0090136)3.85266350
29cartilage development involved in endochondral bone morphogenesis (GO:0060351)3.67380054
30dermatan sulfate biosynthetic process (GO:0030208)3.66518329
31peptidyl-proline hydroxylation (GO:0019511)3.55615227
32adhesion of symbiont to host (GO:0044406)3.51749228
33metanephric mesenchyme development (GO:0072075)3.51281744
34negative regulation of chondrocyte differentiation (GO:0032331)3.47111604
35cellular response to vitamin (GO:0071295)3.44918876
36planar cell polarity pathway involved in neural tube closure (GO:0090179)3.44312719
37negative regulation of fatty acid transport (GO:2000192)3.39740874
38substrate-dependent cell migration (GO:0006929)3.39294202
39negative regulation of cardiac muscle tissue growth (GO:0055022)3.38790136
40negative regulation of heart growth (GO:0061117)3.38790136
41kidney mesenchyme development (GO:0072074)3.35751703
42trabecula formation (GO:0060343)3.33065717
43dermatan sulfate metabolic process (GO:0030205)3.32068572
44craniofacial suture morphogenesis (GO:0097094)3.31594526
45myelination in peripheral nervous system (GO:0022011)3.30177797
46peripheral nervous system axon ensheathment (GO:0032292)3.30177797
47regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.28794384
48peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)3.28566619
49cardiac myofibril assembly (GO:0055003)3.25326077
50cell migration involved in sprouting angiogenesis (GO:0002042)3.25244819
51protein hydroxylation (GO:0018126)3.22360095
52positive regulation of blood vessel endothelial cell migration (GO:0043536)3.21221996
53cell migration involved in heart development (GO:0060973)3.18864111
54extracellular matrix organization (GO:0030198)3.18363953
55endocardial cushion development (GO:0003197)3.17176165
56extracellular structure organization (GO:0043062)3.16968702
57chondrocyte development (GO:0002063)3.13550108
58protein retention in ER lumen (GO:0006621)3.11501853
59endothelial cell morphogenesis (GO:0001886)3.10822037
60negative regulation of cartilage development (GO:0061037)3.10210376
61outer ear morphogenesis (GO:0042473)3.07916589
62muscle filament sliding (GO:0030049)3.07432828
63actin-myosin filament sliding (GO:0033275)3.07432828
64smooth muscle tissue development (GO:0048745)3.05166646
65positive regulation of endothelial cell apoptotic process (GO:2000353)3.05145200
66glomerular filtration (GO:0003094)3.04899745
67regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.03899653
68stress fiber assembly (GO:0043149)3.03859519
69positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr3.01907457
70regulation of plasminogen activation (GO:0010755)3.00097410
71vascular endothelial growth factor signaling pathway (GO:0038084)2.99319887
72endothelial cell chemotaxis (GO:0035767)2.98121931
73retina vasculature morphogenesis in camera-type eye (GO:0061299)2.97184262
74venous blood vessel morphogenesis (GO:0048845)2.95349420
75barbed-end actin filament capping (GO:0051016)2.94400207
76muscle cell migration (GO:0014812)2.93024625
77negative regulation of axon extension involved in axon guidance (GO:0048843)2.92066050
78maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.91120284
79embryonic cranial skeleton morphogenesis (GO:0048701)2.91079249
80cochlea morphogenesis (GO:0090103)2.90146839
81regulation of extracellular matrix disassembly (GO:0010715)2.90043996
82chondroitin sulfate biosynthetic process (GO:0030206)2.89847081
83heparan sulfate proteoglycan biosynthetic process (GO:0015012)2.88847935
84negative regulation of BMP signaling pathway (GO:0030514)2.87948553
85negative regulation of catenin import into nucleus (GO:0035414)2.87831681
86blood vessel maturation (GO:0001955)2.87830825
87chondroitin sulfate catabolic process (GO:0030207)2.86688376
88regulation of axon extension involved in axon guidance (GO:0048841)2.85967802
89glial cell migration (GO:0008347)2.85906885
90vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.84875512
91camera-type eye morphogenesis (GO:0048593)2.84619125
92cellular response to vitamin D (GO:0071305)2.84224033
93insulin-like growth factor receptor signaling pathway (GO:0048009)2.83925358
94mesenchymal-epithelial cell signaling (GO:0060638)2.83658174
95cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.82252650
96cell-substrate junction assembly (GO:0007044)2.81628005
97cell adhesion mediated by integrin (GO:0033627)2.79622899
98actin-mediated cell contraction (GO:0070252)2.78491721
99Wnt signaling pathway, planar cell polarity pathway (GO:0060071)2.76146955
100apoptotic cell clearance (GO:0043277)2.76076246
101renal filtration (GO:0097205)2.74749088
102regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition 2.74056324
103G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071992.73996709
104non-canonical Wnt signaling pathway (GO:0035567)2.73639275
105paraxial mesoderm development (GO:0048339)2.73623707
106negative regulation of smooth muscle cell migration (GO:0014912)2.73610021
107myofibril assembly (GO:0030239)2.73292832
108cellular response to amino acid stimulus (GO:0071230)2.72910014
109regulation of cartilage development (GO:0061035)2.72722835
110extracellular regulation of signal transduction (GO:1900115)2.72546823
111extracellular negative regulation of signal transduction (GO:1900116)2.72546823
112negative regulation of embryonic development (GO:0045992)2.72408057
113regulation of striated muscle cell apoptotic process (GO:0010662)2.71285121
114sarcomere organization (GO:0045214)2.70786511
115hyaluronan catabolic process (GO:0030214)2.70716739
116substrate adhesion-dependent cell spreading (GO:0034446)2.70709995
117artery morphogenesis (GO:0048844)2.70420801
118positive regulation of fibroblast migration (GO:0010763)2.70417734
119positive regulation of cartilage development (GO:0061036)2.69368062
120hippo signaling (GO:0035329)2.69274059
121wound healing, spreading of epidermal cells (GO:0035313)2.68175874
122regulation of p38MAPK cascade (GO:1900744)2.67788538
123positive regulation of epithelial to mesenchymal transition (GO:0010718)2.67571082
124negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)2.67334421
125negative regulation of leukocyte chemotaxis (GO:0002689)2.67114628
126myoblast migration (GO:0051451)2.65744442
127positive regulation of glycogen biosynthetic process (GO:0045725)2.65105922
128regulation of skeletal muscle contraction (GO:0014819)2.64792008
129middle ear morphogenesis (GO:0042474)2.64650620
130positive regulation of mesenchymal cell proliferation (GO:0002053)2.62696446
131regulation of establishment of planar polarity (GO:0090175)2.62673093
132cell proliferation involved in metanephros development (GO:0072203)2.62404101
133negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)2.61771751
134regulation of cardiac muscle cell apoptotic process (GO:0010665)2.61751382
135pericardium development (GO:0060039)2.61741310
136regulation of chemokine-mediated signaling pathway (GO:0070099)2.61156361
137myoblast fusion (GO:0007520)2.60905958
138regulation of chondrocyte differentiation (GO:0032330)2.60541217
139positive regulation of axon extension (GO:0045773)2.60155100
140regulation of integrin-mediated signaling pathway (GO:2001044)2.59971672
141face morphogenesis (GO:0060325)2.59368237
142protein trimerization (GO:0070206)2.59171231
143atrioventricular valve morphogenesis (GO:0003181)2.57798295
144glycosaminoglycan catabolic process (GO:0006027)2.55821593
145cardiac muscle cell proliferation (GO:0060038)2.53535700

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human5.60370229
2RARG_19884340_ChIP-ChIP_MEFs_Mouse4.16836625
3TP63_17297297_ChIP-ChIP_HaCaT_Human3.39117356
4PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse3.17784834
5* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.87758965
6ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.81889445
7CLOCK_20551151_ChIP-Seq_293T_Human2.69580426
8RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.51318757
9EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.40137884
10NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.33782419
11EP300_21415370_ChIP-Seq_HL-1_Mouse2.23811409
12WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse2.20572102
13CJUN_26792858_Chip-Seq_BT549_Human2.16249669
14CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.07911172
15EZH2_18974828_ChIP-Seq_MESCs_Mouse2.02840027
16RNF2_18974828_ChIP-Seq_MESCs_Mouse2.02840027
17CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.98217997
18EED_16625203_ChIP-ChIP_MESCs_Mouse1.93320542
19HIF1A_21447827_ChIP-Seq_MCF-7_Human1.86904941
20SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.84297616
21CDX2_19796622_ChIP-Seq_MESCs_Mouse1.75322629
22TP53_22127205_ChIP-Seq_IMR90_Human1.73007583
23TP53_20018659_ChIP-ChIP_R1E_Mouse1.72088582
24* ELK3_25401928_ChIP-Seq_HUVEC_Human1.69919736
25SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.69283248
26BRD4_25478319_ChIP-Seq_HGPS_Human1.67175092
27SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.65507594
28WT1_19549856_ChIP-ChIP_CCG9911_Human1.64958088
29MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.63483844
30TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.63287839
31ZFP281_18757296_ChIP-ChIP_E14_Mouse1.61868000
32SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.61404789
33TBX20_22328084_ChIP-Seq_HEART_Mouse1.60505759
34TBX20_22080862_ChIP-Seq_HEART_Mouse1.60505759
35PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.59394183
36ESR2_21235772_ChIP-Seq_MCF-7_Human1.58022126
37KDM2B_26808549_Chip-Seq_SUP-B15_Human1.57248319
38EZH2_27304074_Chip-Seq_ESCs_Mouse1.54530399
39JARID2_20075857_ChIP-Seq_MESCs_Mouse1.53007797
40DROSHA_22980978_ChIP-Seq_HELA_Human1.52667887
41SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.49690638
42ESR1_21235772_ChIP-Seq_MCF-7_Human1.47182827
43UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.45517667
44SMC1_22415368_ChIP-Seq_MEFs_Mouse1.45448818
45NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.45053540
46NRF2_20460467_ChIP-Seq_MEFs_Mouse1.45053540
47P300_27058665_Chip-Seq_ZR-75-30cells_Human1.43469752
48KDM2B_26808549_Chip-Seq_K562_Human1.41325242
49SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.41223747
50NFIB_24661679_ChIP-Seq_LUNG_Mouse1.40990748
51TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.39171612
52EGR1_19374776_ChIP-ChIP_THP-1_Human1.38677967
53ISL1_27105846_Chip-Seq_CPCs_Mouse1.36291703
54PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.35171549
55TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.34521148
56MTF2_20144788_ChIP-Seq_MESCs_Mouse1.34268318
57EZH2_22144423_ChIP-Seq_EOC_Human1.34004125
58THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.33266215
59STAT6_21828071_ChIP-Seq_BEAS2B_Human1.33162041
60RNF2_27304074_Chip-Seq_ESCs_Mouse1.32017651
61SOX9_24532713_ChIP-Seq_HFSC_Mouse1.31532930
62AR_21572438_ChIP-Seq_LNCaP_Human1.28944770
63TP53_23651856_ChIP-Seq_MEFs_Mouse1.28459814
64EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.28046401
65LXR_22292898_ChIP-Seq_THP-1_Human1.26761703
66MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.26560294
67DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.24673554
68GATA2_21666600_ChIP-Seq_HMVEC_Human1.24572157
69UBF1/2_26484160_Chip-Seq_HMECs_Human1.24088952
70TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.20147031
71EZH2_27294783_Chip-Seq_ESCs_Mouse1.19588105
72ZFP281_27345836_Chip-Seq_ESCs_Mouse1.19507519
73BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.19062326
74PPAR_26484153_Chip-Seq_NCI-H1993_Human1.18849760
75PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.16418505
76TP53_16413492_ChIP-PET_HCT116_Human1.16246265
77WT1_25993318_ChIP-Seq_PODOCYTE_Human1.15936477
78* KDM2B_26808549_Chip-Seq_DND41_Human1.14643804
79ESR1_20079471_ChIP-ChIP_T-47D_Human1.13117225
80SMC3_22415368_ChIP-Seq_MEFs_Mouse1.11523712
81CTCF_27219007_Chip-Seq_Bcells_Human1.11344797
82JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.10988665
83JARID2_20064375_ChIP-Seq_MESCs_Mouse1.10716350
84KDM2B_26808549_Chip-Seq_JURKAT_Human1.09969261
85RACK7_27058665_Chip-Seq_MCF-7_Human1.09909763
86ERG_21242973_ChIP-ChIP_JURKAT_Human1.09560883
87RING1B_27294783_Chip-Seq_ESCs_Mouse1.09417004
88NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.08748230
89RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.08693195
90ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.08055788
91TP53_18474530_ChIP-ChIP_U2OS_Human1.07709250
92TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.07553522
93JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.06557191
94STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.06236349
95TET1_21490601_ChIP-Seq_MESCs_Mouse1.05945430
96ZNF217_24962896_ChIP-Seq_MCF-7_Human1.05578355
97SUZ12_27294783_Chip-Seq_ESCs_Mouse1.05309252
98SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.04676594
99TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.02778601
100DNAJC2_21179169_ChIP-ChIP_NT2_Human1.02602393
101CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.02529183
102SA1_22415368_ChIP-Seq_MEFs_Mouse1.02486742
103* ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.02260111
104NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.02035252
105EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.01824891
106SMAD_19615063_ChIP-ChIP_OVARY_Human1.00144038
107ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.99835430
108IKZF1_21737484_ChIP-ChIP_HCT116_Human0.98858582
109HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.97022708
110KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.96738172
111ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.96636871
112TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.96135324
113RING1B_27294783_Chip-Seq_NPCs_Mouse0.95299800
114P63_26484246_Chip-Seq_KERATINOCYTES_Human0.94474431
115CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.94087743
116PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.92354140
117RAD21_21589869_ChIP-Seq_MESCs_Mouse0.92298488
118SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.90920387

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen8.69070571
2MP0005503_abnormal_tendon_morphology6.59227636
3MP0005275_abnormal_skin_tensile6.16754102
4MP0003705_abnormal_hypodermis_morpholog3.49981997
5MP0003279_aneurysm3.40437709
6MP0001958_emphysema3.14172068
7MP0000751_myopathy2.93786381
8MP0005257_abnormal_intraocular_pressure2.82053053
9MP0004272_abnormal_basement_membrane2.58019400
10MP0002108_abnormal_muscle_morphology2.45302854
11MP0005623_abnormal_meninges_morphology2.33641687
12MP0005508_abnormal_skeleton_morphology2.30755805
13MP0002837_dystrophic_cardiac_calcinosis2.12618012
14MP0006054_spinal_hemorrhage2.09947055
15MP0002060_abnormal_skin_morphology1.98213974
16MP0009384_cardiac_valve_regurgitation1.80475792
17MP0000750_abnormal_muscle_regeneration1.63151578
18MP0000733_abnormal_muscle_development1.62881376
19MP0010030_abnormal_orbit_morphology1.61841542
20MP0005171_absent_coat_pigmentation1.60850177
21MP0009250_abnormal_appendicular_skeleto1.55126342
22MP0003283_abnormal_digestive_organ1.51188280
23MP0000749_muscle_degeneration1.50167330
24MP0003566_abnormal_cell_adhesion1.45350307
25MP0003385_abnormal_body_wall1.43908647
26MP0002295_abnormal_pulmonary_circulatio1.36202509
27MP0003950_abnormal_plasma_membrane1.34558815
28MP0002933_joint_inflammation1.34534786
29MP0004084_abnormal_cardiac_muscle1.34389836
30MP0005369_muscle_phenotype1.34027710
31MP0010386_abnormal_urinary_bladder1.32908983
32MP0000534_abnormal_ureter_morphology1.32492499
33MP0004134_abnormal_chest_morphology1.32353689
34MP0000759_abnormal_skeletal_muscle1.30031642
35MP0004087_abnormal_muscle_fiber1.29390989
36MP0009780_abnormal_chondrocyte_physiolo1.27368661
37MP0005390_skeleton_phenotype1.19119269
38MP0002282_abnormal_trachea_morphology1.18059824
39MP0002896_abnormal_bone_mineralization1.17642928
40MP0003091_abnormal_cell_migration1.17593881
41MP0005023_abnormal_wound_healing1.17363966
42MP0004145_abnormal_muscle_electrophysio1.16777024
43MP0000767_abnormal_smooth_muscle1.16749412
44MP0001348_abnormal_lacrimal_gland1.16410970
45MP0002932_abnormal_joint_morphology1.15461123
46MP0000163_abnormal_cartilage_morphology1.13552317
47MP0004233_abnormal_muscle_weight1.12692742
48MP0002106_abnormal_muscle_physiology1.12652291
49MP0003045_fibrosis1.12594405
50MP0001243_abnormal_dermal_layer1.09717526
51MP0000747_muscle_weakness1.08591618
52MP0005076_abnormal_cell_differentiation1.08582249
53MP0000428_abnormal_craniofacial_morphol1.08417362
54MP0001299_abnormal_eye_distance/1.07568770
55MP0010368_abnormal_lymphatic_system1.05036388
56MP0003942_abnormal_urinary_system1.04365497
57MP0003115_abnormal_respiratory_system1.04284838
58MP0002115_abnormal_skeleton_extremities1.02843023
59MP0000013_abnormal_adipose_tissue1.02441661
60MP0004036_abnormal_muscle_relaxation1.01632505
61MP0005330_cardiomyopathy1.00033093
62MP0002168_other_aberrant_phenotype0.97036209
63MP0001542_abnormal_bone_strength0.93965639
64MP0002234_abnormal_pharynx_morphology0.93836324
65MP0002254_reproductive_system_inflammat0.93705010
66MP0002249_abnormal_larynx_morphology0.92293546
67MP0000049_abnormal_middle_ear0.92218117
68MP0002089_abnormal_postnatal_growth/wei0.90304618
69MP0000003_abnormal_adipose_tissue0.85718705
70MP0002269_muscular_atrophy0.84804822
71MP0010630_abnormal_cardiac_muscle0.84547120
72MP0002113_abnormal_skeleton_development0.84136597
73MP0005620_abnormal_muscle_contractility0.84065505
74MP0010352_gastrointestinal_tract_polyps0.81305974
75MP0006138_congestive_heart_failure0.81000784
76MP0005197_abnormal_uvea_morphology0.79801663
77MP0003646_muscle_fatigue0.79521101
78MP0002128_abnormal_blood_circulation0.79065271
79MP0002116_abnormal_craniofacial_bone0.75936358
80MP0008775_abnormal_heart_ventricle0.74769902
81MP0003755_abnormal_palate_morphology0.74763704
82MP0001544_abnormal_cardiovascular_syste0.73997530
83MP0005385_cardiovascular_system_phenoty0.73997530
84MP0001849_ear_inflammation0.73805255
85MP0000538_abnormal_urinary_bladder0.72514164
86MP0005164_abnormal_response_to0.72380539
87MP0001614_abnormal_blood_vessel0.72319218
88MP0000462_abnormal_digestive_system0.72250963
89MP0002109_abnormal_limb_morphology0.70557757
90MP0005595_abnormal_vascular_smooth0.70526724
91MP0003935_abnormal_craniofacial_develop0.70284719
92MP0002998_abnormal_bone_remodeling0.70069164
93MP0002133_abnormal_respiratory_system0.69757925
94MP0005388_respiratory_system_phenotype0.69757925
95MP0001879_abnormal_lymphatic_vessel0.69576574
96MP0004858_abnormal_nervous_system0.69244032
97MP0009053_abnormal_anal_canal0.68036698
98MP0003941_abnormal_skin_development0.66964558
99MP0004215_abnormal_myocardial_fiber0.66365852
100MP0003567_abnormal_fetal_cardiomyocyte0.65064777
101MP0002925_abnormal_cardiovascular_devel0.63807839
102MP0002233_abnormal_nose_morphology0.63287772
103MP0000266_abnormal_heart_morphology0.63174399
104MP0003795_abnormal_bone_structure0.63121569
105MP0002114_abnormal_axial_skeleton0.62503087
106MP0001175_abnormal_lung_morphology0.62177911
107MP0005375_adipose_tissue_phenotype0.62074175
108MP0002972_abnormal_cardiac_muscle0.61493189
109MP0005670_abnormal_white_adipose0.60712179
110MP0000432_abnormal_head_morphology0.60595392
111MP0002877_abnormal_melanocyte_morpholog0.60545037
112MP0005409_darkened_coat_color0.59883739
113MP0003448_altered_tumor_morphology0.59158899
114MP0001270_distended_abdomen0.56722317
115MP0002697_abnormal_eye_size0.56571757
116MP0000762_abnormal_tongue_morphology0.56117230
117MP0001533_abnormal_skeleton_physiology0.55456024
118MP0003122_maternal_imprinting0.55351652
119MP0001756_abnormal_urination0.51470136
120MP0005058_abnormal_lysosome_morphology0.48228919
121MP0000230_abnormal_systemic_arterial0.44451428

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)8.26406709
2Premature rupture of membranes (HP:0001788)7.07645677
3Ankle contracture (HP:0006466)5.74061050
4Type 1 muscle fiber predominance (HP:0003803)5.53393259
5Broad metatarsal (HP:0001783)5.36095179
6Aortic dissection (HP:0002647)4.90311120
7Increased connective tissue (HP:0009025)4.61753747
8Shallow orbits (HP:0000586)4.60712729
9Soft skin (HP:0000977)4.45435417
10Follicular hyperkeratosis (HP:0007502)4.15693478
11Cerebral aneurysm (HP:0004944)4.12313377
12Bladder diverticulum (HP:0000015)4.07770837
13Spinal rigidity (HP:0003306)3.97771084
14Slender build (HP:0001533)3.93739735
15Aortic aneurysm (HP:0004942)3.77827925
16Atrophic scars (HP:0001075)3.76615940
17Increased variability in muscle fiber diameter (HP:0003557)3.72944496
18Fragile skin (HP:0001030)3.67465635
19Wrist flexion contracture (HP:0001239)3.65375729
20Dilatation of the ascending aorta (HP:0005111)3.61631552
21Peritonitis (HP:0002586)3.59923141
22Mildly elevated creatine phosphokinase (HP:0008180)3.52377791
23Mitral valve prolapse (HP:0001634)3.41930569
24Abnormality of skeletal muscle fiber size (HP:0012084)3.38370062
25Cervical subluxation (HP:0003308)3.33738719
26Genu recurvatum (HP:0002816)3.31425264
27Abnormality of dentin (HP:0010299)3.31139174
28Muscle fiber splitting (HP:0003555)3.27752467
29Round ear (HP:0100830)3.20224043
30Blue sclerae (HP:0000592)3.06056429
31Neonatal short-limb short stature (HP:0008921)3.05310762
32Vertebral compression fractures (HP:0002953)3.03290298
33Mild short stature (HP:0003502)3.00356123
34Wormian bones (HP:0002645)3.00344049
35Hyperextensible skin (HP:0000974)2.88186165
36Bowel diverticulosis (HP:0005222)2.76109231
37Joint laxity (HP:0001388)2.75419181
38Striae distensae (HP:0001065)2.73168994
39Biconcave vertebral bodies (HP:0004586)2.69627817
40Flat cornea (HP:0007720)2.68757932
41Aortic valve stenosis (HP:0001650)2.64403315
42Ulnar bowing (HP:0003031)2.61752601
43Spondylolisthesis (HP:0003302)2.61137343
44Vascular tortuosity (HP:0004948)2.59546796
45Ulnar deviation of the wrist (HP:0003049)2.45164564
46Aneurysm (HP:0002617)2.44957198
47Abnormal delivery (HP:0001787)2.43433938
48Elbow flexion contracture (HP:0002987)2.41716111
49Nonimmune hydrops fetalis (HP:0001790)2.35714431
50Hypoventilation (HP:0002791)2.35435307
51Overgrowth (HP:0001548)2.34957226
52Thin bony cortex (HP:0002753)2.33761042
53Mesomelia (HP:0003027)2.33496122
54Abnormality of the acetabulum (HP:0003170)2.31922289
55Generalized amyotrophy (HP:0003700)2.27299749
56Narrow nasal bridge (HP:0000446)2.20896066
57Infantile muscular hypotonia (HP:0008947)2.20473784
58Arterial tortuosity (HP:0005116)2.20451444
59Deviation of the hallux (HP:0010051)2.19859851
60Ectopia lentis (HP:0001083)2.18992754
61Wide anterior fontanel (HP:0000260)2.17788557
62Mitral regurgitation (HP:0001653)2.14883431
63Hyporeflexia of lower limbs (HP:0002600)2.12998124
64Broad ribs (HP:0000885)2.12994156
65Limb-girdle muscle weakness (HP:0003325)2.12532578
66Ovoid vertebral bodies (HP:0003300)2.11314974
67Hallux valgus (HP:0001822)2.09075236
68Disproportionate tall stature (HP:0001519)2.07766945
69Coronal craniosynostosis (HP:0004440)2.06760595
70Osteoarthritis (HP:0002758)2.06027816
71Camptodactyly of toe (HP:0001836)2.06013188
72Abnormality of the calf musculature (HP:0001430)2.05111608
73Morphological abnormality of the middle ear (HP:0008609)2.03447439
74Hip contracture (HP:0003273)2.01809790
75Bell-shaped thorax (HP:0001591)1.99811111
76Obstructive sleep apnea (HP:0002870)1.98917238
77Pulmonary artery stenosis (HP:0004415)1.98903833
78Tarsal synostosis (HP:0008368)1.98824266
79Venous abnormality (HP:0002624)1.98664334
80Breech presentation (HP:0001623)1.97298979
81Natal tooth (HP:0000695)1.97260109
82Venous insufficiency (HP:0005293)1.96099187
83Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)1.92199257
84Difficulty climbing stairs (HP:0003551)1.91075869
85Bowed forearm bones (HP:0003956)1.89869051
86Bowing of the arm (HP:0006488)1.89869051
87Femoral bowing (HP:0002980)1.89509495
88Tibial bowing (HP:0002982)1.88418259
89Abnormality of the 4th metacarpal (HP:0010012)1.88176087
90Short nail (HP:0001799)1.87058147
91Emphysema (HP:0002097)1.86773151
92Muscle fiber inclusion bodies (HP:0100299)1.86594780
93Exercise-induced muscle cramps (HP:0003710)1.86508133
94Knee flexion contracture (HP:0006380)1.86291529
95Osteolytic defects of the hand bones (HP:0009699)1.85619365
96Osteolytic defects of the phalanges of the hand (HP:0009771)1.85619365
97Abnormality of skull ossification (HP:0002703)1.85545704
98Deformed tarsal bones (HP:0008119)1.84956895
99Scapular winging (HP:0003691)1.84338230
100Renal duplication (HP:0000075)1.83547006
101Mitral stenosis (HP:0001718)1.82122949
102Protruding ear (HP:0000411)1.82067827
103Broad long bones (HP:0005622)1.81232206
104Turricephaly (HP:0000262)1.80639798
105Right ventricular cardiomyopathy (HP:0011663)1.79285711
106Premature skin wrinkling (HP:0100678)1.78607137
107Joint stiffness (HP:0001387)1.77626450
108Hypoplasia of the iris (HP:0007676)1.76860004
109Limited hip movement (HP:0008800)1.75859005
110Distal lower limb amyotrophy (HP:0008944)1.75269089
111Calcaneovalgus deformity (HP:0001848)1.75041676
112Aortic regurgitation (HP:0001659)1.74866028
113Hypoplastic ischia (HP:0003175)1.73964434
114Short hallux (HP:0010109)1.73644851
115Lipoatrophy (HP:0100578)1.73597344
116Redundant skin (HP:0001582)1.73535676
117Synostosis involving bones of the lower limbs (HP:0009138)1.73418246
118Synostosis involving bones of the feet (HP:0009140)1.73418246
119Difficulty running (HP:0009046)1.72071455
120Inguinal hernia (HP:0000023)1.72049816
121Short 4th metacarpal (HP:0010044)1.71169983
122Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)1.71169983
123Absent frontal sinuses (HP:0002688)1.71081028
124Osteopenia (HP:0000938)1.70774029
125Flared iliac wings (HP:0002869)1.70001481

Predicted kinase interactions (KEA)

RankGene SetZ-score
1DDR24.70223159
2TRIB34.38399615
3TTN4.35894950
4PDGFRA3.78727985
5SIK13.13875746
6PKN23.12627940
7ERN12.88127043
8LATS12.80686148
9RIPK12.41550549
10EPHA32.41395459
11LATS22.37927610
12EPHB22.16167936
13DMPK2.08854537
14TGFBR21.87108154
15TESK11.84630449
16AKT31.80780688
17EEF2K1.56559091
18PAK21.55388230
19BMX1.44363644
20MYLK1.42514095
21FER1.38130613
22PHKG21.36871879
23PHKG11.36871879
24OBSCN1.36567042
25PTK21.35524852
26PDGFRB1.32353637
27FGFR41.28501117
28FGFR11.27333071
29ROCK11.26937377
30MAPK71.25626362
31FGFR21.22436370
32MAP3K101.22322775
33PTK61.19850922
34PAK31.19819353
35MAP3K61.18525662
36ROCK21.12735920
37MTOR1.12250137
38EPHB11.09402436
39ILK1.07244885
40MAPK151.04714247
41LMTK21.01223645
42PTK2B1.00053543
43PAK40.97464227
44PIK3CA0.96657812
45ICK0.96083788
46ABL20.94556454
47PRKD20.89936243
48LRRK20.88386996
49MET0.88335532
50PRKCH0.87323358
51NEK90.87230201
52STK30.87162957
53FLT30.87137067
54PRKG20.85390829
55MARK10.83525082
56PAK60.82665865
57TRPM70.82083009
58ADRBK20.81687516
59PRKD30.81534305
60MAP3K70.80146302
61RET0.79032782
62PRKD10.77601241
63PIK3CG0.77091413
64MOS0.76514269
65DYRK1B0.75621074
66FGFR30.71241755
67CAMK1D0.69782918
68HIPK20.68550451
69CDC42BPA0.67395768
70STK380.66686216
71NTRK10.66592070
72STK38L0.65981227
73CAMK1G0.64767434
74DAPK30.63037528
75MAPKAPK30.61716876
76CDK120.61024345
77MAP2K10.57815816
78JAK10.56380282
79ERBB30.55634102
80PIM20.54281694
81PAK10.53497742
82TYRO30.51521264
83WNK10.50526948
84CAMK10.50425928
85TAOK10.48425591
86TAOK20.46550250
87ADRBK10.44395802
88GSK3A0.44127948
89MELK0.43762295
90PRPF4B0.42958307
91NEK10.42900562
92CAMK2G0.42885887
93SRC0.42177544
94MARK20.42008711
95GRK10.41043064
96MAP2K30.40244108
97TGFBR10.39968260
98CLK10.39888786
99PDPK10.38234430
100RPS6KA20.38228913
101INSR0.38114944
102MAP3K30.38059157
103GRK50.37628432
104ERBB20.37457284
105ZAP700.37288542
106LIMK10.36743376
107MAPK40.36366313
108PRKCE0.35513768
109RPS6KA40.34958615
110WNK40.34559144
111KIT0.33425668
112RPS6KC10.33238864
113RPS6KL10.33238864
114NEK20.33060710
115SMG10.32078846
116MAPK10.31738039
117ERBB40.31199340
118AKT20.29911606
119MST1R0.29698858
120CAMK40.29321402
121RPS6KA60.29304691
122MAPK120.28315019
123PDK30.27394926
124PDK40.27394926
125CDK60.27349583
126MAPKAPK20.27173280
127CAMK2D0.27121944

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045124.63365010
2Focal adhesion_Homo sapiens_hsa045103.06594180
3Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.90693703
4Dilated cardiomyopathy_Homo sapiens_hsa054142.89684927
5Protein digestion and absorption_Homo sapiens_hsa049742.84062806
6Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.60058873
7Amoebiasis_Homo sapiens_hsa051462.28466152
8AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049332.15278162
9Malaria_Homo sapiens_hsa051442.06775818
10Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.06204268
11Proteoglycans in cancer_Homo sapiens_hsa052052.03335268
12Basal cell carcinoma_Homo sapiens_hsa052171.84006719
13TGF-beta signaling pathway_Homo sapiens_hsa043501.64844198
14Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.64651011
15Adherens junction_Homo sapiens_hsa045201.61886522
16PI3K-Akt signaling pathway_Homo sapiens_hsa041511.61553125
17Chronic myeloid leukemia_Homo sapiens_hsa052201.59041245
18Small cell lung cancer_Homo sapiens_hsa052221.57374313
19Bladder cancer_Homo sapiens_hsa052191.56113577
20Viral myocarditis_Homo sapiens_hsa054161.54232771
21Hedgehog signaling pathway_Homo sapiens_hsa043401.50143810
22Hippo signaling pathway_Homo sapiens_hsa043901.48769755
23MicroRNAs in cancer_Homo sapiens_hsa052061.44375893
24Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.42914586
25Other glycan degradation_Homo sapiens_hsa005111.42107890
26Central carbon metabolism in cancer_Homo sapiens_hsa052301.27569477
27Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.26810108
28Melanoma_Homo sapiens_hsa052181.22525602
29Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.19258759
30Glioma_Homo sapiens_hsa052141.18235318
31Notch signaling pathway_Homo sapiens_hsa043301.14789665
32Cocaine addiction_Homo sapiens_hsa050301.11007426
33Regulation of actin cytoskeleton_Homo sapiens_hsa048101.05954612
34Pathways in cancer_Homo sapiens_hsa052001.05462654
35Glycosaminoglycan degradation_Homo sapiens_hsa005311.04762718
36Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.02253822
37Wnt signaling pathway_Homo sapiens_hsa043101.00945142
38Insulin resistance_Homo sapiens_hsa049311.00477459
39Pancreatic cancer_Homo sapiens_hsa052120.99427357
40Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.98118142
41Axon guidance_Homo sapiens_hsa043600.97597141
42Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.97154660
43Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.96808005
44Melanogenesis_Homo sapiens_hsa049160.91115798
45mTOR signaling pathway_Homo sapiens_hsa041500.91023353
46Toxoplasmosis_Homo sapiens_hsa051450.90251154
47HIF-1 signaling pathway_Homo sapiens_hsa040660.90043610
48cGMP-PKG signaling pathway_Homo sapiens_hsa040220.88525220
49Longevity regulating pathway - mammal_Homo sapiens_hsa042110.86851815
50Estrogen signaling pathway_Homo sapiens_hsa049150.85854174
51Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.85765762
52Platelet activation_Homo sapiens_hsa046110.84233003
53Prostate cancer_Homo sapiens_hsa052150.83298025
54Tight junction_Homo sapiens_hsa045300.80583361
55Complement and coagulation cascades_Homo sapiens_hsa046100.80321569
56Insulin signaling pathway_Homo sapiens_hsa049100.79366775
57Rap1 signaling pathway_Homo sapiens_hsa040150.79235341
58AMPK signaling pathway_Homo sapiens_hsa041520.78929670
59Renal cell carcinoma_Homo sapiens_hsa052110.78297217
60Leukocyte transendothelial migration_Homo sapiens_hsa046700.77759345
61Adipocytokine signaling pathway_Homo sapiens_hsa049200.76630359
62Thyroid hormone signaling pathway_Homo sapiens_hsa049190.75918467
63Vascular smooth muscle contraction_Homo sapiens_hsa042700.75887733
64Colorectal cancer_Homo sapiens_hsa052100.75553398
65Lysine degradation_Homo sapiens_hsa003100.75419777
66GnRH signaling pathway_Homo sapiens_hsa049120.75288796
67HTLV-I infection_Homo sapiens_hsa051660.73102567
68Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.73042577
69Cardiac muscle contraction_Homo sapiens_hsa042600.71674506
70Oxytocin signaling pathway_Homo sapiens_hsa049210.71385094
71Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.70505359
72Dorso-ventral axis formation_Homo sapiens_hsa043200.70170951
73Gap junction_Homo sapiens_hsa045400.69864531
74Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.69150521
75Endometrial cancer_Homo sapiens_hsa052130.68874295
76TNF signaling pathway_Homo sapiens_hsa046680.68217166
77Prion diseases_Homo sapiens_hsa050200.67528584
78Insulin secretion_Homo sapiens_hsa049110.65937543
79Calcium signaling pathway_Homo sapiens_hsa040200.65770529
80VEGF signaling pathway_Homo sapiens_hsa043700.65535574
81Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.64695509
82Circadian rhythm_Homo sapiens_hsa047100.64567606
83Aldosterone synthesis and secretion_Homo sapiens_hsa049250.62609911
84Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.62171707
85Phospholipase D signaling pathway_Homo sapiens_hsa040720.61676125
86Cholinergic synapse_Homo sapiens_hsa047250.61570883
87Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.60223631
88Neurotrophin signaling pathway_Homo sapiens_hsa047220.60180447
89Glucagon signaling pathway_Homo sapiens_hsa049220.59408945
90MAPK signaling pathway_Homo sapiens_hsa040100.56511828
91Phagosome_Homo sapiens_hsa041450.56437524
92Ras signaling pathway_Homo sapiens_hsa040140.56267919
93Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.55739552
94Type II diabetes mellitus_Homo sapiens_hsa049300.54935747
95p53 signaling pathway_Homo sapiens_hsa041150.54527766
96Pertussis_Homo sapiens_hsa051330.53291666
97FoxO signaling pathway_Homo sapiens_hsa040680.53042689
982-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.50553040
99Vibrio cholerae infection_Homo sapiens_hsa051100.49792419
100Sphingolipid metabolism_Homo sapiens_hsa006000.49563189
101Thyroid hormone synthesis_Homo sapiens_hsa049180.48257415
102Acute myeloid leukemia_Homo sapiens_hsa052210.47204081
103Renin secretion_Homo sapiens_hsa049240.46764014
104Gastric acid secretion_Homo sapiens_hsa049710.46273719
105Galactose metabolism_Homo sapiens_hsa000520.45633816
106Non-small cell lung cancer_Homo sapiens_hsa052230.45573735
107N-Glycan biosynthesis_Homo sapiens_hsa005100.45572339
108Choline metabolism in cancer_Homo sapiens_hsa052310.45142798
109Endocytosis_Homo sapiens_hsa041440.44715690
110ErbB signaling pathway_Homo sapiens_hsa040120.43510328
111Lysosome_Homo sapiens_hsa041420.43026792
112Ovarian steroidogenesis_Homo sapiens_hsa049130.42723870
113Osteoclast differentiation_Homo sapiens_hsa043800.42722828
114Hepatitis B_Homo sapiens_hsa051610.42229344
115Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.41612824
116Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.40291419
117Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.40209832
118cAMP signaling pathway_Homo sapiens_hsa040240.40024202
119Renin-angiotensin system_Homo sapiens_hsa046140.37519018
120Salivary secretion_Homo sapiens_hsa049700.35512894

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