PTCHD3

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
1cell-cell recognition (GO:0009988)9.84328762
2motile cilium assembly (GO:0044458)9.53499598
3* spermatid development (GO:0007286)9.34002218
4multicellular organism reproduction (GO:0032504)9.28380333
5epithelial cilium movement (GO:0003351)9.20517847
6synaptonemal complex organization (GO:0070193)8.99445096
7male meiosis (GO:0007140)8.77716969
8synaptonemal complex assembly (GO:0007130)8.71263916
9plasma membrane fusion (GO:0045026)8.68357899
10reproduction (GO:0000003)8.05845406
11regulation of cilium movement (GO:0003352)8.01448069
12negative regulation of inclusion body assembly (GO:0090084)7.86955927
13cilium movement (GO:0003341)7.68671019
14epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)7.63539225
15spermatogenesis (GO:0007283)6.77354736
16male gamete generation (GO:0048232)6.74890447
17DNA methylation involved in gamete generation (GO:0043046)6.53784644
18sperm capacitation (GO:0048240)6.52356347
19single fertilization (GO:0007338)6.51915608
20organic cation transport (GO:0015695)6.33348433
21regulation of inclusion body assembly (GO:0090083)6.28431906
22male meiosis I (GO:0007141)6.24876422
23gamete generation (GO:0007276)6.19636074
24negative regulation of hormone biosynthetic process (GO:0032353)6.16375419
25fertilization (GO:0009566)5.98830095
26chromosome organization involved in meiosis (GO:0070192)5.96061230
27microtubule depolymerization (GO:0007019)5.68906124
28chromosome condensation (GO:0030261)5.58354619
29protein import into peroxisome matrix (GO:0016558)5.51870111
30negative regulation of hormone metabolic process (GO:0032351)5.48731033
31xenobiotic catabolic process (GO:0042178)5.45697277
32DNA packaging (GO:0006323)5.43881643
33* germ cell development (GO:0007281)5.43125857
34phenylpropanoid metabolic process (GO:0009698)5.42225545
35meiotic nuclear division (GO:0007126)5.35683040
36* cellular process involved in reproduction in multicellular organism (GO:0022412)5.35117052
37inositol phosphate-mediated signaling (GO:0048016)5.27933247
38seminiferous tubule development (GO:0072520)5.21146694
39positive regulation of meiosis (GO:0045836)5.18702764
40calcium ion-dependent exocytosis (GO:0017156)5.15078781
41histone H3-K9 demethylation (GO:0033169)5.12674182
42artery smooth muscle contraction (GO:0014824)5.05151348
43meiosis I (GO:0007127)5.04927262
44ventricular system development (GO:0021591)4.92219617
45positive regulation of meiotic cell cycle (GO:0051446)4.89025041
46multicellular organismal reproductive process (GO:0048609)4.84164983
47regulation of microtubule-based movement (GO:0060632)4.77798131
48microtubule severing (GO:0051013)4.77210819
49cell recognition (GO:0008037)4.73672692
50type B pancreatic cell development (GO:0003323)4.73483484
51spermatid nucleus differentiation (GO:0007289)4.56925386
52meiotic cell cycle (GO:0051321)4.54813856
53tonic smooth muscle contraction (GO:0014820)4.47239239
54left/right pattern formation (GO:0060972)4.42081526
55urinary tract smooth muscle contraction (GO:0014848)4.32285992
56negative regulation of calcium ion-dependent exocytosis (GO:0045955)4.30190958
57endocrine pancreas development (GO:0031018)4.28118498
58cellular ketone body metabolic process (GO:0046950)4.24682898
59glycerol ether metabolic process (GO:0006662)4.20753890
60chaperone-mediated protein complex assembly (GO:0051131)4.18651795
61interferon-gamma production (GO:0032609)4.17940965
62genitalia morphogenesis (GO:0035112)4.07918875
63protein localization to cilium (GO:0061512)3.94750432
64multicellular organismal development (GO:0007275)3.94285581
65regulation of phospholipase A2 activity (GO:0032429)3.89978292
66exocrine pancreas development (GO:0031017)3.89970506
67regulation of energy homeostasis (GO:2000505)3.88791822
68ether metabolic process (GO:0018904)3.88074030
69protein targeting to peroxisome (GO:0006625)3.85229625
70establishment of protein localization to peroxisome (GO:0072663)3.85229625
71protein localization to peroxisome (GO:0072662)3.85229625
72intracellular pH reduction (GO:0051452)3.79269155
73ketone body metabolic process (GO:1902224)3.78327495
74snRNA transcription (GO:0009301)3.77226871
75sexual reproduction (GO:0019953)3.76973161
76single strand break repair (GO:0000012)3.76702230
77regulation of glucocorticoid metabolic process (GO:0031943)3.70868766
78protein polyglutamylation (GO:0018095)3.68007037
79regulation of short-term neuronal synaptic plasticity (GO:0048172)3.64630612
80gene silencing by RNA (GO:0031047)3.64032017
81oocyte development (GO:0048599)3.58178401
82meiotic cell cycle process (GO:1903046)3.55695911
83cellular response to nicotine (GO:0071316)3.55679001
84N-terminal protein amino acid acetylation (GO:0006474)3.54094037
85phasic smooth muscle contraction (GO:0014821)3.53749488
86regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.53414530
87peroxisomal transport (GO:0043574)3.52048322
88vascular smooth muscle contraction (GO:0014829)3.50999329
89potassium ion import (GO:0010107)3.50719559
90cell differentiation involved in metanephros development (GO:0072202)3.50676219
91regulation of spindle checkpoint (GO:0090231)3.47737499
92negative regulation of norepinephrine secretion (GO:0010700)3.46406719
93mesenchymal cell differentiation involved in renal system development (GO:2001012)3.41373821
94mesenchymal cell differentiation involved in kidney development (GO:0072161)3.41373821
95amino-acid betaine transport (GO:0015838)3.41372381
96carnitine transport (GO:0015879)3.41372381
97sequestering of actin monomers (GO:0042989)3.41252269
98negative regulation of response to food (GO:0032096)3.40800971
99negative regulation of appetite (GO:0032099)3.40800971
100regulation of neuron migration (GO:2001222)3.39278217
101protein refolding (GO:0042026)3.38224238
102N-glycan processing (GO:0006491)3.37371460
103carnitine transmembrane transport (GO:1902603)3.34123716
104dorsal/ventral neural tube patterning (GO:0021904)3.33605544
105synapsis (GO:0007129)3.33269984
106glandular epithelial cell development (GO:0002068)3.29701132
107protein K48-linked deubiquitination (GO:0071108)3.28671632
108coenzyme A metabolic process (GO:0015936)3.26794586
109mitotic sister chromatid cohesion (GO:0007064)3.26569478
110regulation of meiosis I (GO:0060631)3.25122946
111glandular epithelial cell differentiation (GO:0002067)3.23884800
112negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)3.19032165
113pH reduction (GO:0045851)3.17994597
114nucleus organization (GO:0006997)3.16599437
115macroautophagy (GO:0016236)3.15638242
116intraciliary transport (GO:0042073)3.15149430
117interferon-gamma secretion (GO:0072643)3.13779036
118regulation of male gonad development (GO:2000018)3.07889419
119activated T cell proliferation (GO:0050798)3.07406438
120axoneme assembly (GO:0035082)3.04960594
121regulation of hexokinase activity (GO:1903299)3.03424061
122regulation of glucokinase activity (GO:0033131)3.03424061
123epithelial cell maturation (GO:0002070)3.02332551
124peroxisome organization (GO:0007031)3.01976062
125gene silencing (GO:0016458)3.01199846
126regulation of uterine smooth muscle contraction (GO:0070472)3.00262994
127serotonin metabolic process (GO:0042428)2.99855050
128nucleosome disassembly (GO:0006337)2.98265750
129protein-DNA complex disassembly (GO:0032986)2.98265750
130monoubiquitinated protein deubiquitination (GO:0035520)2.97573629
131acetyl-CoA metabolic process (GO:0006084)2.96590867
132protein K11-linked deubiquitination (GO:0035871)2.95366009
133synaptic vesicle docking involved in exocytosis (GO:0016081)2.94720175
134bundle of His cell to Purkinje myocyte communication (GO:0086069)2.93527809
135coenzyme A biosynthetic process (GO:0015937)2.93000654
136intracellular protein transmembrane import (GO:0044743)2.92196083
137negative regulation of organelle assembly (GO:1902116)2.90909377
138positive regulation of microtubule polymerization (GO:0031116)2.88108313
139regulation of protein glycosylation (GO:0060049)2.86860408
140glycolytic process (GO:0006096)2.86810424
141microtubule-based movement (GO:0007018)2.86475051
142microtubule polymerization or depolymerization (GO:0031109)2.84948024
143RNA localization (GO:0006403)2.83806958
144regulation of steroid hormone biosynthetic process (GO:0090030)2.83412096
145ganglioside metabolic process (GO:0001573)2.78317068
146alditol metabolic process (GO:0019400)2.76493540
147cilium organization (GO:0044782)2.74901157
148positive regulation of macrophage activation (GO:0043032)2.74598680
149positive regulation of vasodilation (GO:0045909)2.74088853
150fear response (GO:0042596)2.72519322
151intracellular protein transmembrane transport (GO:0065002)2.71846988
152nucleoside diphosphate phosphorylation (GO:0006165)2.71444037
153carnitine shuttle (GO:0006853)2.71010582
154regulation of cilium assembly (GO:1902017)2.68528427
155polyol catabolic process (GO:0046174)2.68418177
156indole-containing compound metabolic process (GO:0042430)2.67186395
157fatty acid transmembrane transport (GO:1902001)2.66841826
158regulation of nuclear cell cycle DNA replication (GO:0033262)2.66093728
159mesenchymal to epithelial transition (GO:0060231)2.65198679
160sphingolipid catabolic process (GO:0030149)2.63506333
161cilium morphogenesis (GO:0060271)2.63338794
162opioid receptor signaling pathway (GO:0038003)2.63138857
163chromatin silencing (GO:0006342)2.63118631
164positive regulation of glycolytic process (GO:0045821)2.62619240
165tryptophan metabolic process (GO:0006568)2.62382333
166cellular component assembly involved in morphogenesis (GO:0010927)2.61723767
167peptidyl-glutamic acid modification (GO:0018200)2.61611204
168RNA destabilization (GO:0050779)2.61262297
169androgen biosynthetic process (GO:0006702)2.60048495
170cilium assembly (GO:0042384)2.59775215
171organelle membrane fusion (GO:0090174)2.57839979
172ectoderm development (GO:0007398)2.57406332
173keratinocyte development (GO:0003334)2.56536572
174sex differentiation (GO:0007548)2.56237674
175negative regulation of cell cycle G2/M phase transition (GO:1902750)2.54595721
176neuronal action potential (GO:0019228)2.54505177
177prostate gland growth (GO:0060736)2.54219030
178GPI anchor biosynthetic process (GO:0006506)2.53046884
179benzene-containing compound metabolic process (GO:0042537)2.50385389
180flavonoid metabolic process (GO:0009812)2.50285546
181positive regulation of megakaryocyte differentiation (GO:0045654)2.49677636
182sperm motility (GO:0030317)13.0781377
183acrosome reaction (GO:0007340)11.6976233
184fusion of sperm to egg plasma membrane (GO:0007342)11.4419825
185sperm-egg recognition (GO:0035036)11.0072821
186acrosome assembly (GO:0001675)10.9637110
187cell wall macromolecule catabolic process (GO:0016998)10.8534410
188cell wall macromolecule metabolic process (GO:0044036)10.8534410
189cilium or flagellum-dependent cell motility (GO:0001539)10.6548510
190binding of sperm to zona pellucida (GO:0007339)10.3771053
191piRNA metabolic process (GO:0034587)10.1243549
192axonemal dynein complex assembly (GO:0070286)10.0580799

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.12564323
2FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse4.15085622
3TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.71692401
4HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse3.07833457
5BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse3.01453401
6HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse2.94959515
7TAF15_26573619_Chip-Seq_HEK293_Human2.78609726
8GBX2_23144817_ChIP-Seq_PC3_Human2.72805181
9PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.67240538
10GATA1_26923725_Chip-Seq_HPCs_Mouse2.58033140
11CREM_20920259_ChIP-Seq_GC1-SPG_Mouse2.46961112
12STAT6_21828071_ChIP-Seq_BEAS2B_Human2.45716758
13ZFP57_27257070_Chip-Seq_ESCs_Mouse2.32742198
14VDR_22108803_ChIP-Seq_LS180_Human2.26558776
15GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.19615397
16ZNF274_21170338_ChIP-Seq_K562_Hela2.16127073
17NOTCH1_21737748_ChIP-Seq_TLL_Human2.12216316
18P300_19829295_ChIP-Seq_ESCs_Human2.07261949
19EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human2.04587281
20* SMAD4_21799915_ChIP-Seq_A2780_Human2.02897842
21MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse11.0077497
22CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.98110842
23ELK4_26923725_Chip-Seq_MESODERM_Mouse1.97089076
24SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.94339170
25PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.93241573
26POU3F2_20337985_ChIP-ChIP_501MEL_Human1.92594692
27UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.90657252
28TOP2B_26459242_ChIP-Seq_MCF-7_Human1.89210376
29EZH2_27304074_Chip-Seq_ESCs_Mouse1.87561575
30AR_25329375_ChIP-Seq_VCAP_Human1.82677768
31* FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.76411602
32CBX2_27304074_Chip-Seq_ESCs_Mouse1.75087120
33FLI1_27457419_Chip-Seq_LIVER_Mouse1.71340477
34EED_16625203_ChIP-ChIP_MESCs_Mouse1.66745653
35IRF1_19129219_ChIP-ChIP_H3396_Human1.64753152
36SOX2_22085726_ChIP-Seq_NPCs_Mouse1.64343720
37STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.59254211
38GATA3_21867929_ChIP-Seq_CD8_Mouse1.58130427
39CTBP1_25329375_ChIP-Seq_LNCAP_Human1.57224988
40STAT1_17558387_ChIP-Seq_HELA_Human1.56312249
41TRIM28_21343339_ChIP-Seq_HEK293_Human1.56245954
42JARID2_20064375_ChIP-Seq_MESCs_Mouse1.56063134
43SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.55417907
44KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.55373123
45P53_22127205_ChIP-Seq_FIBROBLAST_Human1.55101226
46SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.53611025
47TCF4_23295773_ChIP-Seq_U87_Human1.53451442
48* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.53392907
49FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.51259196
50KLF5_20875108_ChIP-Seq_MESCs_Mouse1.51138107
51BMI1_23680149_ChIP-Seq_NPCS_Mouse1.50247456
52AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.49463650
53SMAD3_21741376_ChIP-Seq_EPCs_Human1.48727471
54JARID2_20075857_ChIP-Seq_MESCs_Mouse1.48470929
55STAT3_23295773_ChIP-Seq_U87_Human1.48290210
56RUNX2_22187159_ChIP-Seq_PCA_Human1.47633330
57MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.47592037
58NR3C1_21868756_ChIP-Seq_MCF10A_Human1.46685414
59SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.46072815
60EWS_26573619_Chip-Seq_HEK293_Human1.43819642
61PIAS1_25552417_ChIP-Seq_VCAP_Human1.43538618
62WDR5_24793694_ChIP-Seq_LNCAP_Human1.42601438
63* TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.40806151
64PCGF2_27294783_Chip-Seq_ESCs_Mouse1.40256249
65ER_23166858_ChIP-Seq_MCF-7_Human1.38524067
66CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.37104132
67TBX3_20139965_ChIP-Seq_MESCs_Mouse1.36014779
68SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.35446851
69ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.35332258
70PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.34517763
71IGF1R_20145208_ChIP-Seq_DFB_Human1.34366145
72SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.33554485
73SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.33173165
74TBX3_20139965_ChIP-Seq_ESCs_Mouse1.33124845
75MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.32382361
76GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.32304689
77NR3C1_23031785_ChIP-Seq_PC12_Mouse1.31937338
78* GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse1.31737694
79P53_21459846_ChIP-Seq_SAOS-2_Human1.30760190
80PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.30256079
81PRDM14_20953172_ChIP-Seq_ESCs_Human1.30189914
82CDX2_22108803_ChIP-Seq_LS180_Human1.30055477
83REST_21632747_ChIP-Seq_MESCs_Mouse1.29824535
84TCF4_22108803_ChIP-Seq_LS180_Human1.29380293
85MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.26567643
86ZNF217_24962896_ChIP-Seq_MCF-7_Human1.25354944
87SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.25181936
88CBP_20019798_ChIP-Seq_JUKART_Human1.24889946
89IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.24889946
90RBPJ_22232070_ChIP-Seq_NCS_Mouse1.24512900
91TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.23921338
92RAD21_21589869_ChIP-Seq_MESCs_Mouse1.22932495
93AR_20517297_ChIP-Seq_VCAP_Human1.22204788
94TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.21913714
95TAL1_26923725_Chip-Seq_HPCs_Mouse1.21148355
96* LUZP1_20508642_ChIP-Seq_ESCs_Mouse1.20909317
97AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.20836761
98RXRA_24833708_ChIP-Seq_LIVER_Mouse1.20416187
99SETDB1_19884257_ChIP-Seq_MESCs_Mouse1.19003780
100KDM2B_26808549_Chip-Seq_REH_Human1.18468432
101TET1_21451524_ChIP-Seq_MESCs_Mouse1.18080972
102RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.17813583
103SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.17813000
104YY1_22570637_ChIP-Seq_MALME-3M_Human1.17182051
105BCAT_22108803_ChIP-Seq_LS180_Human1.17048537
106SMAD4_21741376_ChIP-Seq_EPCs_Human1.16966247
107RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.16258185
108RNF2_27304074_Chip-Seq_ESCs_Mouse1.14747953
109GF1_26923725_Chip-Seq_HPCs_Mouse1.14440506
110CDX2_19796622_ChIP-Seq_MESCs_Mouse1.14398382
111CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.14272649
112KAP1_22055183_ChIP-Seq_ESCs_Mouse1.13874850
113MYC_27129775_Chip-Seq_CORNEA_Mouse1.13806072
114FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.13753531
115TP53_18474530_ChIP-ChIP_U2OS_Human1.13275058
116ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.12899594
117SPI1_26923725_Chip-Seq_HPCs_Mouse1.12178492
118GATA3_21867929_ChIP-Seq_TH1_Mouse1.11364445
119FOXA1_21572438_ChIP-Seq_LNCaP_Human1.11137915
120CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse1.11088690
121FOXM1_26456572_ChIP-Seq_MCF-7_Human1.10732858
122NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.10458135
123NRF2_20460467_ChIP-Seq_MEFs_Mouse1.10458135
124NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.09684208
125* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.09444244
126TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.09199173
127POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.09199173
128* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.08340070
129TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.08165180
130RUNX1_26923725_Chip-Seq_HPCs_Mouse1.08014568
131PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.07567166
132* CBP_21632823_ChIP-Seq_H3396_Human1.07264196
133SALL1_21062744_ChIP-ChIP_HESCs_Human1.07174638
134RARA_24833708_ChIP-Seq_LIVER_Mouse1.06771431
135ERG_20517297_ChIP-Seq_VCAP_Human1.06245132
136NFE2_27457419_Chip-Seq_LIVER_Mouse1.05541261
137* TP63_23658742_ChIP-Seq_EP156T_Human1.05277889
138PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.05120022
139SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.04945066
140OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.04920333
141FOXA1_27270436_Chip-Seq_PROSTATE_Human1.04680268
142FOXA1_25329375_ChIP-Seq_VCAP_Human1.04680268
143GATA1_19941827_ChIP-Seq_MEL86_Mouse1.04044984
144RXR_22108803_ChIP-Seq_LS180_Human1.03930140
145SMAD3_21741376_ChIP-Seq_HESCs_Human1.03490184
146EZH2_18974828_ChIP-Seq_MESCs_Mouse1.03310950
147PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.02298396
148ELF1_20517297_ChIP-Seq_JURKAT_Human1.01925660
149TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.01346261
150CTCF_20526341_ChIP-Seq_ESCs_Human1.01196810
151RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.00611496
152EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.98665126
153* ESET_19884257_ChIP-Seq_ESCs_Mouse0.97817453
154BCOR_27268052_Chip-Seq_Bcells_Human0.97388782
155PCGF2_27294783_Chip-Seq_NPCs_Mouse0.97049374
156LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse0.96285358
157* FLI1_21867929_ChIP-Seq_TH2_Mouse0.96239540
158JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse0.95597592
159TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.94371816
160ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.93933182
161SOX11_22085726_ChIP-Seq_ESNs_Mouse0.93363821
162FLI1_21867929_ChIP-Seq_CD8_Mouse0.92650767
163PHF8_20622854_ChIP-Seq_HELA_Human0.91735420
164TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.90563020
165RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.90497877
166NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.87754289
167BCL6_27268052_Chip-Seq_Bcells_Human0.87217603
168SUZ12_27294783_Chip-Seq_NPCs_Mouse0.87056960
169PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.86885591
170CTBP2_25329375_ChIP-Seq_LNCAP_Human0.86840210
171CRX_20693478_ChIP-Seq_RETINA_Mouse0.85952899
172* SOX2_21211035_ChIP-Seq_LN229_Human0.84679405
173CTCF_26484167_Chip-Seq_Bcells_Mouse0.84591577
174PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.84355448
175NANOG_20526341_ChIP-Seq_ESCs_Human0.83665087
176SMC4_20622854_ChIP-Seq_HELA_Human0.83109935
177EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.82951449
178CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.82651695
179SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.82508385
180NFIB_24661679_ChIP-Seq_LUNG_Mouse0.81485243

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003698_abnormal_male_reproductive6.00683983
2MP0001929_abnormal_gametogenesis5.66552265
3MP0008877_abnormal_DNA_methylation5.09616173
4MP0000566_synostosis4.60004272
5MP0002210_abnormal_sex_determination3.74551234
6MP0003283_abnormal_digestive_organ3.67803652
7MP0002822_catalepsy3.49387120
8MP0002161_abnormal_fertility/fecundity3.26886124
9MP0002638_abnormal_pupillary_reflex3.22041486
10MP0002909_abnormal_adrenal_gland3.20596056
11MP0001145_abnormal_male_reproductive3.15987138
12MP0002277_abnormal_respiratory_mucosa3.08199559
13MP0000653_abnormal_sex_gland2.71063167
14MP0002254_reproductive_system_inflammat2.68392645
15MP0010386_abnormal_urinary_bladder2.58233866
16MP0005670_abnormal_white_adipose2.38769849
17MP0002653_abnormal_ependyma_morphology2.33825722
18MP0003195_calcinosis2.21244609
19MP0006292_abnormal_olfactory_placode2.14553108
20MP0002090_abnormal_vision2.11069029
21MP0003136_yellow_coat_color2.10911748
22MP0002693_abnormal_pancreas_physiology2.09579936
23MP0003959_abnormal_lean_body2.04306247
24MP0005410_abnormal_fertilization15.8648198
25MP0002735_abnormal_chemical_nociception1.99519470
26MP0009780_abnormal_chondrocyte_physiolo1.92467153
27MP0003646_muscle_fatigue1.85003135
28MP0002102_abnormal_ear_morphology1.82579918
29MP0002160_abnormal_reproductive_system1.81868350
30MP0002876_abnormal_thyroid_physiology1.65474798
31MP0003941_abnormal_skin_development1.60717372
32MP0010329_abnormal_lipoprotein_level1.52397851
33MP0008057_abnormal_DNA_replication1.49189815
34MP0000230_abnormal_systemic_arterial1.48062006
35MP0004233_abnormal_muscle_weight1.47794921
36MP0002078_abnormal_glucose_homeostasis1.44074693
37MP0002938_white_spotting1.43901037
38MP0000427_abnormal_hair_cycle1.42051515
39MP0001756_abnormal_urination1.41209215
40MP0000631_abnormal_neuroendocrine_gland1.40957688
41MP0001919_abnormal_reproductive_system1.40741739
42MP0001944_abnormal_pancreas_morphology1.38814757
43MP0003868_abnormal_feces_composition1.37756582
44MP0005623_abnormal_meninges_morphology1.35296863
45MP0002163_abnormal_gland_morphology1.32424009
46MP0000372_irregular_coat_pigmentation1.31279333
47MP0003690_abnormal_glial_cell1.30077489
48MP0005075_abnormal_melanosome_morpholog1.29043891
49MP0002272_abnormal_nervous_system1.28838640
50MP0001968_abnormal_touch/_nociception1.26888555
51MP0005394_taste/olfaction_phenotype1.25495374
52MP0005499_abnormal_olfactory_system1.25495374
53MP0009745_abnormal_behavioral_response1.22030672
54MP0001440_abnormal_grooming_behavior1.21527803
55MP0006072_abnormal_retinal_apoptosis1.21508875
56MP0005257_abnormal_intraocular_pressure1.18802807
57MP0003121_genomic_imprinting1.18212974
58MP0004142_abnormal_muscle_tone1.16190492
59MP0005448_abnormal_energy_balance1.15285439
60MP0008789_abnormal_olfactory_epithelium1.15081283
61MP0000685_abnormal_immune_system1.13020057
62MP0002064_seizures1.12916474
63MP0004145_abnormal_muscle_electrophysio1.10324596
64MP0001970_abnormal_pain_threshold1.09938322
65MP0005187_abnormal_penis_morphology1.08903999
66MP0003183_abnormal_peptide_metabolism1.08095155
67MP0003890_abnormal_embryonic-extraembry1.07774133
68MP0001984_abnormal_olfaction1.07254588
69MP0009840_abnormal_foam_cell1.06892315
70MP0003638_abnormal_response/metabolism_1.06371027
71MP0002184_abnormal_innervation1.06051180
72MP0002751_abnormal_autonomic_nervous1.05860036
73MP0008058_abnormal_DNA_repair1.04702337
74MP0006276_abnormal_autonomic_nervous1.03066883
75MP0005379_endocrine/exocrine_gland_phen0.99893959
76MP0002282_abnormal_trachea_morphology0.99378159
77MP0002733_abnormal_thermal_nociception0.98165779
78MP0002234_abnormal_pharynx_morphology0.96330531
79MP0002118_abnormal_lipid_homeostasis0.95674469
80MP0002557_abnormal_social/conspecific_i0.94388299
81MP0002067_abnormal_sensory_capabilities0.93712726
82MP0002837_dystrophic_cardiac_calcinosis0.93410650
83MP0010094_abnormal_chromosome_stability0.93117167
84MP0004130_abnormal_muscle_cell0.92785669
85MP0002229_neurodegeneration0.92611487
86MP0005646_abnormal_pituitary_gland0.90669783
87MP0003011_delayed_dark_adaptation0.90105428
88MP0005647_abnormal_sex_gland0.88034299
89MP0005389_reproductive_system_phenotype0.87278127
90MP0008995_early_reproductive_senescence0.86937947
91MP0001501_abnormal_sleep_pattern0.86193401
92MP0001664_abnormal_digestion0.85042461
93MP0003122_maternal_imprinting0.84753044
94MP0001765_abnormal_ion_homeostasis0.81256191
95MP0002734_abnormal_mechanical_nocicepti0.79466830
96MP0001542_abnormal_bone_strength0.79224051
97MP0003953_abnormal_hormone_level0.78119707
98MP0003315_abnormal_perineum_morphology0.77091879
99MP0004859_abnormal_synaptic_plasticity0.76380204
100MP0002063_abnormal_learning/memory/cond0.75560333
101MP0005360_urolithiasis0.75433419
102MP0009384_cardiac_valve_regurgitation0.73437672
103MP0009046_muscle_twitch0.71013933
104MP0003115_abnormal_respiratory_system0.70155362
105MP0003878_abnormal_ear_physiology0.69921269
106MP0005377_hearing/vestibular/ear_phenot0.69921269
107MP0008007_abnormal_cellular_replicative0.67826506
108MP0003786_premature_aging0.66656708
109MP0009278_abnormal_bone_marrow0.64717975
110MP0000358_abnormal_cell_content/0.61677940
111MP0003329_amyloid_beta_deposits0.57438537
112MP0001545_abnormal_hematopoietic_system0.56804617
113MP0005397_hematopoietic_system_phenotyp0.56804617
114MP0003111_abnormal_nucleus_morphology0.53156549
115MP0004036_abnormal_muscle_relaxation0.53022677
116MP0005666_abnormal_adipose_tissue0.52814204
117MP0000569_abnormal_digit_pigmentation0.52105705
118MP0002269_muscular_atrophy0.50104047
119MP0006036_abnormal_mitochondrial_physio0.48712786
120MP0003699_abnormal_female_reproductive0.48683375
121MP0004808_abnormal_hematopoietic_stem0.46662300
122MP0001730_embryonic_growth_arrest0.45930787
123MP0001293_anophthalmia0.44190938
124MP0005636_abnormal_mineral_homeostasis0.40329797
125MP0004134_abnormal_chest_morphology0.39951780
126MP0001324_abnormal_eye_pigmentation0.38661136
127MP0010307_abnormal_tumor_latency0.36407354
128MP0004133_heterotaxia0.36052653
129MP0003950_abnormal_plasma_membrane0.35067256
130MP0001119_abnormal_female_reproductive0.34470109
131MP0002928_abnormal_bile_duct0.33962676
132MP0000534_abnormal_ureter_morphology0.33819612
133MP0005253_abnormal_eye_physiology0.33711336
134MP0001661_extended_life_span0.31978132
135MP0001764_abnormal_homeostasis0.31822380
136MP0000751_myopathy0.31335991
137MP0006035_abnormal_mitochondrial_morpho0.30948266
138MP0005391_vision/eye_phenotype0.29723826
139MP0004811_abnormal_neuron_physiology0.29675558
140MP0001727_abnormal_embryo_implantation0.29040506
141MP0003861_abnormal_nervous_system0.28740978
142MP0003045_fibrosis0.28622147
143MP0009115_abnormal_fat_cell0.28109523
144MP0003942_abnormal_urinary_system0.27914979
145MP0000604_amyloidosis0.27793307
146MP0003879_abnormal_hair_cell0.27522414
147MP0003077_abnormal_cell_cycle0.26526715
148MP0005551_abnormal_eye_electrophysiolog0.26220454
149MP0000313_abnormal_cell_death0.26036226
150MP0002084_abnormal_developmental_patter0.25787931
151MP0002971_abnormal_brown_adipose0.25364532
152MP0002736_abnormal_nociception_after0.24942321
153MP0002152_abnormal_brain_morphology0.24038169
154MP0002169_no_abnormal_phenotype0.21923566
155MP0008961_abnormal_basal_metabolism0.21905246
156MP0002873_normal_phenotype0.21675418
157MP0001672_abnormal_embryogenesis/_devel0.21420570
158MP0005380_embryogenesis_phenotype0.21420570
159MP0002092_abnormal_eye_morphology0.20840756
160MP0003936_abnormal_reproductive_system0.19556443
161MP0003633_abnormal_nervous_system0.19473642
162MP0003948_abnormal_gas_homeostasis0.19426163
163MP0001697_abnormal_embryo_size0.19366903
164MP0004043_abnormal_pH_regulation0.18603147
165MP0003631_nervous_system_phenotype0.18389484
166MP0001849_ear_inflammation0.18158794
167MP0000537_abnormal_urethra_morphology0.16462331
168MP0002108_abnormal_muscle_morphology0.16425155
169MP0004019_abnormal_vitamin_homeostasis0.15534525
170MP0003984_embryonic_growth_retardation0.15001392
171MP0002080_prenatal_lethality0.14907785
172MP0002106_abnormal_muscle_physiology0.14877550
173MP0004742_abnormal_vestibular_system0.14865147
174MP0000001_mammalian_phenotype0.14793073
175MP0002295_abnormal_pulmonary_circulatio0.14054232
176MP0003787_abnormal_imprinting0.13975563
177MP0005375_adipose_tissue_phenotype0.13423388

Predicted human phenotypes

RankGene SetZ-score
1Abnormal respiratory motile cilium physiology (HP:0012261)9.23312207
2Abnormal respiratory motile cilium morphology (HP:0005938)8.83109595
3Abnormal respiratory epithelium morphology (HP:0012253)8.83109595
4Rhinitis (HP:0012384)7.82245134
5Chronic bronchitis (HP:0004469)7.46482812
6Infertility (HP:0000789)7.04400469
7Abnormal ciliary motility (HP:0012262)6.93942420
8Hyperinsulinemic hypoglycemia (HP:0000825)6.73560037
9Nasal polyposis (HP:0100582)6.61573068
10Large for gestational age (HP:0001520)6.34088283
11Hypoglycemic coma (HP:0001325)5.88297070
12Abnormality of the nasal mucosa (HP:0000433)5.43989681
13Aplasia/hypoplasia of the uterus (HP:0008684)5.32886174
14Pancreatic islet-cell hyperplasia (HP:0004510)5.11837093
15Thyroid-stimulating hormone excess (HP:0002925)4.83312457
16Hypoglycemic seizures (HP:0002173)4.77802426
17Type I diabetes mellitus (HP:0100651)4.70205936
18Insulin-resistant diabetes mellitus (HP:0000831)4.56696312
19Bronchiectasis (HP:0002110)4.55941194
20Bronchitis (HP:0012387)4.48714839
21Nephronophthisis (HP:0000090)4.40439384
22Premature ovarian failure (HP:0008209)4.31894941
23Ketoacidosis (HP:0001993)4.27459506
24Hypoplasia of the uterus (HP:0000013)4.13348323
25Male infertility (HP:0003251)4.09796546
26Abnormality of the pancreatic islet cells (HP:0006476)4.06137765
27Abnormality of endocrine pancreas physiology (HP:0012093)4.06137765
28Hyperglycemia (HP:0003074)3.73088364
29Abnormal spermatogenesis (HP:0008669)3.42114117
30Gonadotropin excess (HP:0000837)3.34793974
31Abnormality of the renal medulla (HP:0100957)3.29589362
32Generalized aminoaciduria (HP:0002909)3.28677775
33Proximal tubulopathy (HP:0000114)3.26193139
34Recurrent otitis media (HP:0000403)3.26182797
35Sex reversal (HP:0012245)3.21533439
36Abnormal sex determination (HP:0012244)3.21533439
37Ketosis (HP:0001946)3.17727141
38Abnormality of the lower motor neuron (HP:0002366)3.16594444
39Sparse lateral eyebrow (HP:0005338)3.00468176
40Short chin (HP:0000331)2.86369810
41Hypochromic microcytic anemia (HP:0004840)2.85646952
42Tetraparesis (HP:0002273)2.85623827
43Lower limb hyperreflexia (HP:0002395)2.84815098
44White forelock (HP:0002211)2.83284978
45Progressive hearing impairment (HP:0001730)2.81506376
46Recurrent sinusitis (HP:0011108)2.79640404
47Global brain atrophy (HP:0002283)2.76244551
48Tubulointerstitial nephritis (HP:0001970)2.75335934
49Patchy hypopigmentation of hair (HP:0011365)2.75009716
50Prominent metopic ridge (HP:0005487)2.71116686
51Symptomatic seizures (HP:0011145)2.70796502
52Tubular atrophy (HP:0000092)2.69243755
53Unilateral renal agenesis (HP:0000122)2.68648712
54Epileptiform EEG discharges (HP:0011182)2.66371294
55Renal cortical cysts (HP:0000803)2.65108840
56Increased neuronal autofluorescent lipopigment (HP:0002074)2.64562154
57Impulsivity (HP:0100710)2.61187244
58Molar tooth sign on MRI (HP:0002419)2.58099044
59Abnormality of midbrain morphology (HP:0002418)2.58099044
60Azoospermia (HP:0000027)2.56386390
61Amyotrophic lateral sclerosis (HP:0007354)2.51394495
62Recurrent bronchitis (HP:0002837)2.50202858
63Xanthomatosis (HP:0000991)2.50082774
64Hyperlipoproteinemia (HP:0010980)2.49037399
65Glycosuria (HP:0003076)2.48759430
66Abnormality of urine glucose concentration (HP:0011016)2.48759430
67EEG with generalized epileptiform discharges (HP:0011198)2.47147876
68Bundle branch block (HP:0011710)2.46345336
69Tubulointerstitial abnormality (HP:0001969)2.46052709
70Hydroxyprolinuria (HP:0003080)2.45443987
71Abnormality of proline metabolism (HP:0010907)2.45443987
72Abnormality of alanine metabolism (HP:0010916)2.44744932
73Hyperalaninemia (HP:0003348)2.44744932
74Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.44744932
75Fibular hypoplasia (HP:0003038)2.42471334
76Abnormality of the antihelix (HP:0009738)2.38690773
77Medial flaring of the eyebrow (HP:0010747)2.35418349
78Absence seizures (HP:0002121)2.35111601
79Thyroiditis (HP:0100646)2.29532296
80Abnormality of the metopic suture (HP:0005556)2.27371262
81Dialeptic seizures (HP:0011146)2.24695262
82Abnormality of chromosome stability (HP:0003220)2.22645826
83Insulin resistance (HP:0000855)2.21316644
84Increased cerebral lipofuscin (HP:0011813)2.21279609
85Progressive external ophthalmoplegia (HP:0000590)2.15276070
86Vacuolated lymphocytes (HP:0001922)2.11849803
87Abnormal gallbladder physiology (HP:0012438)2.10334447
88Cholecystitis (HP:0001082)2.10334447
89Severe combined immunodeficiency (HP:0004430)2.09806416
90Palpebral edema (HP:0100540)2.08348769
91Tubulointerstitial fibrosis (HP:0005576)2.06561911
92Abolished electroretinogram (ERG) (HP:0000550)2.03891580
93Impaired proprioception (HP:0010831)2.03377069
94Postaxial foot polydactyly (HP:0001830)2.00864688
95Hypoplasia of the capital femoral epiphysis (HP:0003090)2.00680783
96Respiratory insufficiency due to defective ciliary clearance (HP:0200073)13.1450562
97Dynein arm defect of respiratory motile cilia (HP:0012255)12.4985103
98Absent/shortened dynein arms (HP:0200106)12.4985103
99Metaphyseal dysplasia (HP:0100255)1.99083998
100Stage 5 chronic kidney disease (HP:0003774)1.98152392
101Intestinal atresia (HP:0011100)1.93784340
102Spastic tetraparesis (HP:0001285)1.92171246
103Pancreatic fibrosis (HP:0100732)1.91369342
104Secondary amenorrhea (HP:0000869)1.91259724
105Cortical visual impairment (HP:0100704)1.91253205
106Abnormality of glycolipid metabolism (HP:0010969)1.90128675
107Abnormality of liposaccharide metabolism (HP:0010968)1.90128675
108Abnormality of glycosphingolipid metabolism (HP:0004343)1.90128675
109Opisthotonus (HP:0002179)1.88101840
110Abnormal drinking behavior (HP:0030082)1.87688926
111Polydipsia (HP:0001959)1.87688926
112Abnormal pancreas size (HP:0012094)1.86860074
113Late onset (HP:0003584)1.85105428
114Arthropathy (HP:0003040)1.84791268
115Vertebral compression fractures (HP:0002953)1.84340764
116Septate vagina (HP:0001153)1.83679757
117Hypsarrhythmia (HP:0002521)1.82904563
118Abnormal biliary tract morphology (HP:0012440)1.82476918
119Congenital hepatic fibrosis (HP:0002612)1.81393436
120Rectal fistula (HP:0100590)1.80602628
121Rectovaginal fistula (HP:0000143)1.80602628
122Prominent supraorbital ridges (HP:0000336)1.78953164
123Hypothermia (HP:0002045)1.76745695
124Hypoventilation (HP:0002791)1.76607497
125Gastrointestinal atresia (HP:0002589)1.76089511
126Short ribs (HP:0000773)1.75860134
127Oculomotor apraxia (HP:0000657)1.75061029
128Dyschromatopsia (HP:0007641)1.73900669
129Renal dysplasia (HP:0000110)1.71024467
130Vascular calcification (HP:0004934)1.69626398
131Upper motor neuron abnormality (HP:0002127)1.68893447
132Blue irides (HP:0000635)1.68773024
133Abnormality of the renal cortex (HP:0011035)1.67820135
134Cone-rod dystrophy (HP:0000548)1.67532877
135Respiratory distress (HP:0002098)1.67263042
136Heterotopia (HP:0002282)1.66112791
137Abnormality of glutamine family amino acid metabolism (HP:0010902)1.65332810
138Supranuclear gaze palsy (HP:0000605)1.65133588
139Abnormality of dicarboxylic acid metabolism (HP:0010995)1.64464170
140Dicarboxylic aciduria (HP:0003215)1.64464170
141Choroideremia (HP:0001139)1.63901883
142Axonal loss (HP:0003447)1.63672876
143Abnormality of dentin (HP:0010299)1.63158264
144Facial cleft (HP:0002006)1.62993668
145Exercise-induced myalgia (HP:0003738)1.58472018
146Absent epiphyses (HP:0010577)1.57027423
147Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.57027423
148Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)1.56988937
149Bell-shaped thorax (HP:0001591)1.55724843
150Double outlet right ventricle (HP:0001719)1.54265064
151Congenital malformation of the right heart (HP:0011723)1.54265064
152Postaxial hand polydactyly (HP:0001162)1.51917593
153Abnormality of renal excretion (HP:0011036)1.51672388
154Degeneration of anterior horn cells (HP:0002398)1.51392489
155Abnormality of the anterior horn cell (HP:0006802)1.51392489
156Abnormal biliary tract physiology (HP:0012439)1.49981666
157Bile duct proliferation (HP:0001408)1.49981666
158Chronic sinusitis (HP:0011109)1.48869899
159Neurofibrillary tangles (HP:0002185)1.47953448
160Supernumerary spleens (HP:0009799)1.47671516
161Aplasia/Hypoplasia of the fibula (HP:0006492)1.46852794
162Abnormality of the dental root (HP:0006486)1.43609560
163Taurodontia (HP:0000679)1.43609560
164Abnormality of permanent molar morphology (HP:0011071)1.43609560
16511 pairs of ribs (HP:0000878)1.40499891
166Short thorax (HP:0010306)1.38892815
167Broad distal phalanx of finger (HP:0009836)1.38707042
168Aplasia/Hypoplasia of the lens (HP:0008063)1.38656352
169Cerebellar dysplasia (HP:0007033)1.38174725
170Hemorrhage of the eye (HP:0011885)1.36818789
171Decreased central vision (HP:0007663)1.36699291
172Easy fatigability (HP:0003388)1.35687816
173Abnormality of molar (HP:0011077)1.32894145
174Abnormality of molar morphology (HP:0011070)1.32894145
175Abnormality of the dental pulp (HP:0006479)1.32305988
176Deformed sella turcica (HP:0002681)1.32170388
177Loss of speech (HP:0002371)1.31663260
178Decreased electroretinogram (ERG) amplitude (HP:0000654)1.31446763
179Abnormal urine output (HP:0012590)1.31364539
180Cystic liver disease (HP:0006706)1.30191778
181Short femoral neck (HP:0100864)1.30066408
182Abnormality of ocular smooth pursuit (HP:0000617)1.29127330
183Median cleft lip (HP:0000161)1.28784506
184Nephropathy (HP:0000112)1.28265402
185Absent frontal sinuses (HP:0002688)1.26392515
186Myoglobinuria (HP:0002913)1.24540150
187Difficulty climbing stairs (HP:0003551)1.24213282
188Pachygyria (HP:0001302)1.23744538
189Sensory axonal neuropathy (HP:0003390)1.23076246
190Retinal dysplasia (HP:0007973)1.20178032

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PDK38.31602728
2PDK48.31602728
3FRK7.64551527
4TESK16.13961711
5PDK25.37134876
6PRKD34.55262652
7ICK4.42224711
8MAP3K72.73325739
9ADRBK22.65489234
10TAOK32.49249272
11PTK2B2.32608614
12WNK42.27451968
13PKN12.22312270
14STK392.18722217
15ZAK2.06852217
16CAMK1D2.06360869
17NEK22.00711709
18STK381.86006033
19PNCK1.76528507
20CAMK11.70872045
21ACVR1B1.69487663
22INSRR1.60630073
23NTRK31.53153683
24ADRBK11.49967951
25DYRK1B1.39357788
26TLK11.39315277
27CAMKK21.38531248
28DAPK21.37139641
29PRKAA21.32482154
30CDK31.31316311
31PLK21.24521868
32CASK1.21369926
33CDK81.14953651
34PDK11.13139246
35ZAP701.11982444
36MAPK151.11565503
37GRK11.10602223
38WNK11.02664693
39DMPK1.01990673
40TYRO30.99071232
41MYLK0.95901996
42RPS6KA50.90439470
43CCNB10.89009213
44DYRK30.88332009
45PASK0.85929474
46VRK10.85916335
47STK30.85238022
48NUAK10.83913838
49CAMK2A0.83380699
50HIPK20.81559362
51ILK0.81284989
52RPS6KA40.80901919
53PRKCE0.79285637
54PINK10.77889252
55BCR0.77859904
56IKBKE0.75869929
57MAPK130.74911869
58TTK0.70659125
59IRAK10.68177637
60PDPK10.66688236
61PRKD20.65138632
62EEF2K0.65128786
63CDC70.61973645
64TGFBR10.58693493
65LATS10.58285337
66TESK20.54116963
67CHEK20.53531346
68RIPK40.52817505
69CAMK2D0.52481418
70IRAK30.52195530
71PRKACA0.51305746
72TEC0.50944843
73PTK60.49454710
74NTRK20.47208267
75ATR0.45955393
76CHEK10.44685441
77TNIK0.43652224
78LRRK20.43542401
79RPS6KA60.43405172
80MUSK0.43034998
81PHKG20.43026134
82PHKG10.43026134
83WEE10.41314375
84CSNK1E0.41263563
85PRKCA0.37619086
86PRKCD0.35729538
87LIMK10.35510785
88CAMK40.35085393
89LMTK20.33466116
90PRKD10.32664044
91PRKCG0.32457743
92MAP2K20.32318453
93STK38L0.32114136
94MAP2K10.31606654
95IRAK20.31269434
96MTOR0.31135341
97PIK3CA0.30516630
98PAK10.30515131
99TIE10.30326208
100ATM0.30207483
101CAMK1G0.29617161
102CSNK1A10.28798716
103OBSCN0.28528939
104STK240.28177167
105BTK0.26940927
106CAMKK10.26738816
107SGK20.26432974
108STK160.25552419
109IRAK40.25372179
110MAP3K100.25363791
111PAK20.25286271
112CDK90.24594037
113PRKAA10.23127375
114MARK20.23004701
115MAPKAPK50.22144316
116CDK120.20958252
117PLK10.20678162
118PAK40.19723007
119BMPR1B0.19372548
120MAP2K60.18473769
121RPS6KB10.16021747
122PRKCZ0.14598886
123WNK30.13307027
124CSF1R0.12294833
125CDK150.10853563
126BRAF0.10831907
127PLK40.10815377
128PRKCQ0.09718596
129CDK180.08242945
130RPS6KA10.08147770
131CDK11A0.07336051
132PAK60.06530516
133TAOK10.06311039
134CSNK2A10.05835995
135BRSK20.05529559
136STK100.05143737
137BUB10.04856073
138GSK3B0.04714598
139CDK20.04199385
140CDK10.04138257
141CDK140.03791383
142MAPK80.03497715
143STK110.03485630
144TRIB30.03131430
145PDGFRB0.02892412
146PRKACG0.02215410
147PRKG20.01697219
148BRSK10.01651516
149MARK30.01601280
150MAP3K40.01496274
151NEK60.01185249
152CLK10.00963179
153EGFR0.00835190
154PRKACB0.00245330
155CSNK1D-0.0255772
156CSNK2A2-0.0241828
157PRKDC-0.0233207
158CDK4-0.0163338
159RPS6KA3-0.0154816
160CDK6-0.0139731
161CSK-0.0105990
162AURKA-0.0097830
163PRKCB-0.0079893
164YES1-0.0062417
165PIM1-0.0048232
166PRKG1-0.0019125

Predicted pathways (KEGG)

RankGene SetZ-score
1Maturity onset diabetes of the young_Homo sapiens_hsa049506.99340777
2Fatty acid biosynthesis_Homo sapiens_hsa000614.36173634
3Glycolysis / Gluconeogenesis_Homo sapiens_hsa000104.21258175
4Vitamin B6 metabolism_Homo sapiens_hsa007503.91130249
5Pyruvate metabolism_Homo sapiens_hsa006203.74674203
6Butanoate metabolism_Homo sapiens_hsa006503.59358949
7alpha-Linolenic acid metabolism_Homo sapiens_hsa005923.23011914
8Linoleic acid metabolism_Homo sapiens_hsa005913.12547121
9Synthesis and degradation of ketone bodies_Homo sapiens_hsa000723.01027176
10Glucagon signaling pathway_Homo sapiens_hsa049222.75292804
11Propanoate metabolism_Homo sapiens_hsa006402.71941009
12Tryptophan metabolism_Homo sapiens_hsa003802.64500362
13Selenocompound metabolism_Homo sapiens_hsa004502.51778095
14Basal transcription factors_Homo sapiens_hsa030222.48783832
15Dorso-ventral axis formation_Homo sapiens_hsa043202.38944267
16SNARE interactions in vesicular transport_Homo sapiens_hsa041302.31220112
17Pantothenate and CoA biosynthesis_Homo sapiens_hsa007702.16309059
18Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.12742602
19Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.10587317
20Type II diabetes mellitus_Homo sapiens_hsa049302.07982981
21Carbohydrate digestion and absorption_Homo sapiens_hsa049732.06295267
22Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.95445892
23Glycerolipid metabolism_Homo sapiens_hsa005611.94270299
24Pentose phosphate pathway_Homo sapiens_hsa000301.91707373
25Fanconi anemia pathway_Homo sapiens_hsa034601.89846569
26Peroxisome_Homo sapiens_hsa041461.85059654
27Fatty acid elongation_Homo sapiens_hsa000621.83383361
28Lysine degradation_Homo sapiens_hsa003101.80158657
29Oocyte meiosis_Homo sapiens_hsa041141.79858626
30Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.79601998
31Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.76885678
32Non-homologous end-joining_Homo sapiens_hsa034501.71414984
33Glycerophospholipid metabolism_Homo sapiens_hsa005641.71035981
34PPAR signaling pathway_Homo sapiens_hsa033201.70303506
35Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.69451518
36Phototransduction_Homo sapiens_hsa047441.68398887
37Fat digestion and absorption_Homo sapiens_hsa049751.63865678
38Amphetamine addiction_Homo sapiens_hsa050311.62660197
39Fructose and mannose metabolism_Homo sapiens_hsa000511.51935957
40Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.48967186
41Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.44563339
42Ether lipid metabolism_Homo sapiens_hsa005651.43138095
43Olfactory transduction_Homo sapiens_hsa047401.42300870
44Fatty acid metabolism_Homo sapiens_hsa012121.39670378
45Carbon metabolism_Homo sapiens_hsa012001.37188249
46Cysteine and methionine metabolism_Homo sapiens_hsa002701.36077221
47Cardiac muscle contraction_Homo sapiens_hsa042601.34890550
48Fatty acid degradation_Homo sapiens_hsa000711.30774333
49Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.25285748
50Huntingtons disease_Homo sapiens_hsa050161.22012541
51Sulfur relay system_Homo sapiens_hsa041221.20874264
52Antigen processing and presentation_Homo sapiens_hsa046121.19860361
53Ovarian steroidogenesis_Homo sapiens_hsa049131.19827894
54Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.18576068
55mRNA surveillance pathway_Homo sapiens_hsa030151.15411889
56Renin secretion_Homo sapiens_hsa049241.14133377
57Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.13768788
58Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.12065215
59Mineral absorption_Homo sapiens_hsa049781.11339674
60Nitrogen metabolism_Homo sapiens_hsa009101.06495434
61Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.06264992
62Protein export_Homo sapiens_hsa030601.05512843
63RNA transport_Homo sapiens_hsa030131.01093604
64Retinol metabolism_Homo sapiens_hsa008300.99946299
65Systemic lupus erythematosus_Homo sapiens_hsa053220.96986389
66Glutathione metabolism_Homo sapiens_hsa004800.94403160
67Hedgehog signaling pathway_Homo sapiens_hsa043400.92905836
68Oxidative phosphorylation_Homo sapiens_hsa001900.90650655
69Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.89868103
70Purine metabolism_Homo sapiens_hsa002300.87210959
71Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.86282182
72Long-term potentiation_Homo sapiens_hsa047200.86048409
73Biosynthesis of amino acids_Homo sapiens_hsa012300.83815913
74Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.81370438
75Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.81141282
76Estrogen signaling pathway_Homo sapiens_hsa049150.79563661
77Glycosaminoglycan degradation_Homo sapiens_hsa005310.78252287
78Arachidonic acid metabolism_Homo sapiens_hsa005900.78249120
79Adipocytokine signaling pathway_Homo sapiens_hsa049200.77424532
80Central carbon metabolism in cancer_Homo sapiens_hsa052300.75414106
81Steroid hormone biosynthesis_Homo sapiens_hsa001400.74037387
82Other glycan degradation_Homo sapiens_hsa005110.72868681
83ABC transporters_Homo sapiens_hsa020100.72384906
84Chemical carcinogenesis_Homo sapiens_hsa052040.70506331
85Folate biosynthesis_Homo sapiens_hsa007900.70377831
86cGMP-PKG signaling pathway_Homo sapiens_hsa040220.67758465
87Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.67350885
88Legionellosis_Homo sapiens_hsa051340.65849748
89Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.65240749
90Starch and sucrose metabolism_Homo sapiens_hsa005000.59468020
91Collecting duct acid secretion_Homo sapiens_hsa049660.58378277
92Nicotine addiction_Homo sapiens_hsa050330.58150806
93Alcoholism_Homo sapiens_hsa050340.58118249
94VEGF signaling pathway_Homo sapiens_hsa043700.56304578
95Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.53370614
96Insulin secretion_Homo sapiens_hsa049110.53203863
97AMPK signaling pathway_Homo sapiens_hsa041520.52360401
98Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.50835200
99Thyroid hormone synthesis_Homo sapiens_hsa049180.48321926
100Bile secretion_Homo sapiens_hsa049760.47657389
101Vascular smooth muscle contraction_Homo sapiens_hsa042700.47620085
102Lysosome_Homo sapiens_hsa041420.47300190
103Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.47208491
104Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.45639787
105Endocytosis_Homo sapiens_hsa041440.45225828
106Melanoma_Homo sapiens_hsa052180.44720736
107Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.44027718
108Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.43821064
109Primary bile acid biosynthesis_Homo sapiens_hsa001200.43403027
110Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.42970712
111Calcium signaling pathway_Homo sapiens_hsa040200.42651026
112Type I diabetes mellitus_Homo sapiens_hsa049400.40269666
113Pancreatic secretion_Homo sapiens_hsa049720.36688651
114Glutamatergic synapse_Homo sapiens_hsa047240.35546944
115Aldosterone synthesis and secretion_Homo sapiens_hsa049250.34763445
116Phosphatidylinositol signaling system_Homo sapiens_hsa040700.32703174
117beta-Alanine metabolism_Homo sapiens_hsa004100.32414524
118Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.31165434
119Metabolic pathways_Homo sapiens_hsa011000.30489945
120Parkinsons disease_Homo sapiens_hsa050120.30123246
121Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.29893149
122Sulfur metabolism_Homo sapiens_hsa009200.29445096
123Circadian rhythm_Homo sapiens_hsa047100.29229626
124Pyrimidine metabolism_Homo sapiens_hsa002400.28694665
125Rheumatoid arthritis_Homo sapiens_hsa053230.27508127
126Serotonergic synapse_Homo sapiens_hsa047260.27294728
127Salivary secretion_Homo sapiens_hsa049700.27266690
128Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.26840398
129Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.26769620
130Thyroid hormone signaling pathway_Homo sapiens_hsa049190.26415641
131Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.25787718
132Viral carcinogenesis_Homo sapiens_hsa052030.25374734
133Gastric acid secretion_Homo sapiens_hsa049710.25306942
134Inositol phosphate metabolism_Homo sapiens_hsa005620.24943775
135Protein digestion and absorption_Homo sapiens_hsa049740.24763406
136Taste transduction_Homo sapiens_hsa047420.23850802
137Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.23832917
138Synaptic vesicle cycle_Homo sapiens_hsa047210.23545874
139Renin-angiotensin system_Homo sapiens_hsa046140.23502060
140Homologous recombination_Homo sapiens_hsa034400.23232141
141B cell receptor signaling pathway_Homo sapiens_hsa046620.22804677
142N-Glycan biosynthesis_Homo sapiens_hsa005100.22470251
143mTOR signaling pathway_Homo sapiens_hsa041500.22228845
144Alzheimers disease_Homo sapiens_hsa050100.22204188
145Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.21905357
146Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.21424226
147Wnt signaling pathway_Homo sapiens_hsa043100.20774244
148Salmonella infection_Homo sapiens_hsa051320.20096707
149Complement and coagulation cascades_Homo sapiens_hsa046100.19384999
150cAMP signaling pathway_Homo sapiens_hsa040240.18697738
151Sphingolipid metabolism_Homo sapiens_hsa006000.18202116
152Basal cell carcinoma_Homo sapiens_hsa052170.14833122
153HIF-1 signaling pathway_Homo sapiens_hsa040660.14709561
154RNA degradation_Homo sapiens_hsa030180.12329402
155Circadian entrainment_Homo sapiens_hsa047130.11891000
156Cocaine addiction_Homo sapiens_hsa050300.11432012

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