PTCHD3P2

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
1neuron remodeling (GO:0016322)7.67644465
2neuron maturation (GO:0042551)6.96965649
3regulation of protein heterodimerization activity (GO:0043497)6.90696616
4positive regulation of protein homodimerization activity (GO:0090073)6.88144633
5pattern specification involved in kidney development (GO:0061004)6.85309141
6neuronal action potential propagation (GO:0019227)6.50658699
7Sertoli cell development (GO:0060009)6.16770026
8cerebellar granule cell differentiation (GO:0021707)5.72677763
9face development (GO:0060324)5.56638854
10hypothalamus development (GO:0021854)5.39878468
11behavioral response to nicotine (GO:0035095)5.39258656
12negative regulation of cell cycle arrest (GO:0071157)5.21993826
13cardiovascular system development (GO:0072358)4.88709494
14segment specification (GO:0007379)4.70168443
15seminiferous tubule development (GO:0072520)4.69722738
16establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)4.49207308
17negative regulation of T cell differentiation in thymus (GO:0033085)4.47234149
18establishment of mitochondrion localization (GO:0051654)4.25123733
19positive regulation of synapse assembly (GO:0051965)4.15853318
20pyrimidine nucleobase catabolic process (GO:0006208)4.15599474
21sex determination (GO:0007530)4.12817621
22lens morphogenesis in camera-type eye (GO:0002089)4.12165344
23regulation of glycogen (starch) synthase activity (GO:2000465)4.05876691
24response to pheromone (GO:0019236)4.03568375
25urogenital system development (GO:0001655)4.01998294
26cerebral cortex radially oriented cell migration (GO:0021799)4.00978181
27cell migration in hindbrain (GO:0021535)3.96454486
28dendritic spine morphogenesis (GO:0060997)3.84193350
29regulation of synapse structural plasticity (GO:0051823)3.82472911
30phenol-containing compound catabolic process (GO:0019336)3.67616342
31spinal cord development (GO:0021510)3.55214321
32dopamine biosynthetic process (GO:0042416)3.52602977
33DNA double-strand break processing (GO:0000729)3.46723361
34regulation of glutamate secretion (GO:0014048)3.44168136
35water-soluble vitamin biosynthetic process (GO:0042364)3.43920823
36positive regulation of T cell apoptotic process (GO:0070234)3.42785640
37oocyte development (GO:0048599)3.42392370
38negative regulation of glycogen biosynthetic process (GO:0045719)3.34660066
39negative regulation of cytosolic calcium ion concentration (GO:0051481)3.25987559
40nucleobase catabolic process (GO:0046113)3.24090313
41negative regulation of synaptic transmission, GABAergic (GO:0032229)3.24035867
42glycerophospholipid catabolic process (GO:0046475)3.22351147
43neurotransmitter-gated ion channel clustering (GO:0072578)3.22054888
44regulation of female receptivity (GO:0045924)3.21752308
45substrate-dependent cell migration (GO:0006929)3.21456297
46chaperone-mediated protein complex assembly (GO:0051131)3.21251485
47synaptic vesicle endocytosis (GO:0048488)3.18433569
48nucleotide-excision repair, DNA gap filling (GO:0006297)3.16460769
49N-glycan processing (GO:0006491)3.10161671
50response to auditory stimulus (GO:0010996)3.09545430
51positive regulation of amino acid transport (GO:0051957)3.06701644
52rRNA catabolic process (GO:0016075)3.02567544
53female mating behavior (GO:0060180)3.01501247
54regulation of transmission of nerve impulse (GO:0051969)2.96197607
55endosome to pigment granule transport (GO:0043485)2.94221780
56endosome to melanosome transport (GO:0035646)2.94221780
57positive regulation of vascular permeability (GO:0043117)2.92213783
58grooming behavior (GO:0007625)2.92137837
59cell differentiation in hindbrain (GO:0021533)2.91365368
60establishment or maintenance of apical/basal cell polarity (GO:0035088)2.90314094
61establishment or maintenance of bipolar cell polarity (GO:0061245)2.90314094
62positive regulation of mitotic metaphase/anaphase transition (GO:0045842)2.89449806
63positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)2.89449806
64positive regulation of mitotic sister chromatid separation (GO:1901970)2.89449806
65pyrimidine dimer repair (GO:0006290)2.88504254
66centriole replication (GO:0007099)2.86578889
67auditory behavior (GO:0031223)2.86087152
68biotin metabolic process (GO:0006768)2.85566736
69DNA integration (GO:0015074)2.84294627
70regulation of nuclear cell cycle DNA replication (GO:0033262)2.82749418
71negative regulation of cAMP-mediated signaling (GO:0043951)2.82153026
72alkaloid metabolic process (GO:0009820)2.80214141
73heterochromatin organization (GO:0070828)2.79408329
74ephrin receptor signaling pathway (GO:0048013)2.79038487
75kynurenine metabolic process (GO:0070189)2.79021861
76negative regulation of organelle assembly (GO:1902116)2.77909193
77neurotransmitter catabolic process (GO:0042135)2.77577873
78negative regulation of cell aging (GO:0090344)2.74662217
79establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.74591934
80mitochondrion transport along microtubule (GO:0047497)2.74591934
81thalamus development (GO:0021794)2.70291908
82retinal ganglion cell axon guidance (GO:0031290)2.68780289
83auditory receptor cell differentiation (GO:0042491)2.67528349
84regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act2.67280241
85pituitary gland development (GO:0021983)2.67223076
86histone H3-K9 methylation (GO:0051567)2.67064048
87negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)2.65131610
88G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.64569825
89establishment of tissue polarity (GO:0007164)2.64509691
90establishment of planar polarity (GO:0001736)2.64509691
91neuron fate specification (GO:0048665)2.64393288
92positive regulation of lymphocyte apoptotic process (GO:0070230)2.64215295
93regulation of synapse assembly (GO:0051963)2.60599449
94behavioral response to ethanol (GO:0048149)2.60379319
95postreplication repair (GO:0006301)2.59764203
96positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.59631445
97forebrain development (GO:0030900)2.57237384
98maturation of SSU-rRNA (GO:0030490)2.57233006
99detection of light stimulus involved in visual perception (GO:0050908)2.56234374
100detection of light stimulus involved in sensory perception (GO:0050962)2.56234374

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human8.34453771
2E2F7_22180533_ChIP-Seq_HELA_Human5.40232483
3ZNF274_21170338_ChIP-Seq_K562_Hela3.23300853
4CBX2_27304074_Chip-Seq_ESCs_Mouse2.88659632
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.76282570
6EZH2_27304074_Chip-Seq_ESCs_Mouse2.73525900
7NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.69857325
8NOTCH1_21737748_ChIP-Seq_TLL_Human2.63587765
9ERG_21242973_ChIP-ChIP_JURKAT_Human2.63362108
10IRF1_19129219_ChIP-ChIP_H3396_Human2.59835664
11EED_16625203_ChIP-ChIP_MESCs_Mouse2.57037121
12SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.52899642
13RNF2_18974828_ChIP-Seq_MESCs_Mouse2.44842083
14EZH2_18974828_ChIP-Seq_MESCs_Mouse2.44842083
15PHC1_16625203_ChIP-ChIP_MESCs_Mouse2.40456963
16SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.33328735
17CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.29632133
18EZH2_27294783_Chip-Seq_ESCs_Mouse2.24370965
19JARID2_20075857_ChIP-Seq_MESCs_Mouse2.24262486
20RNF2_27304074_Chip-Seq_ESCs_Mouse2.23831798
21SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.23676794
22REST_21632747_ChIP-Seq_MESCs_Mouse2.21169874
23VDR_22108803_ChIP-Seq_LS180_Human2.18821309
24REST_18959480_ChIP-ChIP_MESCs_Mouse2.13142529
25CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.02277715
26SUZ12_27294783_Chip-Seq_ESCs_Mouse2.00956749
27SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.99806840
28DROSHA_22980978_ChIP-Seq_HELA_Human1.98663049
29GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.98439103
30FUS_26573619_Chip-Seq_HEK293_Human1.94972527
31SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.88847952
32RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.82942692
33MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.76599732
34BMI1_23680149_ChIP-Seq_NPCS_Mouse1.75927584
35RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.72667643
36RNF2_27304074_Chip-Seq_NSC_Mouse1.72364327
37GATA1_26923725_Chip-Seq_HPCs_Mouse1.67867707
38TAF15_26573619_Chip-Seq_HEK293_Human1.65944779
39TP53_20018659_ChIP-ChIP_R1E_Mouse1.56124092
40SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.55172009
41EWS_26573619_Chip-Seq_HEK293_Human1.52775949
42HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.50688000
43ZFP57_27257070_Chip-Seq_ESCs_Mouse1.50083221
44MYC_18940864_ChIP-ChIP_HL60_Human1.48767034
45MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.36251745
46MTF2_20144788_ChIP-Seq_MESCs_Mouse1.32743531
47CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.32697948
48BCAT_22108803_ChIP-Seq_LS180_Human1.31681226
49TOP2B_26459242_ChIP-Seq_MCF-7_Human1.31488236
50RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.31295425
51CTBP2_25329375_ChIP-Seq_LNCAP_Human1.31103096
52ESR1_15608294_ChIP-ChIP_MCF-7_Human1.30947911
53PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.22235445
54CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.20371255
55SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.17231685
56POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.15374116
57TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.15374116
58FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.14988950
59CTBP1_25329375_ChIP-Seq_LNCAP_Human1.14274968
60RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.12885670
61E2F1_21310950_ChIP-Seq_MCF-7_Human1.11398298
62WDR5_24793694_ChIP-Seq_LNCAP_Human1.09237014
63GBX2_23144817_ChIP-Seq_PC3_Human1.08411153
64GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.07828204
65MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.05437271
66DNAJC2_21179169_ChIP-ChIP_NT2_Human1.04722660
67SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.01961764
68TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.00517287
69TP63_19390658_ChIP-ChIP_HaCaT_Human1.00398649
70EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.99618121
71GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.99537363
72JUN_21703547_ChIP-Seq_K562_Human0.99483029
73ETV2_25802403_ChIP-Seq_MESCs_Mouse0.96112379
74RUNX1_26923725_Chip-Seq_HPCs_Mouse0.96065609
75MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.96026545
76RING1B_27294783_Chip-Seq_ESCs_Mouse0.95731595
77CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.94818833
78OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.93695132
79P300_19829295_ChIP-Seq_ESCs_Human0.93454664
80AR_21572438_ChIP-Seq_LNCaP_Human0.90752101
81EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.90349374
82RING1B_27294783_Chip-Seq_NPCs_Mouse0.89325996
83SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.89081799
84SMAD3_21741376_ChIP-Seq_ESCs_Human0.88343991
85TAF2_19829295_ChIP-Seq_ESCs_Human0.87836027
86SOX9_26525672_Chip-Seq_HEART_Mouse0.87136244
87TCF4_23295773_ChIP-Seq_U87_Human0.87089937
88SMAD4_21799915_ChIP-Seq_A2780_Human0.87074648
89MNX1_26342078_ChIP-Seq_MIN6-4N_Mouse0.85951787
90HCFC1_20581084_ChIP-Seq_MESCs_Mouse0.83801555
91POU5F1_16153702_ChIP-ChIP_HESCs_Human0.83235840
92NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.81921024
93RUNX2_22187159_ChIP-Seq_PCA_Human0.77516917
94AR_25329375_ChIP-Seq_VCAP_Human0.76533451
95FOXA1_27270436_Chip-Seq_PROSTATE_Human0.76048271
96FOXA1_25329375_ChIP-Seq_VCAP_Human0.76048271
97AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.75765954
98STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.75084046
99SETDB1_19884257_ChIP-Seq_MESCs_Mouse0.74977727
100KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.72915721

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003880_abnormal_central_pattern3.57767645
2MP0000778_abnormal_nervous_system3.55519548
3MP0005423_abnormal_somatic_nervous3.23384557
4MP0003787_abnormal_imprinting3.03531017
5MP0002822_catalepsy2.95398483
6MP0004885_abnormal_endolymph2.54471415
7MP0006276_abnormal_autonomic_nervous2.53587497
8MP0009046_muscle_twitch2.26425630
9MP0002557_abnormal_social/conspecific_i2.15624360
10MP0002063_abnormal_learning/memory/cond2.13594900
11MP0000631_abnormal_neuroendocrine_gland2.09401993
12MP0002102_abnormal_ear_morphology1.98891642
13MP0005410_abnormal_fertilization1.98122919
14MP0002572_abnormal_emotion/affect_behav1.95590228
15MP0003632_abnormal_nervous_system1.93772183
16MP0008057_abnormal_DNA_replication1.91420184
17MP0005647_abnormal_sex_gland1.90056447
18MP0003635_abnormal_synaptic_transmissio1.89501141
19MP0002272_abnormal_nervous_system1.82107450
20MP0003121_genomic_imprinting1.77577075
21MP0003693_abnormal_embryo_hatching1.73977675
22MP0003136_yellow_coat_color1.73930468
23MP0008007_abnormal_cellular_replicative1.71955503
24MP0004742_abnormal_vestibular_system1.70572897
25MP0001905_abnormal_dopamine_level1.68472909
26MP0005551_abnormal_eye_electrophysiolog1.64760742
27MP0003122_maternal_imprinting1.63641084
28MP0002184_abnormal_innervation1.63634476
29MP0002733_abnormal_thermal_nociception1.60750250
30MP0002638_abnormal_pupillary_reflex1.58237562
31MP0003879_abnormal_hair_cell1.50186585
32MP0001919_abnormal_reproductive_system1.46488102
33MP0002882_abnormal_neuron_morphology1.45121756
34MP0002163_abnormal_gland_morphology1.43362918
35MP0002067_abnormal_sensory_capabilities1.41687637
36MP0002160_abnormal_reproductive_system1.39545108
37MP0005389_reproductive_system_phenotype1.39370787
38MP0008875_abnormal_xenobiotic_pharmacok1.39192892
39MP0000428_abnormal_craniofacial_morphol1.35748350
40MP0002152_abnormal_brain_morphology1.34476331
41MP0001968_abnormal_touch/_nociception1.34226335
42MP0002139_abnormal_hepatobiliary_system1.32628698
43MP0002735_abnormal_chemical_nociception1.30711860
44MP0002837_dystrophic_cardiac_calcinosis1.30065698
45MP0009745_abnormal_behavioral_response1.29234195
46MP0001970_abnormal_pain_threshold1.29163092
47MP0000026_abnormal_inner_ear1.29154517
48MP0005195_abnormal_posterior_eye1.28737308
49MP0000955_abnormal_spinal_cord1.26196318
50MP0008877_abnormal_DNA_methylation1.25969335
51MP0002752_abnormal_somatic_nervous1.25022168
52MP0003315_abnormal_perineum_morphology1.23341032
53MP0002938_white_spotting1.21483509
54MP0002210_abnormal_sex_determination1.21186813
55MP0002064_seizures1.20222308
56MP0003861_abnormal_nervous_system1.18987536
57MP0004133_heterotaxia1.18226577
58MP0006292_abnormal_olfactory_placode1.18181847
59MP0001986_abnormal_taste_sensitivity1.17521315
60MP0001485_abnormal_pinna_reflex1.17459323
61MP0002932_abnormal_joint_morphology1.15642604
62MP0002697_abnormal_eye_size1.14656422
63MP0001286_abnormal_eye_development1.13682795
64MP0004142_abnormal_muscle_tone1.09239827
65MP0003698_abnormal_male_reproductive1.05452736
66MP0001486_abnormal_startle_reflex1.03193218
67MP0002066_abnormal_motor_capabilities/c1.00178585
68MP0001929_abnormal_gametogenesis0.98982712
69MP0003646_muscle_fatigue0.98494599
70MP0001177_atelectasis0.97672620
71MP0002229_neurodegeneration0.95872068
72MP0001881_abnormal_mammary_gland0.93889230
73MP0001145_abnormal_male_reproductive0.93852185
74MP0001879_abnormal_lymphatic_vessel0.93792657
75MP0001963_abnormal_hearing_physiology0.93468792
76MP0001293_anophthalmia0.92843542
77MP0000230_abnormal_systemic_arterial0.92679621
78MP0003938_abnormal_ear_development0.91820860
79MP0003567_abnormal_fetal_cardiomyocyte0.90428162
80MP0005595_abnormal_vascular_smooth0.90065019
81MP0000653_abnormal_sex_gland0.89487408
82MP0000049_abnormal_middle_ear0.89350618
83MP0002234_abnormal_pharynx_morphology0.87930373
84MP0006072_abnormal_retinal_apoptosis0.87352401
85MP0003631_nervous_system_phenotype0.86158847
86MP0008058_abnormal_DNA_repair0.86150036
87MP0001119_abnormal_female_reproductive0.84867116
88MP0009379_abnormal_foot_pigmentation0.79899436
89MP0000427_abnormal_hair_cycle0.79666648
90MP0005187_abnormal_penis_morphology0.79090707
91MP0004147_increased_porphyrin_level0.79051555
92MP0002653_abnormal_ependyma_morphology0.78202415
93MP0004043_abnormal_pH_regulation0.77187254
94MP0005386_behavior/neurological_phenoty0.76543738
95MP0004924_abnormal_behavior0.76543738
96MP0002069_abnormal_eating/drinking_beha0.76480570
97MP0004811_abnormal_neuron_physiology0.76010220
98MP0005171_absent_coat_pigmentation0.75548948
99MP0001346_abnormal_lacrimal_gland0.74908931
100MP0004085_abnormal_heartbeat0.74529455

Predicted human phenotypes

RankGene SetZ-score
1Septo-optic dysplasia (HP:0100842)8.14350965
2Maternal diabetes (HP:0009800)4.67224427
3Hyperventilation (HP:0002883)4.62230037
4Abnormality of the 2nd finger (HP:0004100)4.60613282
5Down-sloping shoulders (HP:0200021)4.57862347
6Sparse lateral eyebrow (HP:0005338)4.41109379
7Absent septum pellucidum (HP:0001331)4.30215895
8Hip dysplasia (HP:0001385)3.88627866
9Parkinsonism with favorable response to dopaminergic medication (HP:0002548)3.68165896
10Abnormality of the septum pellucidum (HP:0007375)3.57426021
11Optic nerve hypoplasia (HP:0000609)3.55833796
12Abdominal situs inversus (HP:0003363)3.54215250
13Abnormality of abdominal situs (HP:0011620)3.54215250
14Hypochromic anemia (HP:0001931)3.35603957
15Sclerocornea (HP:0000647)3.29089372
16Reticulocytopenia (HP:0001896)3.20255780
17Nephrogenic diabetes insipidus (HP:0009806)3.16120558
18Aplasia/Hypoplasia of the optic nerve (HP:0008058)3.13637635
19Growth hormone deficiency (HP:0000824)3.02582868
20Adactyly (HP:0009776)3.00022185
21Medial flaring of the eyebrow (HP:0010747)2.99437944
22Gait imbalance (HP:0002141)2.99411745
23Chromsome breakage (HP:0040012)2.90737722
24Nephronophthisis (HP:0000090)2.87582774
25Congenital primary aphakia (HP:0007707)2.87043353
26Severe Myopia (HP:0011003)2.85619013
27Duplicated collecting system (HP:0000081)2.74934974
28Abnormal hair whorl (HP:0010721)2.72022180
29Tachypnea (HP:0002789)2.69518808
30Increased corneal curvature (HP:0100692)2.66017500
31Keratoconus (HP:0000563)2.66017500
32Visual hallucinations (HP:0002367)2.64679889
33Abnormality of the renal collecting system (HP:0004742)2.64207986
34Chromosomal breakage induced by crosslinking agents (HP:0003221)2.55731809
35Broad face (HP:0000283)2.55267615
36Hypoparathyroidism (HP:0000829)2.54526361
37Megalocornea (HP:0000485)2.50762035
38Poor coordination (HP:0002370)2.48051606
39Limb dystonia (HP:0002451)2.45583712
40Acute lymphatic leukemia (HP:0006721)2.45371659
41Congenital stationary night blindness (HP:0007642)2.39706676
42Flat cornea (HP:0007720)2.38180474
43Aplasia/Hypoplasia of the patella (HP:0006498)2.33780808
44Abnormality of DNA repair (HP:0003254)2.31646305
45Patellar aplasia (HP:0006443)2.30107888
46Long toe (HP:0010511)2.26295158
47Pachygyria (HP:0001302)2.26024536
48Absent rod-and cone-mediated responses on ERG (HP:0007688)2.19947480
49Genital tract atresia (HP:0001827)2.18394569
50Testicular atrophy (HP:0000029)2.17364780
51Flat capital femoral epiphysis (HP:0003370)2.16241409
52Polycystic ovaries (HP:0000147)2.13779352
53Abnormality of the carotid arteries (HP:0005344)2.13740045
54Vaginal atresia (HP:0000148)2.10594580
55Birth length less than 3rd percentile (HP:0003561)2.09270749
56Aplasia/Hypoplasia affecting the fundus (HP:0008057)2.03682908
57Parakeratosis (HP:0001036)2.00810897
58Pancreatic fibrosis (HP:0100732)1.99851772
59Impulsivity (HP:0100710)1.99169963
60Left ventricular hypertrophy (HP:0001712)1.96157620
61Tapered finger (HP:0001182)1.96080504
62Ectopic kidney (HP:0000086)1.95239532
63Abnormality of the diencephalon (HP:0010662)1.94496966
64Tented upper lip vermilion (HP:0010804)1.90135743
65Abnormality of the renal medulla (HP:0100957)1.89934122
66Aplasia/Hypoplasia of the uvula (HP:0010293)1.89905463
67High anterior hairline (HP:0009890)1.89530895
68Abnormality of the labia minora (HP:0012880)1.87405880
69Lissencephaly (HP:0001339)1.85448432
70Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)1.84154884
71Hypoplastic pelvis (HP:0008839)1.83081876
72Abnormality of the 4th metacarpal (HP:0010012)1.81770102
73Papilledema (HP:0001085)1.78278210
74Hyperglycinuria (HP:0003108)1.77999483
75Short 4th metacarpal (HP:0010044)1.76603777
76Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)1.76603777
77Absent thumb (HP:0009777)1.75416311
78Short chin (HP:0000331)1.75413760
79Abnormality of cochlea (HP:0000375)1.74917836
80Trigonocephaly (HP:0000243)1.73535404
81Polyphagia (HP:0002591)1.73121773
82Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.72906123
83Bilateral microphthalmos (HP:0007633)1.71485511
84Abnormal rod and cone electroretinograms (HP:0008323)1.70342610
85Skull defect (HP:0001362)1.69761697
86Pendular nystagmus (HP:0012043)1.68314618
87Peripheral hypomyelination (HP:0007182)1.68079186
88Abnormality of midbrain morphology (HP:0002418)1.67957176
89Molar tooth sign on MRI (HP:0002419)1.67957176
90Abnormality of chromosome stability (HP:0003220)1.67600020
91Protruding tongue (HP:0010808)1.67259598
92Shawl scrotum (HP:0000049)1.63785988
93Meckel diverticulum (HP:0002245)1.62866255
94Bony spicule pigmentary retinopathy (HP:0007737)1.58813999
95Aplasia/hypoplasia of the femur (HP:0005613)1.58313645
96Abolished electroretinogram (ERG) (HP:0000550)1.58215601
97Genetic anticipation (HP:0003743)1.58016005
98Wide mouth (HP:0000154)1.57249472
99Tracheoesophageal fistula (HP:0002575)1.56914469
100Prenatal maternal abnormality (HP:0002686)1.56667590

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDC75.57880861
2MAP3K44.89649680
3TYRO34.74868841
4NTRK23.44406489
5FGFR23.24819804
6MAPK132.54942067
7CAMK1D2.53116923
8WNK32.46674409
9EPHB12.23867271
10CHEK21.87842606
11STK391.79162113
12CASK1.76457385
13MAP2K71.74859384
14GRK11.73037087
15PNCK1.68713477
16CAMK1G1.67990529
17WNK41.66017340
18FES1.62258884
19DYRK21.49339560
20MARK11.45303463
21NTRK31.42966955
22MAPKAPK51.40668734
23PLK31.34528136
24FGFR41.28523965
25MAPK151.24049859
26ZAK1.21828844
27MAPK111.20875388
28CDK51.17203435
29PRKCG1.15227853
30PIM11.13236311
31PINK11.09814030
32EPHB21.07230807
33ADRBK21.06226267
34INSRR1.01987510
35DMPK1.01741592
36STK161.01702241
37PASK1.00967636
38LIMK11.00564610
39PRKD30.99670951
40CAMKK10.96583683
41PRKCH0.94174597
42PIK3CA0.93459852
43TLK10.90894221
44FRK0.89339149
45ATR0.78839196
46TAOK10.76689678
47MAPK120.74865348
48PAK30.71931805
49CCNB10.69949912
50CAMK40.68870754
51NTRK10.64336864
52RPS6KA60.59913293
53PRKDC0.59559113
54CHEK10.59243104
55FGFR30.58600016
56CSNK1D0.56276990
57OXSR10.55826645
58ATM0.52949606
59RPS6KA10.50374013
60PAK60.49486515
61CAMK10.49480271
62WEE10.49173417
63PLK10.48767967
64CAMKK20.48122677
65CDK30.47646674
66GSK3B0.47373636
67CDK190.47160783
68RPS6KC10.47065183
69RPS6KL10.47065183
70AKT20.46972671
71PRKACA0.46080264
72PRKACB0.45400565
73NME10.44832901
74CDK140.44817093
75PTK60.44680967
76VRK10.44427661
77UHMK10.44227268
78PDGFRA0.43029861
79PRKACG0.41659087
80CDK80.40716710
81MKNK20.39699226
82CAMK2A0.39660307
83MAP2K40.39499081
84CDK150.38771582
85OBSCN0.38298835
86CDK20.37271227
87AKT10.37000494
88RET0.36473112
89PRKCZ0.35722565
90CDK11A0.35494966
91CDK180.35330921
92ADRBK10.34766993
93CDK10.34314559
94TAOK30.33988727
95RPS6KA30.33693477
96MAP3K90.32741568
97RPS6KA20.31928598
98PRKCB0.31417250
99AURKA0.28862046
100RPS6KA50.27552338

Predicted pathways (KEGG)

RankGene SetZ-score
1Vitamin B6 metabolism_Homo sapiens_hsa007504.90704437
2Phenylalanine metabolism_Homo sapiens_hsa003603.61780721
3Non-homologous end-joining_Homo sapiens_hsa034503.05916978
4Sulfur relay system_Homo sapiens_hsa041222.93709391
5Axon guidance_Homo sapiens_hsa043602.77414588
6Nicotine addiction_Homo sapiens_hsa050332.49541148
7Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.39974222
8Fanconi anemia pathway_Homo sapiens_hsa034602.28126485
9Phototransduction_Homo sapiens_hsa047442.07379638
10Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.02232330
11Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.00747071
12Tyrosine metabolism_Homo sapiens_hsa003501.94775514
13Base excision repair_Homo sapiens_hsa034101.88356169
14DNA replication_Homo sapiens_hsa030301.85217458
15Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.77207856
16Cyanoamino acid metabolism_Homo sapiens_hsa004601.71531979
17Morphine addiction_Homo sapiens_hsa050321.67661865
18Dopaminergic synapse_Homo sapiens_hsa047281.66169932
19beta-Alanine metabolism_Homo sapiens_hsa004101.66103496
20Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.64107502
21Ribosome_Homo sapiens_hsa030101.59146846
22Cocaine addiction_Homo sapiens_hsa050301.55644005
23alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.55164064
24Homologous recombination_Homo sapiens_hsa034401.49305224
25Cardiac muscle contraction_Homo sapiens_hsa042601.48465888
26Butanoate metabolism_Homo sapiens_hsa006501.43129756
27Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.40763167
28Tryptophan metabolism_Homo sapiens_hsa003801.36444966
29Linoleic acid metabolism_Homo sapiens_hsa005911.35973219
30Glutamatergic synapse_Homo sapiens_hsa047241.30769586
31GABAergic synapse_Homo sapiens_hsa047271.24882140
32Nucleotide excision repair_Homo sapiens_hsa034201.24663841
33Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.22510446
34Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.21682276
35Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.19109176
36Protein export_Homo sapiens_hsa030601.10226016
37Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.08139184
38Oxytocin signaling pathway_Homo sapiens_hsa049211.05869515
39Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.02077579
40Circadian entrainment_Homo sapiens_hsa047131.00483519
41Calcium signaling pathway_Homo sapiens_hsa040200.99764525
42Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.95573362
43Drug metabolism - other enzymes_Homo sapiens_hsa009830.93097173
44Cholinergic synapse_Homo sapiens_hsa047250.93031071
45Lysine degradation_Homo sapiens_hsa003100.90216006
46Serotonergic synapse_Homo sapiens_hsa047260.86116709
47Steroid biosynthesis_Homo sapiens_hsa001000.80993594
48Parkinsons disease_Homo sapiens_hsa050120.80721464
49Folate biosynthesis_Homo sapiens_hsa007900.79146617
50One carbon pool by folate_Homo sapiens_hsa006700.78322904
51Taste transduction_Homo sapiens_hsa047420.77014022
52Histidine metabolism_Homo sapiens_hsa003400.75832525
53Amphetamine addiction_Homo sapiens_hsa050310.74869912
54Basal cell carcinoma_Homo sapiens_hsa052170.71810834
55Fat digestion and absorption_Homo sapiens_hsa049750.69491640
56Type II diabetes mellitus_Homo sapiens_hsa049300.68894898
57Hippo signaling pathway_Homo sapiens_hsa043900.66597756
58Olfactory transduction_Homo sapiens_hsa047400.66383174
59Starch and sucrose metabolism_Homo sapiens_hsa005000.66211904
60Carbohydrate digestion and absorption_Homo sapiens_hsa049730.64658800
61Arginine and proline metabolism_Homo sapiens_hsa003300.63891789
62Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.63240797
63Propanoate metabolism_Homo sapiens_hsa006400.59195305
64Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.57869163
65Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.57157575
66Mismatch repair_Homo sapiens_hsa034300.57014440
67Dilated cardiomyopathy_Homo sapiens_hsa054140.56523141
68Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.55181282
69Huntingtons disease_Homo sapiens_hsa050160.54949857
70Steroid hormone biosynthesis_Homo sapiens_hsa001400.53847068
71AMPK signaling pathway_Homo sapiens_hsa041520.52745456
72Basal transcription factors_Homo sapiens_hsa030220.52660035
73Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.51802911
74Vascular smooth muscle contraction_Homo sapiens_hsa042700.51184804
75Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.49534485
76Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.49287057
77Selenocompound metabolism_Homo sapiens_hsa004500.49064930
78Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.47963548
79Cell cycle_Homo sapiens_hsa041100.46522772
80Wnt signaling pathway_Homo sapiens_hsa043100.46140876
81Thyroid hormone signaling pathway_Homo sapiens_hsa049190.44075275
82RNA degradation_Homo sapiens_hsa030180.43532956
83Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.43247775
84Glucagon signaling pathway_Homo sapiens_hsa049220.42388048
85Renin secretion_Homo sapiens_hsa049240.41984384
86Hedgehog signaling pathway_Homo sapiens_hsa043400.41848339
87Ovarian steroidogenesis_Homo sapiens_hsa049130.40125810
88Chemical carcinogenesis_Homo sapiens_hsa052040.39881973
89Dorso-ventral axis formation_Homo sapiens_hsa043200.39703021
90Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.39522147
91Oxidative phosphorylation_Homo sapiens_hsa001900.38565231
92Maturity onset diabetes of the young_Homo sapiens_hsa049500.37676524
93Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.36685815
94Pentose and glucuronate interconversions_Homo sapiens_hsa000400.35238302
95VEGF signaling pathway_Homo sapiens_hsa043700.34818513
96Glycosaminoglycan degradation_Homo sapiens_hsa005310.34039177
97Pyrimidine metabolism_Homo sapiens_hsa002400.34010463
98Alcoholism_Homo sapiens_hsa050340.33647298
99Ras signaling pathway_Homo sapiens_hsa040140.30942879
100MicroRNAs in cancer_Homo sapiens_hsa052060.30922958

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