KHDC1

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
1negative regulation of retinoic acid receptor signaling pathway (GO:0048387)7.22840598
2regulation of retinoic acid receptor signaling pathway (GO:0048385)6.24120894
3protein complex biogenesis (GO:0070271)4.30392939
4mitochondrial respiratory chain complex I assembly (GO:0032981)4.22670168
5NADH dehydrogenase complex assembly (GO:0010257)4.22670168
6mitochondrial respiratory chain complex I biogenesis (GO:0097031)4.22670168
7mitochondrial respiratory chain complex assembly (GO:0033108)4.06570476
8respiratory chain complex IV assembly (GO:0008535)3.88144279
9proteasome assembly (GO:0043248)3.69970652
10behavioral response to nicotine (GO:0035095)3.57900198
11cytochrome complex assembly (GO:0017004)3.52542026
12protein-cofactor linkage (GO:0018065)3.46351705
13chaperone-mediated protein transport (GO:0072321)3.36595035
14pseudouridine synthesis (GO:0001522)3.34648224
15water-soluble vitamin biosynthetic process (GO:0042364)3.33614961
16replication fork processing (GO:0031297)3.28915879
17establishment of protein localization to mitochondrial membrane (GO:0090151)3.26536143
18mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.25215073
19DNA replication checkpoint (GO:0000076)3.24528375
20nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.20082135
21L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.19914472
22exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.18606554
23DNA deamination (GO:0045006)3.15104320
24RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.14481779
25tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.14481779
26L-fucose catabolic process (GO:0042355)3.13307059
27fucose catabolic process (GO:0019317)3.13307059
28L-fucose metabolic process (GO:0042354)3.13307059
29transcription elongation from RNA polymerase III promoter (GO:0006385)3.12705823
30termination of RNA polymerase III transcription (GO:0006386)3.12705823
31male meiosis I (GO:0007141)3.04641379
32regulation of nuclear cell cycle DNA replication (GO:0033262)2.98148278
33maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.98032818
34nonmotile primary cilium assembly (GO:0035058)2.93576687
35indolalkylamine metabolic process (GO:0006586)2.91443320
36reciprocal DNA recombination (GO:0035825)2.89519228
37reciprocal meiotic recombination (GO:0007131)2.89519228
38mitochondrial RNA metabolic process (GO:0000959)2.84904251
39tRNA processing (GO:0008033)2.84310537
40recombinational repair (GO:0000725)2.84023878
41kynurenine metabolic process (GO:0070189)2.83976157
42mannosylation (GO:0097502)2.80998395
43double-strand break repair via homologous recombination (GO:0000724)2.80979993
44regulation of cilium movement (GO:0003352)2.80596575
45tryptophan catabolic process (GO:0006569)2.79360887
46indole-containing compound catabolic process (GO:0042436)2.79360887
47indolalkylamine catabolic process (GO:0046218)2.79360887
48detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.79353701
49cellular ketone body metabolic process (GO:0046950)2.76065463
50protein K6-linked ubiquitination (GO:0085020)2.75935352
51peptidyl-histidine modification (GO:0018202)2.75701438
52mitochondrial ATP synthesis coupled proton transport (GO:0042776)2.72896904
53electron transport chain (GO:0022900)2.70653553
54maturation of 5.8S rRNA (GO:0000460)2.68811964
55rRNA modification (GO:0000154)2.68144266
56respiratory electron transport chain (GO:0022904)2.67982407
57RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.66756773
58energy coupled proton transport, down electrochemical gradient (GO:0015985)2.61867222
59ATP synthesis coupled proton transport (GO:0015986)2.61867222
60protein deneddylation (GO:0000338)2.60122687
61L-methionine salvage (GO:0071267)2.60060830
62L-methionine biosynthetic process (GO:0071265)2.60060830
63amino acid salvage (GO:0043102)2.60060830
64meiosis I (GO:0007127)2.59026483
65pyrimidine nucleotide catabolic process (GO:0006244)2.58902549
66negative regulation of DNA-dependent DNA replication (GO:2000104)2.56280774
67preassembly of GPI anchor in ER membrane (GO:0016254)2.56082643
68DNA double-strand break processing (GO:0000729)2.56046659
69regulation of mitochondrial translation (GO:0070129)2.55117675
70resolution of meiotic recombination intermediates (GO:0000712)2.55004195
71protein polyglutamylation (GO:0018095)2.54418709
72transcription from mitochondrial promoter (GO:0006390)2.53838695
73aggressive behavior (GO:0002118)2.51351469
74regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)2.51115066
75regulation of mitotic spindle checkpoint (GO:1903504)2.51115066
76epithelial cilium movement (GO:0003351)2.50867550
77postreplication repair (GO:0006301)2.49232584
78translesion synthesis (GO:0019985)2.48959642
79cullin deneddylation (GO:0010388)2.48953010
80photoreceptor cell maintenance (GO:0045494)2.47140440
81nucleotide-excision repair, DNA gap filling (GO:0006297)2.46449598
82base-excision repair, AP site formation (GO:0006285)2.46108352
83rRNA catabolic process (GO:0016075)2.45496543
84regulation of alternative mRNA splicing, via spliceosome (GO:0000381)2.45203984
85retinal cone cell development (GO:0046549)2.44763248
86synapsis (GO:0007129)2.44391334
87ketone body metabolic process (GO:1902224)2.44104845
88platelet dense granule organization (GO:0060155)2.43996774
89multicellular organism reproduction (GO:0032504)2.43578488
90meiotic chromosome segregation (GO:0045132)2.42809627
91positive regulation of prostaglandin secretion (GO:0032308)2.41960401
92tryptophan metabolic process (GO:0006568)2.40719687
93tRNA modification (GO:0006400)2.39061853
94negative regulation of telomere maintenance (GO:0032205)2.38902955
95DNA damage response, detection of DNA damage (GO:0042769)2.38230474
96detection of light stimulus involved in visual perception (GO:0050908)2.35523821
97detection of light stimulus involved in sensory perception (GO:0050962)2.35523821
98epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.34458606
99pyrimidine deoxyribonucleotide catabolic process (GO:0009223)2.33437560
100piRNA metabolic process (GO:0034587)2.32893398

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.69398813
2ZNF274_21170338_ChIP-Seq_K562_Hela3.61734037
3GABP_17652178_ChIP-ChIP_JURKAT_Human3.24566963
4HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human3.09194701
5EST1_17652178_ChIP-ChIP_JURKAT_Human3.02604064
6VDR_22108803_ChIP-Seq_LS180_Human3.02198394
7EZH2_22144423_ChIP-Seq_EOC_Human2.95597557
8MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.78516451
9GBX2_23144817_ChIP-Seq_PC3_Human2.54941853
10GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.41398105
11ETS1_20019798_ChIP-Seq_JURKAT_Human2.31164507
12NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.23640377
13JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.23286286
14NOTCH1_21737748_ChIP-Seq_TLL_Human2.20761347
15IGF1R_20145208_ChIP-Seq_DFB_Human2.19061919
16HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.18922646
17E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.16682110
18EWS_26573619_Chip-Seq_HEK293_Human2.02237951
19CTBP2_25329375_ChIP-Seq_LNCAP_Human1.98351341
20E2F7_22180533_ChIP-Seq_HELA_Human1.96531540
21ELK1_19687146_ChIP-ChIP_HELA_Human1.95443540
22ZFP57_27257070_Chip-Seq_ESCs_Mouse1.94977313
23VDR_23849224_ChIP-Seq_CD4+_Human1.94523115
24POU3F2_20337985_ChIP-ChIP_501MEL_Human1.93277779
25MYC_18940864_ChIP-ChIP_HL60_Human1.89155585
26CTBP1_25329375_ChIP-Seq_LNCAP_Human1.84098083
27FUS_26573619_Chip-Seq_HEK293_Human1.82965752
28E2F4_17652178_ChIP-ChIP_JURKAT_Human1.78667810
29CREB1_15753290_ChIP-ChIP_HEK293T_Human1.78478347
30IRF1_19129219_ChIP-ChIP_H3396_Human1.74549660
31CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.73093652
32NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.69764884
33FLI1_27457419_Chip-Seq_LIVER_Mouse1.67305693
34P300_19829295_ChIP-Seq_ESCs_Human1.64815657
35GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.63915090
36TAF15_26573619_Chip-Seq_HEK293_Human1.63373781
37EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.53781227
38TP53_22573176_ChIP-Seq_HFKS_Human1.53011219
39FOXP3_21729870_ChIP-Seq_TREG_Human1.51808757
40PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.51799227
41SRF_21415370_ChIP-Seq_HL-1_Mouse1.49906754
42PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.43855509
43MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.42877888
44UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.38876338
45SALL1_21062744_ChIP-ChIP_HESCs_Human1.38186020
46TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.35957439
47ER_23166858_ChIP-Seq_MCF-7_Human1.32925428
48FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.31916816
49FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.27693846
50CBP_20019798_ChIP-Seq_JUKART_Human1.26949017
51IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.26949017
52PADI4_21655091_ChIP-ChIP_MCF-7_Human1.25976876
53GABP_19822575_ChIP-Seq_HepG2_Human1.24231210
54BMI1_23680149_ChIP-Seq_NPCS_Mouse1.22624413
55THAP11_20581084_ChIP-Seq_MESCs_Mouse1.21849161
56CBX2_27304074_Chip-Seq_ESCs_Mouse1.19953095
57TP63_19390658_ChIP-ChIP_HaCaT_Human1.19661757
58SMAD4_21799915_ChIP-Seq_A2780_Human1.17226027
59RNF2_27304074_Chip-Seq_NSC_Mouse1.16878466
60CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.15472074
61STAT3_23295773_ChIP-Seq_U87_Human1.13916644
62POU5F1_16153702_ChIP-ChIP_HESCs_Human1.12735581
63PCGF2_27294783_Chip-Seq_ESCs_Mouse1.12409182
64KLF5_20875108_ChIP-Seq_MESCs_Mouse1.12174927
65TTF2_22483619_ChIP-Seq_HELA_Human1.11284978
66AR_25329375_ChIP-Seq_VCAP_Human1.09430329
67SOX2_19829295_ChIP-Seq_ESCs_Human1.09284393
68NANOG_19829295_ChIP-Seq_ESCs_Human1.09284393
69SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.09104459
70GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.08286497
71NCOR_22424771_ChIP-Seq_293T_Human1.08197372
72REST_21632747_ChIP-Seq_MESCs_Mouse1.06837968
73FOXA1_25329375_ChIP-Seq_VCAP_Human1.06622349
74FOXA1_27270436_Chip-Seq_PROSTATE_Human1.06622349
75TCF4_23295773_ChIP-Seq_U87_Human1.04878516
76AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.04690582
77RBPJ_22232070_ChIP-Seq_NCS_Mouse1.02488228
78TOP2B_26459242_ChIP-Seq_MCF-7_Human1.02042291
79YY1_21170310_ChIP-Seq_MESCs_Mouse1.01953853
80SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.01904007
81BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.00669578
82TCF4_22108803_ChIP-Seq_LS180_Human1.00028713
83TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.98685886
84POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.98685886
85ELF1_17652178_ChIP-ChIP_JURKAT_Human0.98363324
86MYC_18555785_ChIP-Seq_MESCs_Mouse0.96700718
87YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.96174142
88GATA3_21878914_ChIP-Seq_MCF-7_Human0.95242000
89BCAT_22108803_ChIP-Seq_LS180_Human0.95075298
90HCFC1_20581084_ChIP-Seq_MESCs_Mouse0.94706417
91MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.93952011
92NR3C1_21868756_ChIP-Seq_MCF10A_Human0.93499070
93AR_20517297_ChIP-Seq_VCAP_Human0.92492020
94DCP1A_22483619_ChIP-Seq_HELA_Human0.92447378
95SMAD3_21741376_ChIP-Seq_EPCs_Human0.91605107
96RUNX2_22187159_ChIP-Seq_PCA_Human0.91210152
97CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.90970689
98ETV2_25802403_ChIP-Seq_MESCs_Mouse0.90206711
99SMAD4_21741376_ChIP-Seq_EPCs_Human0.89900776
100FOXA1_21572438_ChIP-Seq_LNCaP_Human0.88796580

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0006292_abnormal_olfactory_placode3.30312290
2MP0008877_abnormal_DNA_methylation2.92214810
3MP0008058_abnormal_DNA_repair2.52792157
4MP0002102_abnormal_ear_morphology2.49260746
5MP0003880_abnormal_central_pattern2.26271670
6MP0001968_abnormal_touch/_nociception2.23750010
7MP0009046_muscle_twitch2.16310842
8MP0003195_calcinosis2.14877712
9MP0003718_maternal_effect2.05341411
10MP0002736_abnormal_nociception_after2.04408950
11MP0005551_abnormal_eye_electrophysiolog2.02906222
12MP0010094_abnormal_chromosome_stability2.01346887
13MP0006276_abnormal_autonomic_nervous1.98042729
14MP0000372_irregular_coat_pigmentation1.89024963
15MP0001529_abnormal_vocalization1.86144774
16MP0000569_abnormal_digit_pigmentation1.85040565
17MP0005646_abnormal_pituitary_gland1.80342974
18MP0002938_white_spotting1.79593870
19MP0001986_abnormal_taste_sensitivity1.77504724
20MP0009745_abnormal_behavioral_response1.73837644
21MP0006072_abnormal_retinal_apoptosis1.72087814
22MP0003787_abnormal_imprinting1.69418691
23MP0005423_abnormal_somatic_nervous1.65847494
24MP0002653_abnormal_ependyma_morphology1.59226571
25MP0008057_abnormal_DNA_replication1.57804712
26MP0003693_abnormal_embryo_hatching1.55890990
27MP0002234_abnormal_pharynx_morphology1.55001113
28MP0002163_abnormal_gland_morphology1.54675954
29MP0002272_abnormal_nervous_system1.52204850
30MP0004147_increased_porphyrin_level1.51575264
31MP0004142_abnormal_muscle_tone1.47951820
32MP0000631_abnormal_neuroendocrine_gland1.45410356
33MP0003136_yellow_coat_color1.44343243
34MP0001984_abnormal_olfaction1.43605276
35MP0002160_abnormal_reproductive_system1.40668364
36MP0008789_abnormal_olfactory_epithelium1.40580977
37MP0005253_abnormal_eye_physiology1.40443187
38MP0008872_abnormal_physiological_respon1.39446599
39MP0002735_abnormal_chemical_nociception1.37837349
40MP0002837_dystrophic_cardiac_calcinosis1.34286701
41MP0001486_abnormal_startle_reflex1.33701469
42MP0002572_abnormal_emotion/affect_behav1.31982390
43MP0001485_abnormal_pinna_reflex1.31443581
44MP0003119_abnormal_digestive_system1.31271853
45MP0003786_premature_aging1.29785188
46MP0001293_anophthalmia1.29635695
47MP0005645_abnormal_hypothalamus_physiol1.29571716
48MP0002210_abnormal_sex_determination1.28425126
49MP0001929_abnormal_gametogenesis1.27185557
50MP0003890_abnormal_embryonic-extraembry1.26298995
51MP0001905_abnormal_dopamine_level1.25483247
52MP0002734_abnormal_mechanical_nocicepti1.24407823
53MP0002557_abnormal_social/conspecific_i1.23407425
54MP0008995_early_reproductive_senescence1.17892303
55MP0006035_abnormal_mitochondrial_morpho1.16834457
56MP0005499_abnormal_olfactory_system1.16142512
57MP0005394_taste/olfaction_phenotype1.16142512
58MP0002064_seizures1.16028097
59MP0009697_abnormal_copulation1.14096022
60MP0002733_abnormal_thermal_nociception1.13917842
61MP0002067_abnormal_sensory_capabilities1.13424556
62MP0004133_heterotaxia1.12465135
63MP0008875_abnormal_xenobiotic_pharmacok1.11712136
64MP0003937_abnormal_limbs/digits/tail_de1.10551271
65MP0003698_abnormal_male_reproductive1.09944641
66MP0005379_endocrine/exocrine_gland_phen1.09577859
67MP0000647_abnormal_sebaceous_gland1.08284390
68MP0003646_muscle_fatigue1.07147045
69MP0003121_genomic_imprinting1.05370109
70MP0001501_abnormal_sleep_pattern1.04999866
71MP0000427_abnormal_hair_cycle1.04313382
72MP0003635_abnormal_synaptic_transmissio1.04045025
73MP0001970_abnormal_pain_threshold1.03240243
74MP0006036_abnormal_mitochondrial_physio1.02812512
75MP0005410_abnormal_fertilization1.02702807
76MP0000653_abnormal_sex_gland1.01983844
77MP0004145_abnormal_muscle_electrophysio1.01410804
78MP0000049_abnormal_middle_ear1.01269280
79MP0000778_abnormal_nervous_system0.99522259
80MP0002638_abnormal_pupillary_reflex0.98132654
81MP0005389_reproductive_system_phenotype0.96619667
82MP0004742_abnormal_vestibular_system0.96460803
83MP0001145_abnormal_male_reproductive0.96344651
84MP0002751_abnormal_autonomic_nervous0.95017552
85MP0002184_abnormal_innervation0.93988416
86MP0008932_abnormal_embryonic_tissue0.92865050
87MP0003950_abnormal_plasma_membrane0.92370392
88MP0005386_behavior/neurological_phenoty0.89792909
89MP0004924_abnormal_behavior0.89792909
90MP0001764_abnormal_homeostasis0.89721719
91MP0002095_abnormal_skin_pigmentation0.88821690
92MP0005084_abnormal_gallbladder_morpholo0.87672137
93MP0003077_abnormal_cell_cycle0.86438305
94MP0002752_abnormal_somatic_nervous0.85428677
95MP0005195_abnormal_posterior_eye0.85227568
96MP0008775_abnormal_heart_ventricle0.83927751
97MP0001963_abnormal_hearing_physiology0.82999493
98MP0005174_abnormal_tail_pigmentation0.82488045
99MP0004885_abnormal_endolymph0.82451675
100MP0003111_abnormal_nucleus_morphology0.82359928

Predicted human phenotypes

RankGene SetZ-score
1Pancreatic cysts (HP:0001737)3.89670838
2Pancreatic fibrosis (HP:0100732)3.54728829
3Molar tooth sign on MRI (HP:0002419)3.45438244
4Abnormality of midbrain morphology (HP:0002418)3.45438244
5True hermaphroditism (HP:0010459)3.33428900
6Acute necrotizing encephalopathy (HP:0006965)3.17669080
7Medial flaring of the eyebrow (HP:0010747)3.07281239
8Abnormality of alanine metabolism (HP:0010916)3.06613490
9Hyperalaninemia (HP:0003348)3.06613490
10Abnormality of pyruvate family amino acid metabolism (HP:0010915)3.06613490
11Mitochondrial inheritance (HP:0001427)3.04386020
12Increased CSF lactate (HP:0002490)3.02944212
13Abnormal mitochondria in muscle tissue (HP:0008316)2.99475080
14Nephronophthisis (HP:0000090)2.95434424
15Acute encephalopathy (HP:0006846)2.77210952
16Birth length less than 3rd percentile (HP:0003561)2.75469246
17Congenital stationary night blindness (HP:0007642)2.73502641
18Hepatocellular necrosis (HP:0001404)2.73481899
19Type II lissencephaly (HP:0007260)2.71497592
20Hepatic necrosis (HP:0002605)2.66089506
21Progressive macrocephaly (HP:0004481)2.65470096
22Aplasia/Hypoplasia of the tibia (HP:0005772)2.62819062
23Gait imbalance (HP:0002141)2.60786033
24Congenital primary aphakia (HP:0007707)2.58310087
253-Methylglutaconic aciduria (HP:0003535)2.55858815
26Abnormality of the renal medulla (HP:0100957)2.49315212
27Abnormality of the renal cortex (HP:0011035)2.47064441
28Methylmalonic aciduria (HP:0012120)2.45574756
29Increased serum lactate (HP:0002151)2.43139753
30Abnormal rod and cone electroretinograms (HP:0008323)2.42369820
31Pendular nystagmus (HP:0012043)2.42269689
32Methylmalonic acidemia (HP:0002912)2.40922747
33Nephrogenic diabetes insipidus (HP:0009806)2.40561520
34Absent rod-and cone-mediated responses on ERG (HP:0007688)2.39160964
35Aplasia/Hypoplasia of the tongue (HP:0010295)2.37499047
36Attenuation of retinal blood vessels (HP:0007843)2.31380031
37Sclerocornea (HP:0000647)2.30448121
38Progressive inability to walk (HP:0002505)2.28811507
39Genital tract atresia (HP:0001827)2.25077702
40Short tibia (HP:0005736)2.22648019
41Retinal dysplasia (HP:0007973)2.22216261
42Concave nail (HP:0001598)2.19432309
43Hyperventilation (HP:0002883)2.17348364
44Lissencephaly (HP:0001339)2.17033842
45Vaginal atresia (HP:0000148)2.15824583
46Abolished electroretinogram (ERG) (HP:0000550)2.13367080
47Aplasia/Hypoplasia of the uvula (HP:0010293)2.12972270
48Renal cortical cysts (HP:0000803)2.12758811
49Chromsome breakage (HP:0040012)2.12375584
50Focal motor seizures (HP:0011153)2.11937864
51Inability to walk (HP:0002540)2.10171415
52Lactic acidosis (HP:0003128)2.09839096
53Meckel diverticulum (HP:0002245)2.08540749
54Cerebellar dysplasia (HP:0007033)2.07791316
55Colon cancer (HP:0003003)2.06649549
56Cystic liver disease (HP:0006706)2.06181910
57Abnormality of the labia minora (HP:0012880)2.04984388
58Chromosomal breakage induced by crosslinking agents (HP:0003221)2.04391211
59Abnormality of the ileum (HP:0001549)2.03914395
60Anencephaly (HP:0002323)2.03457394
61Lipid accumulation in hepatocytes (HP:0006561)2.00356250
62Decreased central vision (HP:0007663)2.00329714
63Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.99397649
64Optic nerve hypoplasia (HP:0000609)1.99031913
65Abnormality of the pons (HP:0007361)1.98569335
66Increased hepatocellular lipid droplets (HP:0006565)1.97520818
67Broad-based gait (HP:0002136)1.96430999
68Hypothermia (HP:0002045)1.95796081
69Gaze-evoked nystagmus (HP:0000640)1.93142105
70Aplasia/Hypoplasia of the patella (HP:0006498)1.92473467
71Occipital encephalocele (HP:0002085)1.91790864
72Optic disc pallor (HP:0000543)1.91350612
73Bony spicule pigmentary retinopathy (HP:0007737)1.90884715
74Patellar aplasia (HP:0006443)1.90654906
75Dialeptic seizures (HP:0011146)1.89736260
76Abnormal protein glycosylation (HP:0012346)1.89124030
77Abnormal glycosylation (HP:0012345)1.89124030
78Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.89124030
79Abnormal protein N-linked glycosylation (HP:0012347)1.89124030
80Type I transferrin isoform profile (HP:0003642)1.88264842
81Postaxial foot polydactyly (HP:0001830)1.87750866
82Hypoplasia of the pons (HP:0012110)1.87550905
83Decreased activity of mitochondrial respiratory chain (HP:0008972)1.87254933
84Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.87254933
85Chronic hepatic failure (HP:0100626)1.86915507
86Severe muscular hypotonia (HP:0006829)1.86727337
87Preaxial hand polydactyly (HP:0001177)1.86289737
88Cerebral edema (HP:0002181)1.85959909
89Tubular atrophy (HP:0000092)1.85664868
90Congenital hepatic fibrosis (HP:0002612)1.85641345
91Progressive microcephaly (HP:0000253)1.79701603
92Poor coordination (HP:0002370)1.79310951
93Large for gestational age (HP:0001520)1.78186160
94Renal Fanconi syndrome (HP:0001994)1.77873327
95Aplasia/hypoplasia of the uterus (HP:0008684)1.75699137
96Decreased electroretinogram (ERG) amplitude (HP:0000654)1.74442271
97Pachygyria (HP:0001302)1.74350054
98Furrowed tongue (HP:0000221)1.74060835
99Absent thumb (HP:0009777)1.73826108
100Respiratory failure (HP:0002878)1.72607812

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK4.22083323
2WNK33.00756097
3VRK22.89443090
4ZAK2.63669331
5BMPR1B2.48640536
6NUAK12.36205733
7STK162.18455204
8CASK2.13691202
9ADRBK22.13596466
10MAP4K22.05388006
11SRPK12.03991164
12BUB11.99994120
13TAOK31.93213834
14TLK11.90483777
15ACVR1B1.87711231
16MAPK131.82284813
17PINK11.81581241
18TRIM281.79240249
19CDC71.78627577
20GRK11.75389647
21VRK11.72588324
22PLK41.63464612
23MAP3K41.54741327
24PNCK1.53162285
25TNIK1.43558268
26INSRR1.33591240
27MST41.27450565
28PLK31.26415747
29EPHA41.26410059
30BRSK21.22056643
31MKNK21.19530964
32DYRK21.18593548
33WEE11.17056201
34BCKDK1.14923429
35MAP2K71.11809957
36PBK1.11663512
37PLK11.11161084
38CSNK1G31.09444967
39TAF11.08989341
40CSNK1G11.07999846
41NME11.05450133
42WNK41.02515519
43OXSR11.01717612
44PLK20.97962508
45PDK20.97781433
46CHEK20.97756820
47CSNK1G20.97465944
48STK390.96895137
49ATR0.94667388
50CSNK1A1L0.93848286
51MARK10.90722447
52ADRBK10.88499931
53MKNK10.86537817
54LIMK10.86140705
55BCR0.81793070
56EIF2AK30.81006893
57PRKCG0.77973401
58DAPK20.77956191
59NTRK30.77782144
60PAK30.74009412
61STK38L0.72658973
62RPS6KA50.67585820
63PRKCE0.67144510
64AURKA0.66047093
65KDR0.66043280
66DYRK30.65910737
67NEK10.65572278
68FLT30.62303413
69PHKG10.60675886
70PHKG20.60675886
71MINK10.60419468
72AURKB0.59456664
73CAMK2A0.59066206
74PTK2B0.55573407
75TTK0.55241582
76PRKCI0.53972101
77ATM0.53796671
78MAPKAPK50.53519549
79MUSK0.52715185
80CAMKK20.52528715
81MAP2K60.52333014
82TSSK60.51513020
83BRSK10.51065609
84CCNB10.48756015
85MAP3K120.48607083
86CSNK1A10.44681500
87EIF2AK20.44057751
88PKN10.42967570
89DAPK10.42327545
90TESK20.42177875
91CSNK2A10.41999670
92CDK190.41338169
93MAP3K90.40929914
94CDK80.40148726
95ERBB30.39106852
96PRKACA0.39100398
97TGFBR10.38670890
98CHEK10.38120797
99EIF2AK10.37816829
100CSNK1D0.37782599

Predicted pathways (KEGG)

RankGene SetZ-score
1RNA polymerase_Homo sapiens_hsa030203.10251163
2Homologous recombination_Homo sapiens_hsa034402.97993184
3Oxidative phosphorylation_Homo sapiens_hsa001902.89560089
4Parkinsons disease_Homo sapiens_hsa050122.57372710
5Proteasome_Homo sapiens_hsa030502.37930087
6Fanconi anemia pathway_Homo sapiens_hsa034602.33505983
7Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.28864535
8Protein export_Homo sapiens_hsa030602.16390230
9Mismatch repair_Homo sapiens_hsa034302.16345304
10Basal transcription factors_Homo sapiens_hsa030222.16014910
11Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.13881813
12DNA replication_Homo sapiens_hsa030302.12776290
13Huntingtons disease_Homo sapiens_hsa050161.97989105
14Phototransduction_Homo sapiens_hsa047441.97784286
15Butanoate metabolism_Homo sapiens_hsa006501.95128879
16Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.88289756
17Ribosome_Homo sapiens_hsa030101.79568832
18Base excision repair_Homo sapiens_hsa034101.78877680
19Nicotine addiction_Homo sapiens_hsa050331.74199275
20Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.71157624
21Non-homologous end-joining_Homo sapiens_hsa034501.68110176
22Pyrimidine metabolism_Homo sapiens_hsa002401.65652952
23Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.63441573
24RNA degradation_Homo sapiens_hsa030181.60315477
25Alzheimers disease_Homo sapiens_hsa050101.54858742
26Nucleotide excision repair_Homo sapiens_hsa034201.51886828
27One carbon pool by folate_Homo sapiens_hsa006701.41136285
28Purine metabolism_Homo sapiens_hsa002301.41109101
29Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.40093256
30RNA transport_Homo sapiens_hsa030131.39312286
31Propanoate metabolism_Homo sapiens_hsa006401.39123739
32Selenocompound metabolism_Homo sapiens_hsa004501.37685833
33Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.32319666
34Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.29886653
35Cardiac muscle contraction_Homo sapiens_hsa042601.28460519
36Taste transduction_Homo sapiens_hsa047421.27010003
37Nitrogen metabolism_Homo sapiens_hsa009101.25519975
38Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.23306925
39Tryptophan metabolism_Homo sapiens_hsa003801.20002654
40Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.19116767
41Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.18838782
42Maturity onset diabetes of the young_Homo sapiens_hsa049501.18495654
43Steroid biosynthesis_Homo sapiens_hsa001001.17984465
44Folate biosynthesis_Homo sapiens_hsa007901.15811012
45Regulation of autophagy_Homo sapiens_hsa041401.13972406
46Fatty acid elongation_Homo sapiens_hsa000621.13909852
47Cysteine and methionine metabolism_Homo sapiens_hsa002701.13879891
48Spliceosome_Homo sapiens_hsa030401.12845338
49Peroxisome_Homo sapiens_hsa041461.09733769
50Olfactory transduction_Homo sapiens_hsa047401.08274610
51Linoleic acid metabolism_Homo sapiens_hsa005911.07223187
52Sulfur relay system_Homo sapiens_hsa041220.99041800
53alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.95986454
54Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.95678179
55Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.92603788
56GABAergic synapse_Homo sapiens_hsa047270.90820596
57Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.88501500
58Sulfur metabolism_Homo sapiens_hsa009200.87197757
59Morphine addiction_Homo sapiens_hsa050320.85949834
60Metabolic pathways_Homo sapiens_hsa011000.80108338
61Ether lipid metabolism_Homo sapiens_hsa005650.78090401
62Cell cycle_Homo sapiens_hsa041100.77086986
63Collecting duct acid secretion_Homo sapiens_hsa049660.76869785
64Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.74524583
65beta-Alanine metabolism_Homo sapiens_hsa004100.71764311
66Oocyte meiosis_Homo sapiens_hsa041140.70727403
67Circadian entrainment_Homo sapiens_hsa047130.69169458
68Serotonergic synapse_Homo sapiens_hsa047260.65363382
69SNARE interactions in vesicular transport_Homo sapiens_hsa041300.65103020
70Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.64155889
71Primary bile acid biosynthesis_Homo sapiens_hsa001200.60174524
72Glutathione metabolism_Homo sapiens_hsa004800.59508387
73Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.58201058
74Pyruvate metabolism_Homo sapiens_hsa006200.57135335
75Insulin secretion_Homo sapiens_hsa049110.56880350
76Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.55196457
77Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.54667404
78Steroid hormone biosynthesis_Homo sapiens_hsa001400.50671150
79Caffeine metabolism_Homo sapiens_hsa002320.49330224
80Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.48955815
81Glutamatergic synapse_Homo sapiens_hsa047240.48689724
82Salivary secretion_Homo sapiens_hsa049700.48424572
83mRNA surveillance pathway_Homo sapiens_hsa030150.48367486
84Chemical carcinogenesis_Homo sapiens_hsa052040.47344061
85Retinol metabolism_Homo sapiens_hsa008300.44945959
86Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.44453319
87Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.44182617
88p53 signaling pathway_Homo sapiens_hsa041150.43652072
89Calcium signaling pathway_Homo sapiens_hsa040200.40926416
90ABC transporters_Homo sapiens_hsa020100.38131159
91Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.35958263
92Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.35668783
93Dopaminergic synapse_Homo sapiens_hsa047280.34795505
94Arginine and proline metabolism_Homo sapiens_hsa003300.33954199
95Fatty acid metabolism_Homo sapiens_hsa012120.32923545
96Hedgehog signaling pathway_Homo sapiens_hsa043400.32388272
97Arachidonic acid metabolism_Homo sapiens_hsa005900.31433726
98Synaptic vesicle cycle_Homo sapiens_hsa047210.30670688
99Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.30644062
100Ovarian steroidogenesis_Homo sapiens_hsa049130.29832690

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