KHDC3L

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: The protein encoded by this gene belongs to the KHDC1 family, members of which contain an atypical KH domain that may not bind RNA like canonical KH domains. This gene is specifically expressed in the oocytes, and recent studies suggest that it may function as a regulator of genomic imprinting in the oocyte. Mutations in this gene are associated with recurrent biparental complete hydatidiform mole. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of DNA methylation (GO:0044030)8.98492931
2regulation of female gonad development (GO:2000194)8.73195871
3regulation of acrosome reaction (GO:0060046)8.57278151
4piRNA metabolic process (GO:0034587)7.65250377
5multicellular organism reproduction (GO:0032504)6.83349801
6meiotic cell cycle (GO:0051321)6.71825253
7oocyte development (GO:0048599)6.21276056
8mitotic chromosome condensation (GO:0007076)5.87995269
9protein kinase C signaling (GO:0070528)5.87688615
10regulation of meiosis I (GO:0060631)5.59814959
11DNA methylation involved in gamete generation (GO:0043046)5.52540826
12negative regulation of reproductive process (GO:2000242)5.47906663
13male meiosis I (GO:0007141)5.22853828
14positive regulation of histone H3-K4 methylation (GO:0051571)5.16696114
15regulation of histone H3-K9 methylation (GO:0051570)5.16407690
16positive regulation of humoral immune response (GO:0002922)5.09630884
17positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.06729038
18glycine transport (GO:0015816)4.99573987
19retinal cone cell development (GO:0046549)4.92360255
20female gamete generation (GO:0007292)4.81893744
21mitotic metaphase plate congression (GO:0007080)4.66639020
22reproduction (GO:0000003)4.58026680
23protein localization to chromosome, centromeric region (GO:0071459)4.49804382
24meiosis I (GO:0007127)4.48007086
25binding of sperm to zona pellucida (GO:0007339)4.36943257
26regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)4.36688111
27positive regulation of uterine smooth muscle contraction (GO:0070474)4.27143144
28DNA replication checkpoint (GO:0000076)4.19572540
29gene silencing by RNA (GO:0031047)4.17115611
30negative regulation of histone methylation (GO:0031061)4.14234689
31regulation of steroid hormone secretion (GO:2000831)4.13668704
32positive regulation of chromosome segregation (GO:0051984)4.09155564
33male meiosis (GO:0007140)3.91593292
34attachment of spindle microtubules to kinetochore (GO:0008608)3.85794730
35synapsis (GO:0007129)3.85570543
36protein localization to kinetochore (GO:0034501)3.84433433
37primitive streak formation (GO:0090009)3.83773011
38somatic diversification of immune receptors via somatic mutation (GO:0002566)3.81035689
39somatic hypermutation of immunoglobulin genes (GO:0016446)3.81035689
40metaphase plate congression (GO:0051310)3.79608167
41regulation of spindle organization (GO:0090224)3.79548773
42positive regulation of reproductive process (GO:2000243)3.78348055
43fertilization (GO:0009566)3.71363336
44hyperosmotic salinity response (GO:0042538)3.66075436
45DNA methylation (GO:0006306)3.65589248
46DNA alkylation (GO:0006305)3.65589248
47single fertilization (GO:0007338)3.63487450
48positive regulation of mitotic metaphase/anaphase transition (GO:0045842)3.56311409
49positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)3.56311409
50positive regulation of mitotic sister chromatid separation (GO:1901970)3.56311409
51regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.56145188
52regulation of uterine smooth muscle contraction (GO:0070472)3.55043318
53chromatin assembly (GO:0031497)3.52021535
54meiotic nuclear division (GO:0007126)3.48698773
55aggressive behavior (GO:0002118)3.45068056
56establishment of chromosome localization (GO:0051303)3.44342933
57histone H3-K9 demethylation (GO:0033169)3.43082942
58regulation of female receptivity (GO:0045924)3.40142953
59sperm-egg recognition (GO:0035036)3.35808851
60regulation of cytokine production involved in inflammatory response (GO:1900015)3.34918975
61cellular response to pH (GO:0071467)3.34427657
62L-amino acid import (GO:0043092)3.33444346
63N-terminal protein amino acid acetylation (GO:0006474)3.25740875
64regulation of histone methylation (GO:0031060)3.25048237
65CENP-A containing nucleosome assembly (GO:0034080)3.23482436
66regulation of meiosis (GO:0040020)3.23207902
67regulation of histone H3-K4 methylation (GO:0051569)3.23141360
68regulation of reproductive process (GO:2000241)3.21505116
69response to acidic pH (GO:0010447)3.20485413
70positive regulation of gastrulation (GO:2000543)3.20216957
71DNA replication-dependent nucleosome assembly (GO:0006335)3.18538502
72DNA replication-dependent nucleosome organization (GO:0034723)3.18538502
73meiotic cell cycle process (GO:1903046)3.17699094
74phosphorelay signal transduction system (GO:0000160)3.17394197
75regulation of RNA export from nucleus (GO:0046831)3.15699876
76positive regulation of histone methylation (GO:0031062)3.13798577
77regulation of G2/M transition of mitotic cell cycle (GO:0010389)3.08079901
78regulation of calcium ion-dependent exocytosis (GO:0017158)3.07098823
79gene silencing (GO:0016458)3.04635426
80regulation of steroid hormone biosynthetic process (GO:0090030)3.03027040
81regulation of chromatin silencing (GO:0031935)3.02747243
82female mating behavior (GO:0060180)3.01985413
83regulation of G0 to G1 transition (GO:0070316)3.01443536
84chromatin remodeling at centromere (GO:0031055)2.99047521
85synaptonemal complex assembly (GO:0007130)2.98475571
86chromosome organization involved in meiosis (GO:0070192)2.96152306
87protein localization to chromosome (GO:0034502)2.93957758
88regulation of cell maturation (GO:1903429)2.89534642
89sleep (GO:0030431)2.86392457
90citrulline biosynthetic process (GO:0019240)2.86294438
91spindle assembly involved in mitosis (GO:0090307)2.84736221
92regulation of cell cycle G2/M phase transition (GO:1902749)2.82129882
93chromatin assembly or disassembly (GO:0006333)2.81757698
94drinking behavior (GO:0042756)2.80138062
95regulation of meiotic cell cycle (GO:0051445)2.79967551
96regulation of exit from mitosis (GO:0007096)2.79554863
97positive regulation of meiosis (GO:0045836)2.77859107
98centriole replication (GO:0007099)2.77363493
99negative regulation of retinoic acid receptor signaling pathway (GO:0048387)19.3147224
100regulation of retinoic acid receptor signaling pathway (GO:0048385)16.2347322

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human5.51819625
2KLF2_18264089_ChIP-ChIP_MESCs_Mouse3.82296649
3KLF5_18264089_ChIP-ChIP_MESCs_Mouse3.82296649
4KLF4_18264089_ChIP-ChIP_MESCs_Mouse3.82296649
5E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.76758121
6NOTCH1_21737748_ChIP-Seq_TLL_Human3.67127405
7MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse3.30410330
8TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat3.29141051
9FOXM1_23109430_ChIP-Seq_U2OS_Human3.16647466
10FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.80412615
11HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.68572147
12TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.55981749
13RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.25628765
14GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.25432527
15KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.16608934
16TP63_19390658_ChIP-ChIP_HaCaT_Human2.13616662
17CREB1_15753290_ChIP-ChIP_HEK293T_Human2.04859934
18EZH2_22144423_ChIP-Seq_EOC_Human13.0589441
19FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.99762179
20E2F4_17652178_ChIP-ChIP_JURKAT_Human1.93217422
21BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.89078327
22NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.72020899
23AR_21909140_ChIP-Seq_LNCAP_Human1.69945403
24HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.69356190
25POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.66759717
26GATA1_26923725_Chip-Seq_HPCs_Mouse1.65758695
27YY1_21170310_ChIP-Seq_MESCs_Mouse1.63715458
28NANOG_18555785_ChIP-Seq_MESCs_Mouse1.58194712
29MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.54979465
30IRF1_19129219_ChIP-ChIP_H3396_Human1.54502765
31ZNF274_21170338_ChIP-Seq_K562_Hela1.49479559
32PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.46810704
33MYC_18555785_ChIP-Seq_MESCs_Mouse1.38160782
34TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.37835678
35MYC_19079543_ChIP-ChIP_MESCs_Mouse1.36518165
36EST1_17652178_ChIP-ChIP_JURKAT_Human1.31793354
37THAP11_20581084_ChIP-Seq_MESCs_Mouse1.31011567
38FOXP3_21729870_ChIP-Seq_TREG_Human1.28867589
39ETS1_20019798_ChIP-Seq_JURKAT_Human1.24664297
40PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.18504031
41NELFA_20434984_ChIP-Seq_ESCs_Mouse1.11998173
42HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.10878317
43JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.08047252
44ESR1_15608294_ChIP-ChIP_MCF-7_Human1.08005495
45CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.06838346
46NANOG_20526341_ChIP-Seq_ESCs_Human1.06018074
47GABP_17652178_ChIP-ChIP_JURKAT_Human1.04879210
48MYC_18358816_ChIP-ChIP_MESCs_Mouse1.02445566
49NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.00092045
50MYC_18940864_ChIP-ChIP_HL60_Human0.98536630
51MYC_19030024_ChIP-ChIP_MESCs_Mouse0.96769909
52TTF2_22483619_ChIP-Seq_HELA_Human0.93634431
53CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.91261856
54SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.90412454
55FOXH1_21741376_ChIP-Seq_EPCs_Human0.90145718
56OCT4_19829295_ChIP-Seq_ESCs_Human0.90011428
57SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.89297094
58CTCF_20526341_ChIP-Seq_ESCs_Human0.89145785
59LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse0.87003416
60CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.86282563
61TP53_22573176_ChIP-Seq_HFKS_Human0.85287896
62VDR_23849224_ChIP-Seq_CD4+_Human0.83718353
63KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.81755705
64SOX2_21211035_ChIP-Seq_LN229_Human0.80865408
65E2F1_21310950_ChIP-Seq_MCF-7_Human0.80617133
66KLF4_19829295_ChIP-Seq_ESCs_Human0.80328165
67NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.77586286
68CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.77436043
69NFYB_21822215_ChIP-Seq_K562_Human0.74604238
70GABP_19822575_ChIP-Seq_HepG2_Human0.74215876
71E2F1_17053090_ChIP-ChIP_MCF-7_Human0.73473360
72CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.73384704
73E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.71522596
74RBPJ_21746931_ChIP-Seq_IB4_Human0.70974454
75ZFP322A_24550733_ChIP-Seq_MESCs_Mouse0.70032208
76SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.68989022
77MYCN_18555785_ChIP-Seq_MESCs_Mouse0.68872848
78EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.68398320
79P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.68285041
80RAC3_21632823_ChIP-Seq_H3396_Human0.68101876
81TBL1_22424771_ChIP-Seq_293T_Human0.67867322
82ETV1_20927104_ChIP-Seq_GIST48_Human0.67346488
83CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.67120049
84BCOR_27268052_Chip-Seq_Bcells_Human0.66842750
85KAP1_22055183_ChIP-Seq_ESCs_Mouse0.66791051
86CTCF_21964334_Chip-Seq_Bcells_Human0.66418086
87UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.66222581
88BCL6_25482012_ChIP-Seq_CML-JURL-MK1_Human0.65944564
89CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.65474657
90GATA1_19941827_ChIP-Seq_MEL86_Mouse0.65152126
91FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.64146082
92AUTS2_25519132_ChIP-Seq_293T-REX_Human0.63491684
93OCT4_20526341_ChIP-Seq_ESCs_Human0.63375196
94POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.63203600
95PRDM14_20953172_ChIP-Seq_ESCs_Human0.62584642
96CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.62100180
97TCF3_18692474_ChIP-Seq_MESCs_Mouse0.61820187
98SOX2_18555785_ChIP-Seq_MESCs_Mouse0.61455620
99SALL1_21062744_ChIP-ChIP_HESCs_Human0.60745282
100HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human0.60289658

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003718_maternal_effect7.42565340
2MP0006292_abnormal_olfactory_placode4.67689976
3MP0008877_abnormal_DNA_methylation4.07156124
4MP0003693_abnormal_embryo_hatching3.65984792
5MP0005394_taste/olfaction_phenotype3.30999692
6MP0005499_abnormal_olfactory_system3.30999692
7MP0008057_abnormal_DNA_replication3.23432246
8MP0008789_abnormal_olfactory_epithelium3.18775346
9MP0008058_abnormal_DNA_repair2.96240423
10MP0005395_other_phenotype2.89372335
11MP0003890_abnormal_embryonic-extraembry2.63707606
12MP0010094_abnormal_chromosome_stability2.61432465
13MP0003699_abnormal_female_reproductive2.51890516
14MP0003077_abnormal_cell_cycle2.50867508
15MP0001929_abnormal_gametogenesis2.50543413
16MP0002210_abnormal_sex_determination2.41670041
17MP0009379_abnormal_foot_pigmentation2.35197122
18MP0003111_abnormal_nucleus_morphology2.34990563
19MP0005360_urolithiasis2.25631209
20MP0010030_abnormal_orbit_morphology2.15810955
21MP0010368_abnormal_lymphatic_system2.08612379
22MP0002139_abnormal_hepatobiliary_system1.95766378
23MP0002138_abnormal_hepatobiliary_system1.90240386
24MP0004957_abnormal_blastocyst_morpholog1.88434336
25MP0003879_abnormal_hair_cell1.84846545
26MP0000653_abnormal_sex_gland1.82561557
27MP0010307_abnormal_tumor_latency1.79054919
28MP0002161_abnormal_fertility/fecundity1.76621401
29MP0001730_embryonic_growth_arrest1.74743979
30MP0001986_abnormal_taste_sensitivity1.74437699
31MP0009840_abnormal_foam_cell1.73693410
32MP0008932_abnormal_embryonic_tissue1.72694440
33MP0002160_abnormal_reproductive_system1.66215495
34MP0003950_abnormal_plasma_membrane1.55837887
35MP0003121_genomic_imprinting1.55075111
36MP0005410_abnormal_fertilization1.49204269
37MP0000566_synostosis1.44500279
38MP0001119_abnormal_female_reproductive1.44491661
39MP0001145_abnormal_male_reproductive1.44391703
40MP0005380_embryogenesis_phenotype1.39926660
41MP0001672_abnormal_embryogenesis/_devel1.39926660
42MP0003698_abnormal_male_reproductive1.32736541
43MP0003183_abnormal_peptide_metabolism1.27496497
44MP0005389_reproductive_system_phenotype1.23781686
45MP0010234_abnormal_vibrissa_follicle1.21777947
46MP0000350_abnormal_cell_proliferation1.21358185
47MP0004142_abnormal_muscle_tone1.19721729
48MP0005647_abnormal_sex_gland1.16818208
49MP0006276_abnormal_autonomic_nervous1.15418234
50MP0002233_abnormal_nose_morphology1.14545524
51MP0005646_abnormal_pituitary_gland1.13830276
52MP0002234_abnormal_pharynx_morphology1.11998151
53MP0000631_abnormal_neuroendocrine_gland1.11352286
54MP0004233_abnormal_muscle_weight1.08727777
55MP0000049_abnormal_middle_ear1.06988093
56MP0003119_abnormal_digestive_system1.05680290
57MP0001293_anophthalmia1.03181029
58MP0002127_abnormal_cardiovascular_syste0.99736141
59MP0002084_abnormal_developmental_patter0.94519489
60MP0005423_abnormal_somatic_nervous0.89988306
61MP0002085_abnormal_embryonic_tissue0.82828092
62MP0000678_abnormal_parathyroid_gland0.82121561
63MP0002796_impaired_skin_barrier0.82048354
64MP0003646_muscle_fatigue0.79429809
65MP0002163_abnormal_gland_morphology0.78991989
66MP0003136_yellow_coat_color0.78400200
67MP0000762_abnormal_tongue_morphology0.78360104
68MP0003984_embryonic_growth_retardation0.77941160
69MP0002272_abnormal_nervous_system0.75616365
70MP0005551_abnormal_eye_electrophysiolog0.74888761
71MP0002088_abnormal_embryonic_growth/wei0.73043608
72MP0002089_abnormal_postnatal_growth/wei0.72951446
73MP0001697_abnormal_embryo_size0.72306495
74MP0000015_abnormal_ear_pigmentation0.71795263
75MP0005501_abnormal_skin_physiology0.71096911
76MP0001502_abnormal_circadian_rhythm0.66860174
77MP0002080_prenatal_lethality0.65505466
78MP0001881_abnormal_mammary_gland0.64127706
79MP0005075_abnormal_melanosome_morpholog0.63703226
80MP0000313_abnormal_cell_death0.63539702
81MP0001984_abnormal_olfaction0.63316170
82MP0008995_early_reproductive_senescence0.62635382
83MP0002873_normal_phenotype0.62393286
84MP0002169_no_abnormal_phenotype0.62128931
85MP0001324_abnormal_eye_pigmentation0.58781015
86MP0001666_abnormal_nutrient_absorption0.55664672
87MP0001664_abnormal_digestion0.54253380
88MP0003935_abnormal_craniofacial_develop0.53273439
89MP0009333_abnormal_splenocyte_physiolog0.52325341
90MP0001919_abnormal_reproductive_system0.52122874
91MP0000427_abnormal_hair_cycle0.51954562
92MP0003186_abnormal_redox_activity0.50098546
93MP0003861_abnormal_nervous_system0.48559125
94MP0000428_abnormal_craniofacial_morphol0.47876808
95MP0003959_abnormal_lean_body0.47531360
96MP0008260_abnormal_autophagy0.44402301
97MP0006035_abnormal_mitochondrial_morpho0.43378377
98MP0005085_abnormal_gallbladder_physiolo0.43274786
99MP0005319_abnormal_enzyme/_coenzyme0.41990536
100MP0000358_abnormal_cell_content/0.41599195

Predicted human phenotypes

RankGene SetZ-score
1Male infertility (HP:0003251)6.06325045
2Abdominal situs inversus (HP:0003363)5.64873327
3Abnormality of abdominal situs (HP:0011620)5.64873327
4Aplasia/Hypoplasia of the fovea (HP:0008060)5.37837599
5Hypoplasia of the fovea (HP:0007750)5.37837599
6Osteomalacia (HP:0002749)5.30014142
7Impulsivity (HP:0100710)5.13054242
8Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)5.12020309
9Premature ovarian failure (HP:0008209)4.88245418
10Abnormality of the fovea (HP:0000493)4.30781995
11Anterior segment dysgenesis (HP:0007700)4.19126048
12Malnutrition (HP:0004395)4.02899069
13Chromosomal breakage induced by crosslinking agents (HP:0003221)3.99917591
14Infertility (HP:0000789)3.88336814
15Hypophosphatemic rickets (HP:0004912)3.88307203
16Chromsome breakage (HP:0040012)3.75183224
17Cholecystitis (HP:0001082)3.59388976
18Abnormal gallbladder physiology (HP:0012438)3.59388976
19Hypercortisolism (HP:0001578)3.57989738
20Lip pit (HP:0100267)3.50491639
21Aplasia/Hypoplasia of the macula (HP:0008059)3.40178754
22Septo-optic dysplasia (HP:0100842)3.20736818
23Aplasia/Hypoplasia affecting the retina (HP:0008061)3.11292731
24Supernumerary spleens (HP:0009799)3.06401274
25Facial hemangioma (HP:0000329)3.00923540
26Gonadotropin excess (HP:0000837)2.98869144
27Short tibia (HP:0005736)2.98534102
28Apathy (HP:0000741)2.95493856
29Myokymia (HP:0002411)2.92500544
30Hypokinesia (HP:0002375)2.91046457
31Azoospermia (HP:0000027)2.86797439
32Diminished motivation (HP:0000745)2.77299234
33Hypergonadotropic hypogonadism (HP:0000815)2.74882680
34Median cleft lip (HP:0000161)2.74662769
35Muscle stiffness (HP:0003552)2.69285552
36Absent septum pellucidum (HP:0001331)2.65847325
37Generalized aminoaciduria (HP:0002909)2.60079811
38Aplasia/Hypoplasia of the tibia (HP:0005772)2.56228473
39Carpal bone hypoplasia (HP:0001498)2.50703104
40Oligodactyly (hands) (HP:0001180)2.49021979
41Papillary thyroid carcinoma (HP:0002895)2.44337975
42Proximal tubulopathy (HP:0000114)2.43618750
43Birth length less than 3rd percentile (HP:0003561)2.41023750
44Abnormality of the septum pellucidum (HP:0007375)2.40202745
45Aplasia of the musculature (HP:0100854)2.37558835
46Rickets (HP:0002748)2.24604760
47Abnormality of the labia minora (HP:0012880)2.21343117
48Abnormal spermatogenesis (HP:0008669)2.20672258
49Cleft eyelid (HP:0000625)2.17426894
50Facial cleft (HP:0002006)2.16942911
51Loss of speech (HP:0002371)2.16275288
52Microglossia (HP:0000171)2.15719039
53Multiple enchondromatosis (HP:0005701)2.15176166
54Truncal obesity (HP:0001956)2.13676981
55Skin pits (HP:0100276)2.12148496
56Urethral obstruction (HP:0000796)2.08994725
57Adrenal overactivity (HP:0002717)2.07883900
58Absent thumb (HP:0009777)2.07781712
59Abnormality of the salivary glands (HP:0010286)2.07361581
60Abnormality of the preputium (HP:0100587)2.06923244
61Meckel diverticulum (HP:0002245)2.06102491
62Absent radius (HP:0003974)2.05820084
63Abnormality of the ileum (HP:0001549)2.01568703
64Aplasia/Hypoplasia of the uvula (HP:0010293)1.99289095
65Aplasia/Hypoplasia affecting the fundus (HP:0008057)1.98956861
66Oligodactyly (HP:0012165)1.98706227
67Metaphyseal irregularity (HP:0003025)1.98705015
68Abnormality of DNA repair (HP:0003254)1.98627983
69Lower limb hyperreflexia (HP:0002395)1.98446812
70Ectopic kidney (HP:0000086)1.96337289
71Absent forearm bone (HP:0003953)1.92787361
72Aplasia involving forearm bones (HP:0009822)1.92787361
73Capillary hemangiomas (HP:0005306)1.92631211
74Posterior subcapsular cataract (HP:0007787)1.90946748
75Aplasia/Hypoplasia involving the musculature (HP:0001460)1.90601746
76Increased circulating renin level (HP:0000848)1.89707301
77Reticulocytopenia (HP:0001896)1.89442865
78Horseshoe kidney (HP:0000085)1.88849857
79Aplasia/Hypoplasia of the tongue (HP:0010295)1.88045633
80Sensory axonal neuropathy (HP:0003390)1.86832651
81Congenital nonbullous ichthyosiform erythroderma (HP:0007479)1.86672463
82Rhinitis (HP:0012384)1.85052309
83Spinal cord compression (HP:0002176)1.83051029
84Small intestinal stenosis (HP:0012848)1.82156081
85Duodenal stenosis (HP:0100867)1.82156081
86Secondary amenorrhea (HP:0000869)1.82099325
87Hypoplasia of the uterus (HP:0000013)1.82077315
88Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.81237138
89Abnormality of the renal collecting system (HP:0004742)1.78710455
90Abnormal lung lobation (HP:0002101)1.77804478
91Hypoplastic pelvis (HP:0008839)1.77379383
92Rhabdomyosarcoma (HP:0002859)1.76937399
93Conjunctival telangiectasia (HP:0000524)1.76307313
94Abnormal ciliary motility (HP:0012262)1.75573282
95Preauricular pit (HP:0004467)1.73561723
96Periauricular skin pits (HP:0100277)1.73561723
97Stillbirth (HP:0003826)1.72502098
98Severe visual impairment (HP:0001141)1.72361245
99Neoplasm of the oral cavity (HP:0100649)1.70950537
100Abnormality of chromosome stability (HP:0003220)1.69135650

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K95.75478700
2ARAF4.35822389
3MAP3K133.86686985
4TTK3.10160733
5NEK62.89553360
6LMTK22.82845820
7CDK192.64704234
8TESK22.51074922
9CDK122.44259685
10BUB12.43057829
11STK242.39861079
12AURKA2.34987760
13CDC72.34339212
14TAOK32.32789562
15BRAF2.20970420
16PBK2.10772124
17BRSK11.94747152
18PLK11.93692806
19TRIM281.76774158
20MET1.73866783
21MOS1.71412619
22CDK71.69744172
23KSR21.59457367
24PRKCI1.57250056
25SRPK11.53852757
26RAF11.41549229
27CDK91.40198356
28BRSK21.37370328
29CDK81.33442892
30MELK1.26751112
31CHEK11.25604091
32NEK21.18935118
33ZAK1.18118587
34LATS21.17562465
35STK31.14938908
36PIM11.14719057
37PLK41.13516713
38CHEK21.11096266
39AURKB1.09295115
40NTRK21.04831069
41ACVR1B1.01448217
42STK161.00598514
43NME10.99649751
44MAP3K80.96609939
45CDK20.85688986
46PLK30.85682083
47PAK10.84253191
48PTK20.81068802
49EIF2AK30.80751124
50WNK10.76863473
51MTOR0.73809768
52NTRK30.73661831
53STK40.73182439
54PHKG20.70275583
55PHKG10.70275583
56PKN10.68984763
57CLK10.68818138
58ATM0.68267621
59ATR0.66945062
60CDK10.66456692
61EEF2K0.64791238
62TAOK20.63463519
63KSR10.62690475
64CSNK1E0.61226415
65LRRK20.59633567
66MARK30.58949607
67PRPF4B0.54552568
68TNK20.53784116
69STK390.52708370
70SMG10.51191365
71CSNK1G10.51177622
72DMPK0.50831518
73CSNK1D0.47690236
74AKT20.47670012
75TNIK0.41770308
76GSK3B0.41477483
77PRKCZ0.40937825
78MAPK110.39997475
79PRKG10.39316708
80MAP3K50.38751346
81EPHA40.38502664
82TGFBR10.33559515
83CSNK2A20.33178605
84TLK10.32675965
85TYRO30.31253867
86RPS6KB10.30958128
87MAPK10.30125939
88CDK11A0.29028382
89PRKACB0.28999436
90MAPK140.27365576
91CSNK2A10.25741195
92CDK50.23369957
93KDR0.22951178
94RPS6KA10.22841343
95CSNK1G30.22303045
96VRK10.21938630
97PDK10.21046551
98WNK40.21006722
99PRKACA0.19422104
100CSF1R0.19284329

Predicted pathways (KEGG)

RankGene SetZ-score
1Basal transcription factors_Homo sapiens_hsa030225.11901516
2Mismatch repair_Homo sapiens_hsa034304.56938530
3Folate biosynthesis_Homo sapiens_hsa007904.46598535
4Cell cycle_Homo sapiens_hsa041103.81358526
5Base excision repair_Homo sapiens_hsa034103.60752323
6DNA replication_Homo sapiens_hsa030303.42371933
7Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005333.07825106
8Oocyte meiosis_Homo sapiens_hsa041142.84244266
9Ovarian steroidogenesis_Homo sapiens_hsa049132.61152059
10Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.56859371
11Fanconi anemia pathway_Homo sapiens_hsa034602.47156391
12Progesterone-mediated oocyte maturation_Homo sapiens_hsa049142.36249774
13RNA transport_Homo sapiens_hsa030132.35082157
14Nucleotide excision repair_Homo sapiens_hsa034202.25596574
15RNA polymerase_Homo sapiens_hsa030202.19559370
16RNA degradation_Homo sapiens_hsa030182.16517079
17mRNA surveillance pathway_Homo sapiens_hsa030152.15718907
18Homologous recombination_Homo sapiens_hsa034401.99894233
19Ribosome_Homo sapiens_hsa030101.90737033
20p53 signaling pathway_Homo sapiens_hsa041151.89541949
21Cysteine and methionine metabolism_Homo sapiens_hsa002701.62653097
22Regulation of autophagy_Homo sapiens_hsa041401.61653534
23Dorso-ventral axis formation_Homo sapiens_hsa043201.59224498
24Caffeine metabolism_Homo sapiens_hsa002321.38701363
25Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.38391803
26Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.29365981
27Olfactory transduction_Homo sapiens_hsa047401.22185704
28Spliceosome_Homo sapiens_hsa030401.20585986
29Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.18546477
30Taste transduction_Homo sapiens_hsa047421.11737791
31Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.06915951
32Pyrimidine metabolism_Homo sapiens_hsa002400.94833733
33Phototransduction_Homo sapiens_hsa047440.91965432
34Fatty acid elongation_Homo sapiens_hsa000620.91512524
35Nicotine addiction_Homo sapiens_hsa050330.84825666
36Gap junction_Homo sapiens_hsa045400.83063536
37Circadian rhythm_Homo sapiens_hsa047100.82372059
38Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.77902992
39Huntingtons disease_Homo sapiens_hsa050160.72937688
40TGF-beta signaling pathway_Homo sapiens_hsa043500.72704810
41Inositol phosphate metabolism_Homo sapiens_hsa005620.72613880
42Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.69519070
43Purine metabolism_Homo sapiens_hsa002300.68779525
44mTOR signaling pathway_Homo sapiens_hsa041500.64252361
45MicroRNAs in cancer_Homo sapiens_hsa052060.59402992
46ABC transporters_Homo sapiens_hsa020100.59381694
47Non-homologous end-joining_Homo sapiens_hsa034500.56317594
48Longevity regulating pathway - mammal_Homo sapiens_hsa042110.50353438
49Viral carcinogenesis_Homo sapiens_hsa052030.50201848
50Arginine and proline metabolism_Homo sapiens_hsa003300.49885282
51Morphine addiction_Homo sapiens_hsa050320.48594300
52Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.48519370
53Phosphatidylinositol signaling system_Homo sapiens_hsa040700.47836336
54GABAergic synapse_Homo sapiens_hsa047270.43565656
55Bile secretion_Homo sapiens_hsa049760.42018883
56Wnt signaling pathway_Homo sapiens_hsa043100.41363231
57Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.39724106
58Cardiac muscle contraction_Homo sapiens_hsa042600.38647615
59Thyroid hormone signaling pathway_Homo sapiens_hsa049190.37689148
60Synaptic vesicle cycle_Homo sapiens_hsa047210.35485000
61Hippo signaling pathway_Homo sapiens_hsa043900.31732504
62SNARE interactions in vesicular transport_Homo sapiens_hsa041300.30917429
63Steroid biosynthesis_Homo sapiens_hsa001000.30692747
64Serotonergic synapse_Homo sapiens_hsa047260.29409508
65Arginine biosynthesis_Homo sapiens_hsa002200.27666666
66Insulin secretion_Homo sapiens_hsa049110.25881872
67Glycosaminoglycan degradation_Homo sapiens_hsa005310.25645213
68Maturity onset diabetes of the young_Homo sapiens_hsa049500.24966414
69FoxO signaling pathway_Homo sapiens_hsa040680.23079440
70Aldosterone synthesis and secretion_Homo sapiens_hsa049250.22020908
71Drug metabolism - other enzymes_Homo sapiens_hsa009830.21253808
72Thyroid cancer_Homo sapiens_hsa052160.21177735
73HTLV-I infection_Homo sapiens_hsa051660.18908953
74Small cell lung cancer_Homo sapiens_hsa052220.18663929
75Selenocompound metabolism_Homo sapiens_hsa004500.18401304
76Cyanoamino acid metabolism_Homo sapiens_hsa004600.17570317
77Herpes simplex infection_Homo sapiens_hsa051680.17239841
78Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.16322707
79ErbB signaling pathway_Homo sapiens_hsa040120.15691567
80Long-term depression_Homo sapiens_hsa047300.15286863
81Ras signaling pathway_Homo sapiens_hsa040140.14849490
82MAPK signaling pathway_Homo sapiens_hsa040100.14211084
83AMPK signaling pathway_Homo sapiens_hsa041520.13177999
84Protein digestion and absorption_Homo sapiens_hsa049740.12082752
85Hedgehog signaling pathway_Homo sapiens_hsa043400.11469877
86Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.11442365
87Metabolic pathways_Homo sapiens_hsa011000.11322981
88Insulin signaling pathway_Homo sapiens_hsa049100.10394941
89Epstein-Barr virus infection_Homo sapiens_hsa051690.08234697
90Melanoma_Homo sapiens_hsa052180.07462101
91PI3K-Akt signaling pathway_Homo sapiens_hsa041510.07095380
92Parkinsons disease_Homo sapiens_hsa050120.05117685
93Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.04506208
94Tight junction_Homo sapiens_hsa045300.04342253
95Pathways in cancer_Homo sapiens_hsa052000.04324444
96Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.03841192
97Rap1 signaling pathway_Homo sapiens_hsa040150.03538657
98Adherens junction_Homo sapiens_hsa045200.02673884
99Glycerophospholipid metabolism_Homo sapiens_hsa005640.01756399
100HIF-1 signaling pathway_Homo sapiens_hsa040660.01676094

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