SRGAP2C

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





Description: This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. This human-specific locus resulted from segmental duplication of the SLIT-ROBO Rho GTPase activating protein 2B locus. The encoded protein lacks the GTPase activating protein domain compared to proteins encoded by SLIT-ROBO Rho GTPase activating protein 2, and acts antagonistically to these proteins in cortical neuron development. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1presynaptic membrane assembly (GO:0097105)4.79785058
2presynaptic membrane organization (GO:0097090)4.41763832
3response to pheromone (GO:0019236)4.09583352
4glycosphingolipid biosynthetic process (GO:0006688)3.54461071
5protein localization to cilium (GO:0061512)3.43062150
6protein prenylation (GO:0018342)3.35976797
7prenylation (GO:0097354)3.35976797
8detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.28659622
9mitotic sister chromatid cohesion (GO:0007064)3.27265847
10DNA double-strand break processing (GO:0000729)3.23955465
11postsynaptic membrane organization (GO:0001941)3.23781354
12intraciliary transport (GO:0042073)3.13962514
13regulation of DNA endoreduplication (GO:0032875)3.12015183
14positive regulation of protein autophosphorylation (GO:0031954)3.07911688
15atrial cardiac muscle cell action potential (GO:0086014)3.01161224
16limb bud formation (GO:0060174)2.99918403
17signal peptide processing (GO:0006465)2.97214053
18negative regulation of translation, ncRNA-mediated (GO:0040033)2.95687689
19regulation of translation, ncRNA-mediated (GO:0045974)2.95687689
20negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.95687689
21histone H2A acetylation (GO:0043968)2.89333193
22respiratory chain complex IV assembly (GO:0008535)2.89159699
23replication fork processing (GO:0031297)2.88231758
24retinal ganglion cell axon guidance (GO:0031290)2.81167641
25proline transport (GO:0015824)2.79989991
26C4-dicarboxylate transport (GO:0015740)2.79517575
27inositol phosphate catabolic process (GO:0071545)2.78113787
28platelet dense granule organization (GO:0060155)2.77366187
29negative regulation of DNA-dependent DNA replication (GO:2000104)2.70048280
30lactate metabolic process (GO:0006089)2.69083808
31detection of light stimulus involved in sensory perception (GO:0050962)2.68201640
32detection of light stimulus involved in visual perception (GO:0050908)2.68201640
33pyrimidine nucleobase catabolic process (GO:0006208)2.66601750
34negative regulation of axon extension involved in axon guidance (GO:0048843)2.65540939
35startle response (GO:0001964)2.62932648
36kinetochore organization (GO:0051383)2.61900034
37regulation of calcineurin-NFAT signaling cascade (GO:0070884)2.61888684
38microtubule anchoring (GO:0034453)2.61357237
39righting reflex (GO:0060013)2.60783511
40olfactory bulb development (GO:0021772)2.60774920
41protein K11-linked deubiquitination (GO:0035871)2.60583286
42retinal cone cell development (GO:0046549)2.59741733
43G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.59111717
44kinetochore assembly (GO:0051382)2.54408875
45synapsis (GO:0007129)2.54111412
46cilium morphogenesis (GO:0060271)2.53602775
47regulation of ER to Golgi vesicle-mediated transport (GO:0060628)2.52170919
48positive regulation of inositol phosphate biosynthetic process (GO:0060732)2.44400298
49neurotransmitter-gated ion channel clustering (GO:0072578)2.44138616
50negative regulation of calcium ion-dependent exocytosis (GO:0045955)2.44097742
51neuronal action potential propagation (GO:0019227)2.43414213
52regulation of hexokinase activity (GO:1903299)2.43151455
53regulation of glucokinase activity (GO:0033131)2.43151455
54regulation of protein glycosylation (GO:0060049)2.42877945
55positive regulation of glycolytic process (GO:0045821)2.42825054
56regulation of protein autophosphorylation (GO:0031952)2.41291859
57transmission of nerve impulse (GO:0019226)2.40692880
58regulation of timing of cell differentiation (GO:0048505)2.39888097
59protein K6-linked ubiquitination (GO:0085020)2.39297842
60dorsal/ventral axis specification (GO:0009950)2.38410124
61polyol catabolic process (GO:0046174)2.37969517
62response to lipoprotein particle (GO:0055094)2.37621297
63central nervous system neuron axonogenesis (GO:0021955)2.37492829
64positive regulation of glycoprotein biosynthetic process (GO:0010560)2.35614042
65cytochrome complex assembly (GO:0017004)2.33896599
66anterograde synaptic vesicle transport (GO:0048490)2.33816201
67negative regulation of axon guidance (GO:1902668)2.31586507
68neuron cell-cell adhesion (GO:0007158)2.30608191
69negative regulation of neurological system process (GO:0031645)2.29244226
70mechanosensory behavior (GO:0007638)2.28476285
71cilium organization (GO:0044782)2.28171237
72keratinocyte development (GO:0003334)2.28118410
73reflex (GO:0060004)2.27508957
74cilium assembly (GO:0042384)2.25964828
75regulation of neurotransmitter uptake (GO:0051580)2.25928988
76nucleobase catabolic process (GO:0046113)2.25740882
77recombinational repair (GO:0000725)2.25588734
78retinal rod cell development (GO:0046548)2.25428182
79axonal fasciculation (GO:0007413)2.25317006
80vocalization behavior (GO:0071625)2.24867137
81double-strand break repair via homologous recombination (GO:0000724)2.24789794
82negative regulation of neurotransmitter transport (GO:0051589)2.24334968
83detection of mechanical stimulus involved in sensory perception (GO:0050974)2.23204018
84brain morphogenesis (GO:0048854)2.22734653
85photoreceptor cell development (GO:0042461)2.22337444
86protein heterotetramerization (GO:0051290)2.21479568
87regulation of attachment of spindle microtubules to kinetochore (GO:0051988)2.21373314
88prostate gland growth (GO:0060736)2.20973526
89appendage development (GO:0048736)2.20825890
90limb development (GO:0060173)2.20825890
91kidney morphogenesis (GO:0060993)2.20025348
92negative regulation of cytosolic calcium ion concentration (GO:0051481)2.18734295
93smoothened signaling pathway (GO:0007224)2.18522853
94gamma-aminobutyric acid transport (GO:0015812)2.17702022
95negative chemotaxis (GO:0050919)2.17468800
96cerebral cortex radially oriented cell migration (GO:0021799)2.17325962
97fucose catabolic process (GO:0019317)2.16506866
98L-fucose metabolic process (GO:0042354)2.16506866
99L-fucose catabolic process (GO:0042355)2.16506866
100photoreceptor cell maintenance (GO:0045494)2.16113440

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GBX2_23144817_ChIP-Seq_PC3_Human3.47383364
2SALL1_21062744_ChIP-ChIP_HESCs_Human3.19433168
3POU3F2_20337985_ChIP-ChIP_501MEL_Human3.07615609
4ZFP57_27257070_Chip-Seq_ESCs_Mouse3.05834445
5CEBPD_23245923_ChIP-Seq_MEFs_Mouse3.00660893
6GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.74527352
7FUS_26573619_Chip-Seq_HEK293_Human2.39779247
8VDR_22108803_ChIP-Seq_LS180_Human2.38470916
9P300_19829295_ChIP-Seq_ESCs_Human2.37720489
10EWS_26573619_Chip-Seq_HEK293_Human2.35324107
11AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human2.35111115
12ZNF274_21170338_ChIP-Seq_K562_Hela2.32995820
13TAF15_26573619_Chip-Seq_HEK293_Human2.26958465
14CTBP2_25329375_ChIP-Seq_LNCAP_Human2.18428376
15SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse2.07759709
16SMAD4_21799915_ChIP-Seq_A2780_Human2.06763130
17SMARCD1_25818293_ChIP-Seq_ESCs_Mouse2.03505447
18PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human2.00766246
19OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.92096623
20PIAS1_25552417_ChIP-Seq_VCAP_Human1.88237262
21IGF1R_20145208_ChIP-Seq_DFB_Human1.87061139
22MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.84238527
23CTBP1_25329375_ChIP-Seq_LNCAP_Human1.83241003
24GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.81739270
25FLI1_27457419_Chip-Seq_LIVER_Mouse1.75651679
26BCAT_22108803_ChIP-Seq_LS180_Human1.74603726
27SMAD3_21741376_ChIP-Seq_EPCs_Human1.73820849
28STAT3_23295773_ChIP-Seq_U87_Human1.73314930
29SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.73289521
30ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.70149252
31UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.67566045
32SMAD_19615063_ChIP-ChIP_OVARY_Human1.61181749
33EZH2_27294783_Chip-Seq_NPCs_Mouse1.58593900
34TCF4_23295773_ChIP-Seq_U87_Human1.57647247
35CDX2_19796622_ChIP-Seq_MESCs_Mouse1.57029810
36AR_25329375_ChIP-Seq_VCAP_Human1.56929230
37HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.52359523
38TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.50745602
39ER_23166858_ChIP-Seq_MCF-7_Human1.49923277
40NANOG_18555785_Chip-Seq_ESCs_Mouse1.49695500
41BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.45998069
42PCGF2_27294783_Chip-Seq_ESCs_Mouse1.45996258
43TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.43883599
44CBP_20019798_ChIP-Seq_JUKART_Human1.43222502
45IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.43222502
46TOP2B_26459242_ChIP-Seq_MCF-7_Human1.42802027
47TCF4_22108803_ChIP-Seq_LS180_Human1.42760840
48NR3C1_21868756_ChIP-Seq_MCF10A_Human1.42666508
49SUZ12_27294783_Chip-Seq_NPCs_Mouse1.37553390
50TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.36145044
51FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.33944654
52EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.33832110
53FLI1_21867929_ChIP-Seq_TH2_Mouse1.33719049
54CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.33160876
55CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.32640860
56RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.31805367
57FOXM1_26456572_ChIP-Seq_MCF-7_Human1.30265824
58RUNX2_22187159_ChIP-Seq_PCA_Human1.27234530
59P53_22387025_ChIP-Seq_ESCs_Mouse1.26083098
60NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.25053656
61NFE2_27457419_Chip-Seq_LIVER_Mouse1.24860505
62MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.23967815
63KLF5_20875108_ChIP-Seq_MESCs_Mouse1.23087710
64NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.22454415
65NRF2_20460467_ChIP-Seq_MEFs_Mouse1.22454415
66MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.22287845
67CRX_20693478_ChIP-Seq_RETINA_Mouse1.20932170
68E2F1_18555785_Chip-Seq_ESCs_Mouse1.20924524
69TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.20888436
70TP53_16413492_ChIP-PET_HCT116_Human1.20376752
71ZNF217_24962896_ChIP-Seq_MCF-7_Human1.20023341
72NANOG_19829295_ChIP-Seq_ESCs_Human1.19284977
73SOX2_19829295_ChIP-Seq_ESCs_Human1.19284977
74CBX2_27304074_Chip-Seq_ESCs_Mouse1.18856030
75ELK1_19687146_ChIP-ChIP_HELA_Human1.18449444
76TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.18243380
77POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.18243380
78PCGF2_27294783_Chip-Seq_NPCs_Mouse1.16951004
79SOX2_21211035_ChIP-Seq_LN229_Gbm1.16556242
80SMAD4_21741376_ChIP-Seq_EPCs_Human1.16358834
81CMYC_18555785_Chip-Seq_ESCs_Mouse1.15801968
82POU5F1_16153702_ChIP-ChIP_HESCs_Human1.15114855
83TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.14965570
84SUZ12_18555785_Chip-Seq_ESCs_Mouse1.14690829
85STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.13580272
86HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.13042333
87CDX2_22108803_ChIP-Seq_LS180_Human1.11659555
88OCT4_21477851_ChIP-Seq_ESCs_Mouse1.10836161
89TP53_18474530_ChIP-ChIP_U2OS_Human1.10248033
90KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.08068640
91CJUN_26792858_Chip-Seq_BT549_Human1.07120256
92SOX9_26525672_Chip-Seq_HEART_Mouse1.06256675
93P300_18555785_Chip-Seq_ESCs_Mouse1.06081155
94RNF2_27304074_Chip-Seq_NSC_Mouse1.05545926
95TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.04832460
96ARNT_22903824_ChIP-Seq_MCF-7_Human1.03321211
97PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.02794552
98JUN_21703547_ChIP-Seq_K562_Human1.02618026
99KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.01973562
100LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.01808202

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003195_calcinosis4.13716107
2MP0000569_abnormal_digit_pigmentation2.81478471
3MP0000372_irregular_coat_pigmentation2.69498766
4MP0002102_abnormal_ear_morphology2.59923397
5MP0003880_abnormal_central_pattern2.56764823
6MP0005171_absent_coat_pigmentation2.54122033
7MP0002736_abnormal_nociception_after2.38306709
8MP0006054_spinal_hemorrhage2.30697402
9MP0001968_abnormal_touch/_nociception2.04204139
10MP0009046_muscle_twitch2.02562850
11MP0008057_abnormal_DNA_replication2.01637925
12MP0001984_abnormal_olfaction1.97765855
13MP0005551_abnormal_eye_electrophysiolog1.97561419
14MP0005367_renal/urinary_system_phenotyp1.97529315
15MP0000516_abnormal_urinary_system1.97529315
16MP0005253_abnormal_eye_physiology1.95242954
17MP0003136_yellow_coat_color1.89190226
18MP0009780_abnormal_chondrocyte_physiolo1.76219335
19MP0008877_abnormal_DNA_methylation1.72980308
20MP0002938_white_spotting1.69835377
21MP0003787_abnormal_imprinting1.69668154
22MP0002837_dystrophic_cardiac_calcinosis1.65454177
23MP0005174_abnormal_tail_pigmentation1.62416411
24MP0001486_abnormal_startle_reflex1.60862143
25MP0010094_abnormal_chromosome_stability1.58032292
26MP0002090_abnormal_vision1.50839350
27MP0002638_abnormal_pupillary_reflex1.49251098
28MP0003950_abnormal_plasma_membrane1.44810099
29MP0009745_abnormal_behavioral_response1.43484365
30MP0000427_abnormal_hair_cycle1.42868095
31MP0006072_abnormal_retinal_apoptosis1.38953271
32MP0003121_genomic_imprinting1.37558604
33MP0000778_abnormal_nervous_system1.36261904
34MP0006276_abnormal_autonomic_nervous1.35038868
35MP0003283_abnormal_digestive_organ1.34432898
36MP0005646_abnormal_pituitary_gland1.34163572
37MP0002272_abnormal_nervous_system1.33886238
38MP0003937_abnormal_limbs/digits/tail_de1.33587549
39MP0001324_abnormal_eye_pigmentation1.32076810
40MP0000015_abnormal_ear_pigmentation1.26077089
41MP0004270_analgesia1.25120876
42MP0002064_seizures1.24753757
43MP0001485_abnormal_pinna_reflex1.24622723
44MP0008058_abnormal_DNA_repair1.24320680
45MP0002233_abnormal_nose_morphology1.24172583
46MP0002095_abnormal_skin_pigmentation1.22992623
47MP0002734_abnormal_mechanical_nocicepti1.21480528
48MP0005386_behavior/neurological_phenoty1.19133246
49MP0004924_abnormal_behavior1.19133246
50MP0004885_abnormal_endolymph1.18078081
51MP0000647_abnormal_sebaceous_gland1.16766474
52MP0004043_abnormal_pH_regulation1.15949381
53MP0002557_abnormal_social/conspecific_i1.15627461
54MP0010678_abnormal_skin_adnexa1.13303903
55MP0003755_abnormal_palate_morphology1.12905311
56MP0002909_abnormal_adrenal_gland1.12077197
57MP0004859_abnormal_synaptic_plasticity1.09544114
58MP0005187_abnormal_penis_morphology1.09373708
59MP0003635_abnormal_synaptic_transmissio1.08939453
60MP0009697_abnormal_copulation1.04359762
61MP0004215_abnormal_myocardial_fiber1.03358702
62MP0000383_abnormal_hair_follicle1.01033308
63MP0003122_maternal_imprinting1.00805371
64MP0003890_abnormal_embryonic-extraembry1.00778447
65MP0002572_abnormal_emotion/affect_behav1.00406981
66MP0002067_abnormal_sensory_capabilities0.99505097
67MP0001501_abnormal_sleep_pattern0.98137844
68MP0002063_abnormal_learning/memory/cond0.97883331
69MP0002168_other_aberrant_phenotype0.97788782
70MP0003718_maternal_effect0.97755287
71MP0005248_abnormal_Harderian_gland0.96527248
72MP0002653_abnormal_ependyma_morphology0.96508763
73MP0005075_abnormal_melanosome_morpholog0.96466360
74MP0001299_abnormal_eye_distance/0.95144603
75MP0002928_abnormal_bile_duct0.94236045
76MP0004142_abnormal_muscle_tone0.93978783
77MP0002751_abnormal_autonomic_nervous0.91751228
78MP0001177_atelectasis0.91694385
79MP0005408_hypopigmentation0.90972359
80MP0000631_abnormal_neuroendocrine_gland0.90836214
81MP0005395_other_phenotype0.90835363
82MP0004484_altered_response_of0.90531471
83MP0003119_abnormal_digestive_system0.87784806
84MP0003935_abnormal_craniofacial_develop0.87437840
85MP0003011_delayed_dark_adaptation0.87012578
86MP0000371_diluted_coat_color0.86795020
87MP0005391_vision/eye_phenotype0.86521487
88MP0002184_abnormal_innervation0.85077596
89MP0005195_abnormal_posterior_eye0.84089072
90MP0002735_abnormal_chemical_nociception0.83712287
91MP0005379_endocrine/exocrine_gland_phen0.81979249
92MP0000955_abnormal_spinal_cord0.80209470
93MP0003943_abnormal_hepatobiliary_system0.79915227
94MP0001970_abnormal_pain_threshold0.78846246
95MP0002752_abnormal_somatic_nervous0.77934265
96MP0010234_abnormal_vibrissa_follicle0.77502329
97MP0003633_abnormal_nervous_system0.75816156
98MP0001986_abnormal_taste_sensitivity0.73908490
99MP0002882_abnormal_neuron_morphology0.71786673
100MP0002163_abnormal_gland_morphology0.70852394

Predicted human phenotypes

RankGene SetZ-score
1Intestinal atresia (HP:0011100)4.32146886
2Volvulus (HP:0002580)3.70153809
3Hyperventilation (HP:0002883)3.19671906
4Aqueductal stenosis (HP:0002410)2.98275658
5Pancreatic cysts (HP:0001737)2.97096863
6True hermaphroditism (HP:0010459)2.89503598
7Pancreatic fibrosis (HP:0100732)2.88929171
8Febrile seizures (HP:0002373)2.73447663
9Hemiparesis (HP:0001269)2.71180984
10Abnormality of the astrocytes (HP:0100707)2.67196854
11Astrocytoma (HP:0009592)2.67196854
12Abnormality of midbrain morphology (HP:0002418)2.66408628
13Molar tooth sign on MRI (HP:0002419)2.66408628
14Focal seizures (HP:0007359)2.62514728
15Neoplasm of the adrenal cortex (HP:0100641)2.58344756
16Hypothermia (HP:0002045)2.52851744
17Large for gestational age (HP:0001520)2.46858725
18Medial flaring of the eyebrow (HP:0010747)2.45688608
19Glioma (HP:0009733)2.42948331
20Oligodactyly (hands) (HP:0001180)2.42530110
21Gastrointestinal atresia (HP:0002589)2.40366572
22Hypoglycemic seizures (HP:0002173)2.40105664
23Pancreatic islet-cell hyperplasia (HP:0004510)2.36492647
24Abnormality of chromosome stability (HP:0003220)2.35823701
25Gaze-evoked nystagmus (HP:0000640)2.35692678
26Genital tract atresia (HP:0001827)2.28393456
27Gait imbalance (HP:0002141)2.26457147
28Nephronophthisis (HP:0000090)2.26445647
29Absent speech (HP:0001344)2.24647668
30Bifid tongue (HP:0010297)2.23903262
31Widely spaced teeth (HP:0000687)2.23741298
32Abnormality of the renal cortex (HP:0011035)2.21901900
33Fair hair (HP:0002286)2.20444514
34Increased corneal curvature (HP:0100692)2.19868183
35Keratoconus (HP:0000563)2.19868183
36Focal motor seizures (HP:0011153)2.19502173
37Decreased central vision (HP:0007663)2.18158173
38Congenital primary aphakia (HP:0007707)2.17178829
39Aplasia/Hypoplasia of the uvula (HP:0010293)2.15466728
40Vaginal atresia (HP:0000148)2.13520090
41Congenital stationary night blindness (HP:0007642)2.12740961
42Renal hypoplasia (HP:0000089)2.11462659
43Abnormality of the metopic suture (HP:0005556)2.11222294
44Aplasia/Hypoplasia of the tibia (HP:0005772)2.09332371
45Abnormality of the renal medulla (HP:0100957)2.08512990
46Hyperinsulinemic hypoglycemia (HP:0000825)2.08219633
47Abolished electroretinogram (ERG) (HP:0000550)2.05327654
48Abnormality of the ischium (HP:0003174)2.05190482
49Abnormal lung lobation (HP:0002101)2.03874907
50Hypoplasia of the fovea (HP:0007750)2.03196263
51Aplasia/Hypoplasia of the fovea (HP:0008060)2.03196263
52Abnormality of the pancreatic islet cells (HP:0006476)2.00306515
53Abnormality of endocrine pancreas physiology (HP:0012093)2.00306515
54Preaxial hand polydactyly (HP:0001177)1.99228735
55Astigmatism (HP:0000483)1.99225472
56Thyroiditis (HP:0100646)1.98137933
57Ependymoma (HP:0002888)1.96861967
58Blue irides (HP:0000635)1.96012662
59Hypomagnesemia (HP:0002917)1.95488325
60Hypoglycemic coma (HP:0001325)1.95010913
61Broad-based gait (HP:0002136)1.94170634
62Atonic seizures (HP:0010819)1.94160241
63Abnormality of the ileum (HP:0001549)1.93689059
64Increased circulating renin level (HP:0000848)1.93126981
65Sloping forehead (HP:0000340)1.93089117
66Meckel diverticulum (HP:0002245)1.91353267
67Abnormality of the labia minora (HP:0012880)1.89536662
68Chronic hepatic failure (HP:0100626)1.88262600
69Small hand (HP:0200055)1.87915563
70Disproportionate short-trunk short stature (HP:0003521)1.87467958
71Postaxial hand polydactyly (HP:0001162)1.87255456
72Aplasia/Hypoplasia of the tongue (HP:0010295)1.86183615
73Renal cortical cysts (HP:0000803)1.86130591
74Drooling (HP:0002307)1.85805290
75Median cleft lip (HP:0000161)1.85790790
76Epidermoid cyst (HP:0200040)1.85715882
77Generalized hypopigmentation of hair (HP:0011358)1.84833098
78Abnormality of the duodenum (HP:0002246)1.84703662
79Nephrogenic diabetes insipidus (HP:0009806)1.82556285
80Patchy hypopigmentation of hair (HP:0011365)1.82131082
81Cupped ear (HP:0000378)1.80961200
82Epileptiform EEG discharges (HP:0011182)1.79147780
83Hypsarrhythmia (HP:0002521)1.79103217
84Polydipsia (HP:0001959)1.78397773
85Abnormal drinking behavior (HP:0030082)1.78397773
86EEG with generalized epileptiform discharges (HP:0011198)1.78250155
87Hypoplastic ischia (HP:0003175)1.78095084
88Prominent metopic ridge (HP:0005487)1.77651851
89Ketoacidosis (HP:0001993)1.76498752
90Tented upper lip vermilion (HP:0010804)1.76387262
91Postaxial foot polydactyly (HP:0001830)1.72416152
92Abnormal auditory evoked potentials (HP:0006958)1.71773176
93Exotropia (HP:0000577)1.71493877
94Long clavicles (HP:0000890)1.71281771
95Anencephaly (HP:0002323)1.71028945
96Abnormality of the fovea (HP:0000493)1.70704631
97Hamartoma of the eye (HP:0010568)1.70291101
98Cystic liver disease (HP:0006706)1.69968953
99Duodenal stenosis (HP:0100867)1.69890507
100Small intestinal stenosis (HP:0012848)1.69890507

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK5.82241264
2CASK2.92958893
3BMPR1B2.80986308
4TRIM282.69846705
5WNK32.54454778
6ACVR1B2.18789877
7TNIK2.15515236
8PLK22.14197427
9WEE12.10652204
10MARK12.10274251
11MAP4K22.04181477
12MKNK22.03684731
13NUAK11.97152020
14FGFR21.94383915
15STK391.92913566
16EIF2AK31.87377407
17PLK31.72015858
18ERBB31.66369064
19MAPK131.62148954
20MST41.55937561
21BCR1.54954077
22BRSK21.53579497
23PNCK1.53411333
24PAK31.37785017
25NTRK31.36107237
26FER1.31576435
27BUB11.31546884
28AKT31.27021337
29OXSR11.26209162
30MKNK11.17834006
31CSNK1G11.13107806
32CCNB11.13033590
33STK31.12913551
34INSRR1.12806778
35CSNK1G21.11646113
36ZAK1.08860672
37NEK11.08376144
38GRK11.06627933
39EPHA41.06151392
40MAP3K41.05427140
41TAF11.02322018
42PDK21.01574088
43STK160.96786841
44TIE10.95881932
45CSNK1G30.93142373
46STK38L0.91495364
47PLK40.90530698
48EIF2AK10.90285911
49PRKCE0.88762456
50CSNK1A1L0.87356819
51ADRBK20.80681695
52PRKCG0.79948870
53MELK0.79582496
54SIK30.78624389
55NTRK20.76514286
56TGFBR10.76151087
57PKN10.75495696
58PHKG10.72410771
59PHKG20.72410771
60MAP3K90.70923937
61MINK10.70815199
62PLK10.66238156
63TTK0.62297171
64PINK10.59745649
65YES10.58998048
66FGFR10.58959034
67PTK2B0.58030328
68SGK20.55223054
69ATM0.54549819
70PAK60.54330900
71CDK30.54083321
72EIF2AK20.53644705
73ROCK10.50476743
74MUSK0.50175556
75MAP2K10.49857075
76PBK0.49344608
77ADRBK10.49285244
78BRSK10.48770412
79GRK50.47838581
80MARK30.47627390
81CAMK2A0.46562088
82KSR10.43902823
83BRD40.42986959
84VRK10.42189273
85MAPKAPK50.42129324
86CHEK20.41764285
87ERBB40.41059258
88CSNK1D0.40905005
89GSK3A0.35964939
90TSSK60.35124299
91CAMK2D0.34286005
92CAMK1G0.34079985
93ROCK20.33701954
94NLK0.31621177
95TGFBR20.30145713
96PRKG10.29771489
97PRKAA20.29522621
98DYRK1A0.29368435
99MAP2K70.28943091
100STK110.28253134

Predicted pathways (KEGG)

RankGene SetZ-score
1Protein export_Homo sapiens_hsa030602.99527728
2Non-homologous end-joining_Homo sapiens_hsa034502.84150726
3Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.75739795
4Maturity onset diabetes of the young_Homo sapiens_hsa049502.34672297
5Fanconi anemia pathway_Homo sapiens_hsa034602.27209891
6Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.23139210
7Phototransduction_Homo sapiens_hsa047442.18767595
8Propanoate metabolism_Homo sapiens_hsa006402.14498227
9Butanoate metabolism_Homo sapiens_hsa006502.14104202
10Nicotine addiction_Homo sapiens_hsa050332.01579189
11Insulin secretion_Homo sapiens_hsa049111.87539247
12Homologous recombination_Homo sapiens_hsa034401.82134084
13Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.74593043
14Steroid biosynthesis_Homo sapiens_hsa001001.68446295
15Vitamin B6 metabolism_Homo sapiens_hsa007501.67220635
16Basal transcription factors_Homo sapiens_hsa030221.67154271
17Circadian rhythm_Homo sapiens_hsa047101.59886778
18Nitrogen metabolism_Homo sapiens_hsa009101.55370970
19Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.49103338
20Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.38261846
21Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.35204790
22Circadian entrainment_Homo sapiens_hsa047131.34825544
23Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.34255511
24Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.32905309
25Glutamatergic synapse_Homo sapiens_hsa047241.29019488
26Oocyte meiosis_Homo sapiens_hsa041141.27244907
27Dorso-ventral axis formation_Homo sapiens_hsa043201.23633337
28Ether lipid metabolism_Homo sapiens_hsa005651.22892317
29Selenocompound metabolism_Homo sapiens_hsa004501.19239714
30Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.18994056
31Dopaminergic synapse_Homo sapiens_hsa047281.16388226
32Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.12886091
33Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.12298742
34RNA degradation_Homo sapiens_hsa030181.12003107
35Tryptophan metabolism_Homo sapiens_hsa003801.10139530
36GABAergic synapse_Homo sapiens_hsa047271.07991950
37Sphingolipid metabolism_Homo sapiens_hsa006001.06743710
38Lysine degradation_Homo sapiens_hsa003101.03818941
39TGF-beta signaling pathway_Homo sapiens_hsa043501.03276477
40Olfactory transduction_Homo sapiens_hsa047401.02763887
41Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.02622653
42beta-Alanine metabolism_Homo sapiens_hsa004101.00526583
43Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.99191911
44Amphetamine addiction_Homo sapiens_hsa050310.99130036
45Taste transduction_Homo sapiens_hsa047420.98541744
46Fatty acid elongation_Homo sapiens_hsa000620.98147718
47Fatty acid metabolism_Homo sapiens_hsa012120.97888628
48Regulation of autophagy_Homo sapiens_hsa041400.94022958
49Collecting duct acid secretion_Homo sapiens_hsa049660.92130532
50Morphine addiction_Homo sapiens_hsa050320.92032345
51ABC transporters_Homo sapiens_hsa020100.86247372
52Salivary secretion_Homo sapiens_hsa049700.86244882
53p53 signaling pathway_Homo sapiens_hsa041150.86031185
54Hippo signaling pathway_Homo sapiens_hsa043900.85518499
55Hedgehog signaling pathway_Homo sapiens_hsa043400.84538369
56Peroxisome_Homo sapiens_hsa041460.78274013
57Primary bile acid biosynthesis_Homo sapiens_hsa001200.78183323
58Renin secretion_Homo sapiens_hsa049240.74918503
59Wnt signaling pathway_Homo sapiens_hsa043100.72299387
60Calcium signaling pathway_Homo sapiens_hsa040200.68932545
61Serotonergic synapse_Homo sapiens_hsa047260.65876622
62Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.65579044
63cAMP signaling pathway_Homo sapiens_hsa040240.64261941
64Cell cycle_Homo sapiens_hsa041100.63527292
65Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.63472006
66Sulfur metabolism_Homo sapiens_hsa009200.63050439
67Long-term depression_Homo sapiens_hsa047300.62516944
68Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.61865426
69Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.60963168
70Gastric acid secretion_Homo sapiens_hsa049710.60525266
71Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.59531051
72Linoleic acid metabolism_Homo sapiens_hsa005910.57525896
73Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.57302558
74Cocaine addiction_Homo sapiens_hsa050300.55674683
75alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.55647782
76Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.54625061
77Retinol metabolism_Homo sapiens_hsa008300.53955398
78Synaptic vesicle cycle_Homo sapiens_hsa047210.52517862
79Melanoma_Homo sapiens_hsa052180.52461386
80cGMP-PKG signaling pathway_Homo sapiens_hsa040220.52353905
81Thyroid hormone synthesis_Homo sapiens_hsa049180.49544511
82Aldosterone synthesis and secretion_Homo sapiens_hsa049250.49533816
83Ovarian steroidogenesis_Homo sapiens_hsa049130.49355497
84Fatty acid degradation_Homo sapiens_hsa000710.48841466
85Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.48228282
86Basal cell carcinoma_Homo sapiens_hsa052170.46965116
87Proteasome_Homo sapiens_hsa030500.46424601
88Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.44886807
89Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.44808760
90Mineral absorption_Homo sapiens_hsa049780.44284314
91Melanogenesis_Homo sapiens_hsa049160.43293895
92Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.42538999
93SNARE interactions in vesicular transport_Homo sapiens_hsa041300.42114352
94Axon guidance_Homo sapiens_hsa043600.41349336
95Inositol phosphate metabolism_Homo sapiens_hsa005620.41238235
96Oxytocin signaling pathway_Homo sapiens_hsa049210.40776684
97Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.40679779
98Vascular smooth muscle contraction_Homo sapiens_hsa042700.40509525
99Chemical carcinogenesis_Homo sapiens_hsa052040.40033125
100Steroid hormone biosynthesis_Homo sapiens_hsa001400.39553816

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