HMX1

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





Description: This gene encodes a transcription factor that belongs to the H6 family of homeobox proteins. This protein can bind a 5'-CAAG-3' core DNA sequence, and it is involved in the development of craniofacial structures. Mutations in this gene cause oculoauricular syndrome, a disorder of the eye and external ear. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1acrosome assembly (GO:0001675)9.23805767
2fusion of sperm to egg plasma membrane (GO:0007342)9.20934124
3acrosome reaction (GO:0007340)9.13858429
4piRNA metabolic process (GO:0034587)8.72828734
5sperm-egg recognition (GO:0035036)8.71418378
6binding of sperm to zona pellucida (GO:0007339)8.40638299
7cell wall macromolecule catabolic process (GO:0016998)8.16502837
8cell wall macromolecule metabolic process (GO:0044036)8.16502837
9lens development in camera-type eye (GO:0002088)7.84426691
10spermatid development (GO:0007286)7.81566198
11outer ear morphogenesis (GO:0042473)7.77441809
12muscle cell fate commitment (GO:0042693)7.68281386
13cell-cell recognition (GO:0009988)7.67407001
14lymph vessel development (GO:0001945)7.65448096
15cilium or flagellum-dependent cell motility (GO:0001539)7.55444808
16axonemal dynein complex assembly (GO:0070286)7.53096514
17synaptonemal complex organization (GO:0070193)7.45480633
18male meiosis (GO:0007140)7.21204575
19synaptonemal complex assembly (GO:0007130)7.13870745
20multicellular organism reproduction (GO:0032504)7.13580294
21motile cilium assembly (GO:0044458)6.95868505
22epithelial cilium movement (GO:0003351)6.88153103
23plasma membrane fusion (GO:0045026)6.84188392
24regulation of cilium movement (GO:0003352)6.29945826
25regulation of cardioblast proliferation (GO:0003264)6.29097810
26regulation of secondary heart field cardioblast proliferation (GO:0003266)6.29097810
27muscle organ morphogenesis (GO:0048644)6.19730421
28reproduction (GO:0000003)6.11151970
29tooth mineralization (GO:0034505)5.91638934
30DNA methylation involved in gamete generation (GO:0043046)5.80868732
31outflow tract septum morphogenesis (GO:0003148)5.80015924
32phenol-containing compound catabolic process (GO:0019336)5.73736777
33negative regulation of inclusion body assembly (GO:0090084)5.72724349
34coronary vasculature morphogenesis (GO:0060977)5.72116714
35cilium movement (GO:0003341)5.64827813
36lens fiber cell development (GO:0070307)5.64440916
37cranial nerve morphogenesis (GO:0021602)5.54727359
38spermatogenesis (GO:0007283)5.52702749
39male gamete generation (GO:0048232)5.50464979
40epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)5.37102764
41regulation of heart morphogenesis (GO:2000826)5.22077463
42lens fiber cell differentiation (GO:0070306)5.16233936
43microtubule depolymerization (GO:0007019)5.12162300
44gamete generation (GO:0007276)5.04885545
45thyroid gland development (GO:0030878)5.00186039
46single fertilization (GO:0007338)4.96982244
47regulation of mammary gland epithelial cell proliferation (GO:0033599)4.95825881
48deoxyribonucleoside monophosphate metabolic process (GO:0009162)4.92754699
49germ cell development (GO:0007281)4.79581218
50regulation of inclusion body assembly (GO:0090083)4.75747420
51sperm capacitation (GO:0048240)4.71878605
52behavioral response to nicotine (GO:0035095)4.71159987
53embryonic viscerocranium morphogenesis (GO:0048703)4.67280809
54fertilization (GO:0009566)4.66550173
55regulation of cardioblast differentiation (GO:0051890)4.65705576
56cellular process involved in reproduction in multicellular organism (GO:0022412)4.64408769
57male meiosis I (GO:0007141)4.64407435
58organic cation transport (GO:0015695)4.60811862
59mammary gland epithelial cell differentiation (GO:0060644)4.60505684
60pharyngeal system development (GO:0060037)4.60033761
61chromosome organization involved in meiosis (GO:0070192)4.59323315
62protein refolding (GO:0042026)4.58996969
63peripheral nervous system neuron development (GO:0048935)4.57112480
64amyloid precursor protein catabolic process (GO:0042987)4.53894756
65dorsal/ventral neural tube patterning (GO:0021904)4.52550744
66peptidyl-arginine omega-N-methylation (GO:0035247)4.44493758
67meiotic nuclear division (GO:0007126)4.41611885
68microtubule severing (GO:0051013)4.41346017
69sequestering of actin monomers (GO:0042989)4.40755012
70sympathetic nervous system development (GO:0048485)4.32144319
71embryonic heart tube development (GO:0035050)4.30712364
72seminiferous tubule development (GO:0072520)4.30334832
73atrial septum morphogenesis (GO:0060413)4.30158706
74chromosome condensation (GO:0030261)4.24689936
75calcium ion-dependent exocytosis (GO:0017156)4.16855380
76spermatid nucleus differentiation (GO:0007289)4.15331291
77negative regulation of cardiac muscle cell apoptotic process (GO:0010667)4.08586841
78ribosomal small subunit biogenesis (GO:0042274)4.07016017
79DNA packaging (GO:0006323)4.06573124
80oxidative phosphorylation (GO:0006119)4.06324672
81ventricular system development (GO:0021591)4.03865535
82heterochromatin organization (GO:0070828)4.02554566
83multicellular organismal reproductive process (GO:0048609)4.00591950
84histone arginine methylation (GO:0034969)3.95044329
85cell recognition (GO:0008037)3.94305121
86regulation of microtubule-based movement (GO:0060632)3.93839712
87ventricular trabecula myocardium morphogenesis (GO:0003222)3.90346591
88embryonic skeletal joint morphogenesis (GO:0060272)3.82994079
89rRNA transcription (GO:0009303)3.81508262
90peptidyl-arginine N-methylation (GO:0035246)3.78261504
91peptidyl-arginine methylation (GO:0018216)3.78261504
92chaperone-mediated protein complex assembly (GO:0051131)3.77784072
93meiosis I (GO:0007127)3.76454924
94UTP biosynthetic process (GO:0006228)3.74814409
95left/right pattern formation (GO:0060972)3.71761156
96negative regulation of DNA repair (GO:0045738)3.70669255
97GTP biosynthetic process (GO:0006183)3.69097801
98cochlea morphogenesis (GO:0090103)3.68884019
99protein localization to cilium (GO:0061512)3.62926089
100regulation of hair follicle development (GO:0051797)3.62240654
101apoptotic process involved in morphogenesis (GO:0060561)3.58383444
102proximal/distal pattern formation (GO:0009954)3.57141463
103neuron fate specification (GO:0048665)3.56104128
104cardiac muscle cell proliferation (GO:0060038)3.48206290
105middle ear morphogenesis (GO:0042474)3.46865229
106regulation of cardiac muscle cell apoptotic process (GO:0010665)3.44910475
107guanosine-containing compound biosynthetic process (GO:1901070)3.42856908
108regulation of mesenchymal cell apoptotic process (GO:2001053)3.41910956
109nucleosome disassembly (GO:0006337)3.40038161
110protein-DNA complex disassembly (GO:0032986)3.40038161
111cardiac ventricle formation (GO:0003211)3.40017900
112pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)3.39974520
113DNA replication checkpoint (GO:0000076)3.39798941
114pyrimidine ribonucleoside triphosphate biosynthetic process (GO:0009209)3.34807464
115gene silencing by RNA (GO:0031047)3.33820491
116kinetochore assembly (GO:0051382)3.33402208
117* multicellular organismal development (GO:0007275)3.31146371
118chromatin assembly (GO:0031497)3.30100899
119regulation of skeletal muscle cell differentiation (GO:2001014)3.29933490
120embryonic skeletal system morphogenesis (GO:0048704)3.29554789
121viral transcription (GO:0019083)3.28794469
122CTP biosynthetic process (GO:0006241)3.28418861
123CTP metabolic process (GO:0046036)3.28418861
124aorta morphogenesis (GO:0035909)3.28303352
125meiotic cell cycle (GO:0051321)3.27060474
126mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)3.27008566
127visual perception (GO:0007601)3.26800991
128UTP metabolic process (GO:0046051)3.25743101
129heart trabecula morphogenesis (GO:0061384)3.24477402
130regulation of meiosis I (GO:0060631)3.23614296
131sensory perception of light stimulus (GO:0050953)3.21881986
132striated muscle cell proliferation (GO:0014855)3.20647343
133cardiac septum morphogenesis (GO:0060411)3.19358879
134pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.18255257
135cardiac chamber formation (GO:0003207)3.17335876
136cell fate specification (GO:0001708)3.14342258
137regulation of striated muscle cell apoptotic process (GO:0010662)3.12929778
138regulation of nuclear cell cycle DNA replication (GO:0033262)3.12882060
139regulation of cell proliferation involved in heart morphogenesis (GO:2000136)3.12411891
140ventricular cardiac muscle cell development (GO:0055015)3.11197432
141negative regulation of mesenchymal cell apoptotic process (GO:2001054)3.10974615
142peptidyl-histidine modification (GO:0018202)3.09453644
143heart trabecula formation (GO:0060347)3.08236192
144positive regulation of muscle cell apoptotic process (GO:0010661)3.05839993
145regulation of branching involved in prostate gland morphogenesis (GO:0060687)3.04430074
146negative regulation of organelle assembly (GO:1902116)3.02203238
147protein polyglutamylation (GO:0018095)3.01580918
148translational termination (GO:0006415)3.01401145
149pyrimidine nucleoside triphosphate metabolic process (GO:0009147)3.01311226
150embryonic body morphogenesis (GO:0010172)3.01057657
151pyrimidine ribonucleoside triphosphate metabolic process (GO:0009208)3.00755286
152positive regulation of hair follicle development (GO:0051798)3.00173868
153positive regulation of hair cycle (GO:0042635)3.00173868
154DNA replication initiation (GO:0006270)2.99875104
155regulation of organ formation (GO:0003156)2.97435699
156negative regulation of striated muscle cell apoptotic process (GO:0010664)2.97151037
157ventricular septum morphogenesis (GO:0060412)2.96634759
158genitalia morphogenesis (GO:0035112)2.95449435
159pentose metabolic process (GO:0019321)2.94991244
160regulation of protein polyubiquitination (GO:1902914)2.89013825
161regulation of spindle checkpoint (GO:0090231)2.88871283
162amyloid precursor protein metabolic process (GO:0042982)2.87811598
163translational elongation (GO:0006414)2.84903369
164embryonic forelimb morphogenesis (GO:0035115)2.84363337
165intraciliary transport (GO:0042073)2.83955315
166maturation of SSU-rRNA (GO:0030490)2.83468425
167apoptotic process involved in development (GO:1902742)2.83325054
168lens morphogenesis in camera-type eye (GO:0002089)2.82544779
169prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060522.81964143
170kinetochore organization (GO:0051383)2.81857909
171regulation of apoptotic process involved in morphogenesis (GO:1902337)2.81744345
172synaptic transmission, cholinergic (GO:0007271)2.81277381
173proline biosynthetic process (GO:0006561)2.80711357
174camera-type eye development (GO:0043010)2.80507236
175axoneme assembly (GO:0035082)2.76820180
176cell migration in hindbrain (GO:0021535)2.76555574
177body morphogenesis (GO:0010171)2.76251314
178positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.76121020
179meiotic cell cycle process (GO:1903046)2.75683289
180neurotransmitter catabolic process (GO:0042135)2.73261881
181metallo-sulfur cluster assembly (GO:0031163)2.72633449
182iron-sulfur cluster assembly (GO:0016226)2.72633449
183regulation of glucocorticoid metabolic process (GO:0031943)2.71452125
184norepinephrine metabolic process (GO:0042415)2.70763825
185heart morphogenesis (GO:0003007)2.69638319
186regulation of chromatin binding (GO:0035561)2.68608401
187negative regulation of microtubule polymerization (GO:0031115)2.66505097
188negative regulation of skeletal muscle tissue development (GO:0048642)2.63341256
189gene silencing (GO:0016458)2.62697888
190positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.61372192
191microtubule-based movement (GO:0007018)2.60730548
192amino-acid betaine transport (GO:0015838)2.59023802
193carnitine transport (GO:0015879)2.59023802
194carnitine transmembrane transport (GO:1902603)2.58105253
195microtubule polymerization or depolymerization (GO:0031109)2.57889452
196limb development (GO:0060173)2.57079256
197appendage development (GO:0048736)2.57079256
198DNA replication-dependent nucleosome organization (GO:0034723)2.55554443
199DNA replication-dependent nucleosome assembly (GO:0006335)2.55554443
200sperm motility (GO:0030317)10.2800647

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse9.54725249
2EZH2_22144423_ChIP-Seq_EOC_Human6.28193662
3BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse5.28802730
4FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.40494354
5HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.19272874
6TP63_19390658_ChIP-ChIP_HaCaT_Human2.89922739
7MYC_18555785_ChIP-Seq_MESCs_Mouse2.85977151
8EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.82985363
9XRN2_22483619_ChIP-Seq_HELA_Human2.70233410
10E2F7_22180533_ChIP-Seq_HELA_Human2.67697636
11THAP11_20581084_ChIP-Seq_MESCs_Mouse2.60155481
12TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.39912345
13RBPJ_22232070_ChIP-Seq_NCS_Mouse2.35224284
14STAT6_21828071_ChIP-Seq_BEAS2B_Human2.32354486
15MYC_18358816_ChIP-ChIP_MESCs_Mouse2.26639476
16JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.17353323
17CREM_20920259_ChIP-Seq_GC1-SPG_Mouse2.15253370
18* PHC1_16625203_ChIP-ChIP_MESCs_Mouse2.12528750
19* TP53_20018659_ChIP-ChIP_R1E_Mouse2.11881891
20* EZH2_27304074_Chip-Seq_ESCs_Mouse2.10965791
21VDR_21846776_ChIP-Seq_THP-1_Human2.07804627
22LXR_22292898_ChIP-Seq_THP-1_Human2.07287401
23ZNF274_21170338_ChIP-Seq_K562_Hela2.04737382
24CCND1_20090754_ChIP-ChIP_RETINA_Mouse2.01228266
25* EED_16625203_ChIP-ChIP_MESCs_Mouse1.95118656
26DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.94910445
27TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.92420580
28GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.92295986
29KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.91593866
30FOXM1_23109430_ChIP-Seq_U2OS_Human1.91207804
31* JARID2_20075857_ChIP-Seq_MESCs_Mouse1.91028000
32* MYC_19030024_ChIP-ChIP_MESCs_Mouse1.86684689
33ETS1_20019798_ChIP-Seq_JURKAT_Human1.83376740
34* JARID2_20064375_ChIP-Seq_MESCs_Mouse1.78309600
35ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.75626676
36TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.75475463
37* RNF2_18974828_ChIP-Seq_MESCs_Mouse1.71442746
38* EZH2_18974828_ChIP-Seq_MESCs_Mouse1.71442746
39NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.70468258
40DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.69384519
41MYC_22102868_ChIP-Seq_BL_Human1.69108314
42MYC_19079543_ChIP-ChIP_MESCs_Mouse1.68698838
43ERG_21242973_ChIP-ChIP_JURKAT_Human1.67135997
44NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.66842592
45GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.65692724
46GATA1_26923725_Chip-Seq_HPCs_Mouse1.62837925
47ELK4_26923725_Chip-Seq_MESODERM_Mouse1.62502866
48CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.62232947
49PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.61972398
50TTF2_22483619_ChIP-Seq_HELA_Human1.61472936
51VDR_22108803_ChIP-Seq_LS180_Human1.55371428
52ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.54736096
53SOX2_22085726_ChIP-Seq_NPCs_Mouse1.53066846
54GABP_19822575_ChIP-Seq_HepG2_Human1.51118294
55SA1_27219007_Chip-Seq_ERYTHROID_Human1.48582864
56ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.47962712
57FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.45172154
58CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.45148024
59KDM2B_26808549_Chip-Seq_K562_Human1.44174644
60RACK7_27058665_Chip-Seq_MCF-7_Human1.42771245
61ZFX_18555785_ChIP-Seq_MESCs_Mouse1.42635310
62KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.41908095
63CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.41214236
64YY1_21170310_ChIP-Seq_MESCs_Mouse1.39471116
65CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.38638757
66RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.38185285
67CREB1_15753290_ChIP-ChIP_HEK293T_Human1.37251594
68REST_21632747_ChIP-Seq_MESCs_Mouse1.37061812
69ELK3_25401928_ChIP-Seq_HUVEC_Human1.37045334
70DCP1A_22483619_ChIP-Seq_HELA_Human1.36409925
71SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.35336896
72POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.35151769
73KDM5A_27292631_Chip-Seq_BREAST_Human1.35072207
74ZNF263_19887448_ChIP-Seq_K562_Human1.34172968
75YY1_22570637_ChIP-Seq_MALME-3M_Human1.34139865
76* CTCF_27219007_Chip-Seq_Bcells_Human1.33853693
77SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.32638550
78FOXP1_21924763_ChIP-Seq_HESCs_Human1.26732126
79KDM2B_26808549_Chip-Seq_SUP-B15_Human1.26532461
80* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.25782397
81MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.25730288
82CTCF_27219007_Chip-Seq_ERYTHROID_Human1.25725746
83* RING1B_27294783_Chip-Seq_NPCs_Mouse1.25220315
84* CBX2_27304074_Chip-Seq_ESCs_Mouse1.25150731
85SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.25003969
86E2F1_18555785_ChIP-Seq_MESCs_Mouse1.24897086
87WDR5_24793694_ChIP-Seq_LNCAP_Human1.23884047
88NANOG_18555785_ChIP-Seq_MESCs_Mouse1.23778016
89* RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.23015325
90PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.22402941
91* SUZ12_27294783_Chip-Seq_ESCs_Mouse1.20387695
92CTCF_26484167_Chip-Seq_Bcells_Mouse1.20180935
93MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.19432846
94THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.19245411
95* FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.18201521
96* FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.16960700
97MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.16813796
98KDM2B_26808549_Chip-Seq_DND41_Human1.16425382
99RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.16002981
100E2F1_21310950_ChIP-Seq_MCF-7_Human1.15561698
101E2F4_17652178_ChIP-ChIP_JURKAT_Human1.15164920
102TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.14575837
103* STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.14316461
104CREB1_26743006_Chip-Seq_LNCaP_Human1.14000433
105BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.13373447
106UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.13126092
107ESR1_15608294_ChIP-ChIP_MCF-7_Human1.12961784
108E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.11616646
109MYC_27129775_Chip-Seq_CORNEA_Mouse1.10952492
110EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.10829573
111MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.10710057
112* EZH2_27294783_Chip-Seq_ESCs_Mouse1.10254305
113SETDB1_19884255_ChIP-Seq_MESCs_Mouse1.09937360
114CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.09862237
115POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.09231071
116KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.08982212
117KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.08982212
118KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.08982212
119PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.08407501
120EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.07795573
121CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.07303806
122STAT1_17558387_ChIP-Seq_HELA_Human1.06571410
123KLF4_18555785_ChIP-Seq_MESCs_Mouse1.06569446
124EST1_17652178_ChIP-ChIP_JURKAT_Human1.05717003
125TET1_21451524_ChIP-Seq_MESCs_Mouse1.04011812
126KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.03669289
127GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse1.02816878
128CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.02545283
129* SETDB1_19884257_ChIP-Seq_MESCs_Mouse1.02284630
130ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.01934603
131OCT4_19829295_ChIP-Seq_ESCs_Human1.01080627
132SMAD3_21741376_ChIP-Seq_ESCs_Human1.00574311
133CTCF_20526341_ChIP-Seq_ESCs_Human1.00333754
134RNF2_27304074_Chip-Seq_NSC_Mouse0.98678518
135P53_21459846_ChIP-Seq_SAOS-2_Human0.97444965
136BCOR_27268052_Chip-Seq_Bcells_Human0.96637538
137SMC4_20622854_ChIP-Seq_HELA_Human0.96246675
138* IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.95974170
139* CBP_20019798_ChIP-Seq_JUKART_Human0.95974170
140ELF1_20517297_ChIP-Seq_JURKAT_Human0.95881273
141RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.94737394
142* RNF2_27304074_Chip-Seq_ESCs_Mouse0.94668117
143GATA3_21867929_ChIP-Seq_CD8_Mouse0.93632489
144* SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.93532961
145KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.93433457
146NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.92734461
147PHF8_20622854_ChIP-Seq_HELA_Human0.92667091
148GF1_26923725_Chip-Seq_HPCs_Mouse0.91169540
149RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.91002757
150CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.90759048
151SOX2_18555785_ChIP-Seq_MESCs_Mouse0.90216825
152ERG_20517297_ChIP-Seq_VCAP_Human0.89603718
153E2F1_20622854_ChIP-Seq_HELA_Human0.89361816
154PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.88602177
155* RING1B_27294783_Chip-Seq_ESCs_Mouse0.86568344
156SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.86494187
157* REST_18959480_ChIP-ChIP_MESCs_Mouse0.86141249
158EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.86069022
159EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.85658907
160GATA1_19941827_ChIP-Seq_MEL86_Mouse0.85155602
161NFIB_24661679_ChIP-Seq_LUNG_Mouse0.85066783
162* PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.84920944
163* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.84027983
164SMC3_22415368_ChIP-Seq_MEFs_Mouse0.83841054
165SRY_22984422_ChIP-ChIP_TESTIS_Rat0.82784596
166CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.82558793
167RAD21_21589869_ChIP-Seq_MESCs_Mouse0.82546436
168RARA_24833708_ChIP-Seq_LIVER_Mouse0.81868670
169CTBP2_25329375_ChIP-Seq_LNCAP_Human0.81861814
170CTCF_18555785_ChIP-Seq_MESCs_Mouse0.81530562
171P68_20966046_ChIP-Seq_HELA_Human0.81259713
172JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse0.79617163
173FLI1_27457419_Chip-Seq_LIVER_Mouse0.79236762
174* BMI1_23680149_ChIP-Seq_NPCS_Mouse0.77326564
175SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.77204316
176LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse0.77142072
177LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.76992798
178SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.76332636

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1* MP0002697_abnormal_eye_size5.02938969
2MP0001346_abnormal_lacrimal_gland5.00525290
3MP0002249_abnormal_larynx_morphology4.86896259
4MP0000678_abnormal_parathyroid_gland4.11228022
5MP0003698_abnormal_male_reproductive4.04368871
6MP0002822_catalepsy3.96673459
7MP0001929_abnormal_gametogenesis3.76705354
8MP0008877_abnormal_DNA_methylation3.45028550
9MP0002638_abnormal_pupillary_reflex3.20201069
10MP0005253_abnormal_eye_physiology3.17877543
11MP0005193_abnormal_anterior_eye3.11111023
12MP0002653_abnormal_ependyma_morphology2.92916038
13* MP0000049_abnormal_middle_ear2.57468991
14MP0002210_abnormal_sex_determination2.55636812
15MP0006072_abnormal_retinal_apoptosis2.44377032
16MP0003693_abnormal_embryo_hatching2.27982042
17MP0002161_abnormal_fertility/fecundity2.24169231
18MP0005391_vision/eye_phenotype2.22683386
19MP0002160_abnormal_reproductive_system2.17691584
20MP0001145_abnormal_male_reproductive2.15826504
21MP0000681_abnormal_thyroid_gland2.13902134
22MP0000733_abnormal_muscle_development2.13638333
23MP0001188_hyperpigmentation2.05351982
24MP0005197_abnormal_uvea_morphology2.02046933
25MP0003011_delayed_dark_adaptation2.01849380
26MP0005410_abnormal_fertilization10.0194528
27MP0005551_abnormal_eye_electrophysiolog1.96433310
28MP0003111_abnormal_nucleus_morphology1.95081085
29MP0002877_abnormal_melanocyte_morpholog1.87978910
30MP0000653_abnormal_sex_gland1.86918429
31MP0002092_abnormal_eye_morphology1.86180813
32MP0010386_abnormal_urinary_bladder1.78326126
33MP0003077_abnormal_cell_cycle1.77855733
34MP0001286_abnormal_eye_development1.74576874
35MP0005623_abnormal_meninges_morphology1.69771838
36MP0004957_abnormal_blastocyst_morpholog1.64727622
37MP0004858_abnormal_nervous_system1.63435918
38MP0005367_renal/urinary_system_phenotyp1.63000043
39MP0000516_abnormal_urinary_system1.63000043
40MP0001270_distended_abdomen1.60531370
41MP0005195_abnormal_posterior_eye1.59315062
42MP0003315_abnormal_perineum_morphology1.58612199
43MP0002932_abnormal_joint_morphology1.53802323
44MP0001502_abnormal_circadian_rhythm1.49203948
45MP0008789_abnormal_olfactory_epithelium1.48492354
46MP0003937_abnormal_limbs/digits/tail_de1.48279309
47MP0000762_abnormal_tongue_morphology1.45785171
48MP0004185_abnormal_adipocyte_glucose1.41826642
49MP0001919_abnormal_reproductive_system1.38235693
50MP0004270_analgesia1.36996578
51MP0010094_abnormal_chromosome_stability1.34747029
52MP0005379_endocrine/exocrine_gland_phen1.33984375
53MP0001879_abnormal_lymphatic_vessel1.33409519
54MP0005499_abnormal_olfactory_system1.31501455
55MP0005394_taste/olfaction_phenotype1.31501455
56MP0002751_abnormal_autonomic_nervous1.29525299
57MP0004233_abnormal_muscle_weight1.26294990
58MP0006276_abnormal_autonomic_nervous1.23198159
59MP0003935_abnormal_craniofacial_develop1.23015830
60MP0006292_abnormal_olfactory_placode1.21470798
61MP0001905_abnormal_dopamine_level1.18974006
62MP0001324_abnormal_eye_pigmentation1.17586178
63MP0003942_abnormal_urinary_system1.16681454
64MP0003938_abnormal_ear_development1.14827733
65MP0001293_anophthalmia1.10577723
66MP0009333_abnormal_splenocyte_physiolog1.08830370
67MP0000350_abnormal_cell_proliferation1.07874953
68MP0002277_abnormal_respiratory_mucosa1.07657822
69MP0003755_abnormal_palate_morphology1.04693199
70MP0002085_abnormal_embryonic_tissue0.99946045
71MP0002282_abnormal_trachea_morphology0.98696942
72MP0000534_abnormal_ureter_morphology0.98129347
73MP0002114_abnormal_axial_skeleton0.97189699
74MP0000778_abnormal_nervous_system0.96851740
75MP0003567_abnormal_fetal_cardiomyocyte0.96811436
76MP0005389_reproductive_system_phenotype0.94507387
77MP0002734_abnormal_mechanical_nocicepti0.91811944
78MP0005076_abnormal_cell_differentiation0.89657108
79MP0000537_abnormal_urethra_morphology0.88893462
80MP0001340_abnormal_eyelid_morphology0.88843627
81MP0009053_abnormal_anal_canal0.88831611
82MP0003786_premature_aging0.88429327
83* MP0002116_abnormal_craniofacial_bone0.87182789
84MP0003115_abnormal_respiratory_system0.86946788
85MP0002752_abnormal_somatic_nervous0.86946754
86MP0000462_abnormal_digestive_system0.86831248
87MP0005187_abnormal_penis_morphology0.86564457
88MP0001984_abnormal_olfaction0.84428918
89MP0002090_abnormal_vision0.84372784
90MP0008058_abnormal_DNA_repair0.83966768
91* MP0003861_abnormal_nervous_system0.83694666
92MP0005380_embryogenesis_phenotype0.83518360
93MP0001672_abnormal_embryogenesis/_devel0.83518360
94MP0002111_abnormal_tail_morphology0.83350195
95MP0000749_muscle_degeneration0.82937069
96MP0003283_abnormal_digestive_organ0.82777226
97MP0008995_early_reproductive_senescence0.82593046
98MP0000538_abnormal_urinary_bladder0.82033745
99MP0000003_abnormal_adipose_tissue0.81757150
100MP0002127_abnormal_cardiovascular_syste0.81244754
101MP0001440_abnormal_grooming_behavior0.80483082
102* MP0002152_abnormal_brain_morphology0.77549145
103MP0001697_abnormal_embryo_size0.77090485
104MP0005257_abnormal_intraocular_pressure0.76974667
105MP0004272_abnormal_basement_membrane0.76863204
106MP0003137_abnormal_impulse_conducting0.76090818
107* MP0002177_abnormal_outer_ear0.75128758
108MP0005501_abnormal_skin_physiology0.74550325
109MP0002882_abnormal_neuron_morphology0.73678006
110MP0002102_abnormal_ear_morphology0.73007802
111MP0004811_abnormal_neuron_physiology0.72807182
112MP0000313_abnormal_cell_death0.69796791
113MP0003984_embryonic_growth_retardation0.69378226
114MP0002098_abnormal_vibrissa_morphology0.69259877
115MP0001529_abnormal_vocalization0.69181770
116MP0000955_abnormal_spinal_cord0.68252465
117MP0005646_abnormal_pituitary_gland0.67830761
118MP0005670_abnormal_white_adipose0.67613923
119MP0009250_abnormal_appendicular_skeleto0.67215561
120MP0003123_paternal_imprinting0.66379823
121MP0005451_abnormal_body_composition0.65465988
122MP0003385_abnormal_body_wall0.65395115
123* MP0002081_perinatal_lethality0.64680713
124MP0002088_abnormal_embryonic_growth/wei0.64048175
125MP0001661_extended_life_span0.63456801
126MP0005666_abnormal_adipose_tissue0.63199933
127MP0002733_abnormal_thermal_nociception0.61589980
128MP0002269_muscular_atrophy0.60983915
129MP0003878_abnormal_ear_physiology0.60716487
130MP0005377_hearing/vestibular/ear_phenot0.60716487
131MP0004782_abnormal_surfactant_physiolog0.60454704
132MP0008007_abnormal_cellular_replicative0.59047760
133MP0000372_irregular_coat_pigmentation0.58894556
134MP0003705_abnormal_hypodermis_morpholog0.57645478
135MP0002163_abnormal_gland_morphology0.57242987
136MP0002184_abnormal_innervation0.57238973
137MP0002234_abnormal_pharynx_morphology0.54812918
138MP0002108_abnormal_muscle_morphology0.54396070
139MP0008872_abnormal_physiological_respon0.54322577
140MP0003646_muscle_fatigue0.54017803
141MP0002229_neurodegeneration0.52381745
142MP0001730_embryonic_growth_arrest0.51177794
143MP0000631_abnormal_neuroendocrine_gland0.50831585
144MP0002084_abnormal_developmental_patter0.50566352
145MP0002233_abnormal_nose_morphology0.50102626
146MP0000428_abnormal_craniofacial_morphol0.50029154
147MP0003329_amyloid_beta_deposits0.46799884
148MP0001970_abnormal_pain_threshold0.46793129
149MP0004197_abnormal_fetal_growth/weight/0.46199960
150MP0005647_abnormal_sex_gland0.45036443
151MP0008932_abnormal_embryonic_tissue0.44823780
152MP0003635_abnormal_synaptic_transmissio0.44159752
153MP0010030_abnormal_orbit_morphology0.43032358
154MP0003787_abnormal_imprinting0.42818717
155MP0010307_abnormal_tumor_latency0.42678937
156MP0003119_abnormal_digestive_system0.41534631
157MP0002557_abnormal_social/conspecific_i0.41064735

Predicted human phenotypes

RankGene SetZ-score
1Double outlet right ventricle (HP:0001719)9.14197058
2Congenital malformation of the right heart (HP:0011723)9.14197058
3Respiratory insufficiency due to defective ciliary clearance (HP:0200073)8.32103907
4Dynein arm defect of respiratory motile cilia (HP:0012255)7.92227770
5Absent/shortened dynein arms (HP:0200106)7.92227770
6Abnormal respiratory motile cilium physiology (HP:0012261)5.79831607
7Abnormal ventriculo-arterial connection (HP:0011563)5.63080045
8Transposition of the great arteries (HP:0001669)5.63080045
9Abnormal connection of the cardiac segments (HP:0011545)5.63080045
10Abnormal respiratory motile cilium morphology (HP:0005938)5.58470039
11Abnormal respiratory epithelium morphology (HP:0012253)5.58470039
12Abnormality of the aortic arch (HP:0012303)5.39864196
13Amblyopia (HP:0000646)5.31275192
14Truncus arteriosus (HP:0001660)5.25310340
15Hypoplastic left heart (HP:0004383)5.05652059
16Rhinitis (HP:0012384)4.95659588
17Periauricular skin pits (HP:0100277)4.83929576
18Preauricular pit (HP:0004467)4.83929576
19Chronic bronchitis (HP:0004469)4.68135551
20Infertility (HP:0000789)4.54583073
21Unilateral renal agenesis (HP:0000122)4.46788120
22Congenital cataract (HP:0000519)4.41688704
23Abnormality of the parathyroid morphology (HP:0011766)4.32546888
24Broad distal phalanx of finger (HP:0009836)4.13052558
25Abnormal ciliary motility (HP:0012262)4.11388591
26Hyperthyroidism (HP:0000836)3.96320442
27Hypoplastic heart (HP:0001961)3.96235802
28Aplasia/Hypoplasia of the sacrum (HP:0008517)3.95222595
29Abnormal umbilical cord blood vessels (HP:0011403)3.90292830
30Single umbilical artery (HP:0001195)3.90292830
31Abnormality of the fetal cardiovascular system (HP:0010948)3.90292830
32Anterior segment dysgenesis (HP:0007700)3.80913285
33Abnormality of the phalanges of the hallux (HP:0010057)3.74760892
34Corneal dystrophy (HP:0001131)3.67548562
35Nasal polyposis (HP:0100582)3.59834464
36Pendular nystagmus (HP:0012043)3.57954245
37Abnormality of chromosome segregation (HP:0002916)3.35065019
38Impulsivity (HP:0100710)3.34220560
39Skin pits (HP:0100276)3.30350104
40Nephronophthisis (HP:0000090)3.23152735
41Hypothermia (HP:0002045)3.19641564
42Birth length less than 3rd percentile (HP:0003561)3.15337581
43Septate vagina (HP:0001153)3.01403308
44Abnormality of the lower motor neuron (HP:0002366)2.86689594
45Short middle phalanx of the 5th finger (HP:0004220)2.85321106
46Polar cataract (HP:0010696)2.85041246
47Abnormality of the nasal mucosa (HP:0000433)2.80820900
48Microretrognathia (HP:0000308)2.75924846
49Breast hypoplasia (HP:0003187)2.75125118
50Pulmonary artery stenosis (HP:0004415)2.71839450
51Posterior subcapsular cataract (HP:0007787)2.65464436
52Abnormality of the umbilical cord (HP:0010881)2.65146327
53Esophageal atresia (HP:0002032)2.64676872
54Buphthalmos (HP:0000557)2.62431853
55Orthostatic hypotension (HP:0001278)2.61595002
56Stridor (HP:0010307)2.55718773
57* Microcornea (HP:0000482)2.54318202
58Abnormal number of incisors (HP:0011064)2.51849540
59Rectal prolapse (HP:0002035)2.50458083
60Male infertility (HP:0003251)2.48647405
61Abnormality of the 4th metacarpal (HP:0010012)2.47002270
62Severe visual impairment (HP:0001141)2.44458146
63Bronchiectasis (HP:0002110)2.44174756
64Abnormality of the distal phalanges of the toes (HP:0010182)2.42855680
65Tetany (HP:0001281)2.41587776
66Ulnar bowing (HP:0003031)2.38797882
67Clumsiness (HP:0002312)2.37521689
68Iris coloboma (HP:0000612)2.33825409
69Subaortic stenosis (HP:0001682)2.31824864
70Abnormality of the left ventricular outflow tract (HP:0011103)2.31824864
71Short clavicles (HP:0000894)2.31360104
72Bronchitis (HP:0012387)2.29646785
73Neonatal hypoglycemia (HP:0001998)2.28705081
74Rectovaginal fistula (HP:0000143)2.28240150
75Rectal fistula (HP:0100590)2.28240150
76Congenital primary aphakia (HP:0007707)2.26410436
77Dyschromatopsia (HP:0007641)2.26387209
78Posterior embryotoxon (HP:0000627)2.25470469
79Abnormality of the renal medulla (HP:0100957)2.25291840
80Abnormality of the parietal bone (HP:0002696)2.19759351
81Intestinal fistula (HP:0100819)2.16984536
82* Sclerocornea (HP:0000647)2.13431042
83Absent rod-and cone-mediated responses on ERG (HP:0007688)2.12663228
84Partial duplication of the phalanx of hand (HP:0009999)2.10905628
85Abnormality of the anterior chamber (HP:0000593)2.10761879
86Down-sloping shoulders (HP:0200021)2.08964022
87Abnormality of the line of Schwalbe (HP:0008048)2.08679435
88Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)2.07553874
89Neoplasm of the adrenal cortex (HP:0100641)2.07398204
90Aplasia/Hypoplasia of the clavicles (HP:0006710)2.07000488
91Atelectasis (HP:0100750)2.06601296
92Selective tooth agenesis (HP:0001592)2.06049630
93Short palpebral fissure (HP:0012745)2.05843085
94Overfolded helix (HP:0000396)2.04015801
95Hypertensive crisis (HP:0100735)2.03272680
96Abnormally folded helix (HP:0008544)2.02664179
97Vaginal fistula (HP:0004320)2.01236778
98Recurrent bacterial skin infections (HP:0005406)2.00391739
99Nuclear cataract (HP:0100018)15.3209406
100Zonular cataract (HP:0010920)14.3222654
101Renal agenesis (HP:0000104)1.99993275
102Bony spicule pigmentary retinopathy (HP:0007737)1.99090018
103Seborrheic dermatitis (HP:0001051)1.96711854
104Hypoparathyroidism (HP:0000829)1.96192968
105Abnormality of the distal phalanx of the thumb (HP:0009617)1.95625684
106Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)1.95447450
107Hemorrhage of the eye (HP:0011885)1.94990962
108Abnormality of midbrain morphology (HP:0002418)1.94857549
109Molar tooth sign on MRI (HP:0002419)1.94857549
110Abnormality of the tricuspid valve (HP:0001702)1.94617830
111Amyotrophic lateral sclerosis (HP:0007354)1.92757256
112Exotropia (HP:0000577)1.92201557
113Subcapsular cataract (HP:0000523)1.92117555
114Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.91508780
115Decreased activity of mitochondrial respiratory chain (HP:0008972)1.91508780
116Abnormal autonomic nervous system physiology (HP:0012332)1.90436572
117Short 5th finger (HP:0009237)1.90374914
118Maternal diabetes (HP:0009800)1.89133172
119Optic nerve coloboma (HP:0000588)1.87256927
120Decreased central vision (HP:0007663)1.86913328
121Redundant skin (HP:0001582)1.86773887
122Bifid scrotum (HP:0000048)1.86482351
123Self-mutilation (HP:0000742)1.86110273
124Gonadotropin excess (HP:0000837)1.84770578
125High anterior hairline (HP:0009890)1.84442539
126Recurrent otitis media (HP:0000403)1.84044357
127Abnormal spermatogenesis (HP:0008669)1.79609535
128Atresia of the external auditory canal (HP:0000413)1.78544044
129Abnormal large intestine physiology (HP:0012700)1.78180753
130Tubular atrophy (HP:0000092)1.77950035
131Medial flaring of the eyebrow (HP:0010747)1.75776071
132Bowel incontinence (HP:0002607)1.73191321
133Tubulointerstitial abnormality (HP:0001969)1.73052472
134Occipital encephalocele (HP:0002085)1.71158209
135Abnormality of the gallbladder (HP:0005264)1.69664809
136Aplasia/Hypoplasia of the 5th finger (HP:0006262)1.69618854
137Anal atresia (HP:0002023)1.69186580
138Chorioretinal atrophy (HP:0000533)1.69033137
139Aplastic anemia (HP:0001915)1.68899441
140Tubulointerstitial fibrosis (HP:0005576)1.68572081
141Fibular hypoplasia (HP:0003038)1.68399404
142Abolished electroretinogram (ERG) (HP:0000550)1.68245179
143Absent radius (HP:0003974)1.68077737
144Abnormality of the astrocytes (HP:0100707)1.67468753
145Astrocytoma (HP:0009592)1.67468753
146Patellar dislocation (HP:0002999)1.67356795
147Nasal speech (HP:0001611)1.66260292
148Myokymia (HP:0002411)1.66181725
149Abnormality of the columella (HP:0009929)1.65997455
150Abnormality of the middle phalanx of the 5th finger (HP:0004219)1.64763097
151Congenital glaucoma (HP:0001087)1.64662942
152Abnormality of dentin (HP:0010299)1.63874226
153Choroideremia (HP:0001139)1.60335705
154Abnormal rod and cone electroretinograms (HP:0008323)1.58984381
155Cutaneous melanoma (HP:0012056)1.58717974
156Delusions (HP:0000746)1.58696974
157Abnormality of the phalanges of the 5th finger (HP:0004213)1.57442646
158Abnormality of the middle phalanges of the toes (HP:0010183)1.57043790
159Microglossia (HP:0000171)1.56920029
160* Aplasia/Hypoplasia of the lens (HP:0008063)1.56812407
161Cholecystitis (HP:0001082)1.55571857
162Abnormal gallbladder physiology (HP:0012438)1.55571857
163Tetralogy of Fallot (HP:0001636)1.54978471
164Aplasia involving forearm bones (HP:0009822)1.54939386
165Absent forearm bone (HP:0003953)1.54939386
166Central scotoma (HP:0000603)1.51929961
167Tubulointerstitial nephritis (HP:0001970)1.49797589
168Postaxial foot polydactyly (HP:0001830)1.49776048
169Type II diabetes mellitus (HP:0005978)1.49588151
170Renal dysplasia (HP:0000110)1.48862750
171Impaired proprioception (HP:0010831)1.41586114
172Recurrent sinusitis (HP:0011108)1.41426461
173Stage 5 chronic kidney disease (HP:0003774)1.38788790
174Constricted visual fields (HP:0001133)1.38209239
175Scotoma (HP:0000575)1.37571881
176Heterotopia (HP:0002282)1.37451149
177Cone-rod dystrophy (HP:0000548)1.36097508
178Short ribs (HP:0000773)1.35970238
179Retinal atrophy (HP:0001105)1.32719363
180Hypoplasia of the capital femoral epiphysis (HP:0003090)1.32592487
181Bell-shaped thorax (HP:0001591)1.32428859
182Aplasia/Hypoplasia of the fibula (HP:0006492)1.31623844
183Hypoplasia of the brainstem (HP:0002365)1.31361589
184Aplasia/Hypoplasia of the brainstem (HP:0007362)1.31361589
185Postaxial hand polydactyly (HP:0001162)1.30212717
186Attenuation of retinal blood vessels (HP:0007843)1.27723903
187Aplasia/Hypoplasia of the tongue (HP:0010295)1.27121620
188Macular degeneration (HP:0000608)1.26224324
189Asymmetry of the thorax (HP:0001555)1.25169165
190Oculomotor apraxia (HP:0000657)1.24712797
191Azoospermia (HP:0000027)1.24696492
192Congenital hepatic fibrosis (HP:0002612)1.23905629
193Hemiparesis (HP:0001269)1.23243533
194Median cleft lip (HP:0000161)1.22509519
195Difficulty walking (HP:0002355)1.21766200
196Hyporeflexia of lower limbs (HP:0002600)1.20873059
197Hand muscle atrophy (HP:0009130)1.20397217

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PDK36.40765122
2PDK46.40765122
3TESK16.19717401
4SMG15.93709294
5VRK25.08026695
6PRKD34.42166336
7ICK4.34558854
8TAF14.14049707
9PDK23.85650355
10NME23.53098990
11STK163.02589794
12IRAK32.80894763
13NTRK12.69835229
14DYRK1B2.38725790
15PNCK2.24530782
16WNK42.21423333
17CSNK1A1L2.20924502
18PTK2B2.10804749
19KDR2.03110710
20STK392.02472603
21NEK21.93721064
22CSNK1G11.93258296
23TLK11.83841856
24VRK11.68467599
25STK381.47825372
26NUAK11.42502436
27BRSK11.41949812
28WNK11.35771400
29MAP2K61.33927507
30CDK71.32540264
31MAP3K101.27125467
32MATK1.24741909
33BCKDK1.22120013
34CDK81.14110887
35NTRK21.12079909
36DAPK11.08659234
37TYRO31.07170067
38EPHB21.01104092
39CDC71.00963785
40MAPK111.00469187
41CDK90.98178813
42GRK70.97704434
43ILK0.96245304
44EEF2K0.92566850
45CAMK1D0.90863392
46TAOK20.85255022
47ZAK0.80766320
48RPS6KA50.79067447
49MAP3K40.78912166
50CAMK1G0.77001385
51PASK0.76980364
52AKT20.73798698
53TRIB30.73618311
54ABL20.71405958
55AKT30.71343764
56MELK0.71257000
57IRAK40.70551967
58NME10.68930160
59DYRK30.68382888
60CDK40.67092975
61GRK50.65270422
62MKNK20.61024612
63MAP2K70.60646397
64HIPK20.59636363
65PDK10.57856886
66SGK2230.56985114
67SGK4940.56985114
68MAP3K80.56610596
69ERBB20.55893756
70PKN20.54762324
71BRD40.54639984
72ADRBK10.53024489
73MAP3K110.52954431
74RPS6KC10.51177802
75RPS6KL10.51177802
76IRAK10.50738544
77LIMK10.49390998
78SGK10.49228055
79MAPKAPK50.48844394
80LATS20.46914661
81CHEK20.46361776
82TESK20.46259875
83UHMK10.46195860
84AURKB0.45509502
85LRRK20.45324054
86DYRK1A0.45054119
87CAMKK20.44189243
88MAP3K10.43003169
89CDK20.42929232
90MAP2K30.42914400
91BUB10.42721128
92STK30.42684252
93PINK10.41979617
94RPS6KB20.41863230
95PRKCG0.40717344
96RPS6KA60.40359681
97MTOR0.39326082
98PRKCI0.38967289
99BRAF0.37731136
100EIF2AK20.36832570
101RPS6KA20.36807378
102CHEK10.36694482
103SRPK10.36682258
104CAMKK10.36565877
105MINK10.36100224
106ACVR1B0.35949949
107PIM10.35732824
108PRKCB0.33514476
109GSK3A0.33369486
110IRAK20.33060903
111CDK150.32007827
112CDK140.30337364
113PLK40.29624133
114CSNK2A10.29602557
115DAPK30.29529563
116PLK10.29282775
117MAP2K20.29119762
118WEE10.28813435
119CDK180.28594947
120STK40.28359873
121PRKAA10.28242160
122DYRK20.28188035
123PIM20.27962469
124CDK11A0.27424814
125PRKG10.27237234
126PAK10.27063959
127PDPK10.26569188
128DDR20.25947228
129CSNK1G30.25888450
130PLK30.25681174
131ARAF0.25082207
132CSNK1E0.24873227
133TAOK10.24749501
134PAK20.24537865
135LMTK20.23788250
136CSNK2A20.23488471
137AURKA0.22789497
138RPS6KB10.22659331
139PRPF4B0.22261454
140CSNK1G20.22238451
141ATR0.21913723
142MUSK0.21852909
143TTK0.21099990
144STK110.21080427
145PRKCZ0.20806861
146MKNK10.20345930
147SIK10.19948697
148PAK60.19806803
149PAK40.19751115
150ATM0.19531808
151CDK60.19376854
152CDK10.19052921
153PDGFRA0.17484811
154RPS6KA10.16640778
155CDK120.16531492
156MAPK80.16493450

Predicted pathways (KEGG)

RankGene SetZ-score
1Sulfur relay system_Homo sapiens_hsa041226.69409836
2Ribosome_Homo sapiens_hsa030104.12821553
3DNA replication_Homo sapiens_hsa030303.45704858
4Glycolysis / Gluconeogenesis_Homo sapiens_hsa000103.04023503
5Systemic lupus erythematosus_Homo sapiens_hsa053222.90129043
6Alcoholism_Homo sapiens_hsa050342.82771930
7Base excision repair_Homo sapiens_hsa034102.71799817
8Pyruvate metabolism_Homo sapiens_hsa006202.53359996
9Phototransduction_Homo sapiens_hsa047442.48529254
10Fatty acid biosynthesis_Homo sapiens_hsa000612.45694517
11Glucagon signaling pathway_Homo sapiens_hsa049222.31841421
12Amphetamine addiction_Homo sapiens_hsa050312.31437345
13Notch signaling pathway_Homo sapiens_hsa043302.20142273
14Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.16317225
15Mismatch repair_Homo sapiens_hsa034302.13063263
16Pyrimidine metabolism_Homo sapiens_hsa002402.11154108
17Vasopressin-regulated water reabsorption_Homo sapiens_hsa049622.07461942
18Oocyte meiosis_Homo sapiens_hsa041141.97793659
19Spliceosome_Homo sapiens_hsa030401.96929676
20Phenylalanine metabolism_Homo sapiens_hsa003601.89636712
21Tyrosine metabolism_Homo sapiens_hsa003501.88402528
22alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.87104273
23Basal transcription factors_Homo sapiens_hsa030221.87012535
24Linoleic acid metabolism_Homo sapiens_hsa005911.86976433
25Synaptic vesicle cycle_Homo sapiens_hsa047211.85130142
26Sulfur metabolism_Homo sapiens_hsa009201.85085653
27Dorso-ventral axis formation_Homo sapiens_hsa043201.80950543
28RNA polymerase_Homo sapiens_hsa030201.80674775
29Bladder cancer_Homo sapiens_hsa052191.76740563
30Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.75193749
31Non-small cell lung cancer_Homo sapiens_hsa052231.74520527
32Selenocompound metabolism_Homo sapiens_hsa004501.72555434
33Hedgehog signaling pathway_Homo sapiens_hsa043401.72353312
34Cyanoamino acid metabolism_Homo sapiens_hsa004601.69367360
35Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.67735038
36Central carbon metabolism in cancer_Homo sapiens_hsa052301.67314167
37Cocaine addiction_Homo sapiens_hsa050301.66499618
38Homologous recombination_Homo sapiens_hsa034401.64851933
39mRNA surveillance pathway_Homo sapiens_hsa030151.49579755
40Huntingtons disease_Homo sapiens_hsa050161.48540661
41Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.44493435
42Wnt signaling pathway_Homo sapiens_hsa043101.38350622
43Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.38102318
44Dopaminergic synapse_Homo sapiens_hsa047281.36733868
45p53 signaling pathway_Homo sapiens_hsa041151.35093473
46Arginine and proline metabolism_Homo sapiens_hsa003301.31405642
47Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.28669747
48Renin secretion_Homo sapiens_hsa049241.27579368
49Glycerolipid metabolism_Homo sapiens_hsa005611.25616530
50Basal cell carcinoma_Homo sapiens_hsa052171.21914106
51Cholinergic synapse_Homo sapiens_hsa047251.20682231
52Pentose phosphate pathway_Homo sapiens_hsa000301.20221156
53Nucleotide excision repair_Homo sapiens_hsa034201.16103932
54Estrogen signaling pathway_Homo sapiens_hsa049151.15361348
55Vitamin B6 metabolism_Homo sapiens_hsa007501.13476495
56Long-term potentiation_Homo sapiens_hsa047201.11787571
57Cardiac muscle contraction_Homo sapiens_hsa042601.11139215
58Carbohydrate digestion and absorption_Homo sapiens_hsa049731.08400700
59One carbon pool by folate_Homo sapiens_hsa006701.06206835
60Pancreatic cancer_Homo sapiens_hsa052121.03604380
61Thyroid cancer_Homo sapiens_hsa052161.02825577
62Folate biosynthesis_Homo sapiens_hsa007901.02304921
63Chronic myeloid leukemia_Homo sapiens_hsa052201.01829957
64Melanoma_Homo sapiens_hsa052181.00387020
65Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.99893148
66Propanoate metabolism_Homo sapiens_hsa006400.99856765
67Glycerophospholipid metabolism_Homo sapiens_hsa005640.99659029
68Viral carcinogenesis_Homo sapiens_hsa052030.98460416
69Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.97934109
70Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.96756688
712-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.93738726
72RNA transport_Homo sapiens_hsa030130.91245426
73Fructose and mannose metabolism_Homo sapiens_hsa000510.90903384
74Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.89351672
75Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.89170675
76Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.85919059
77Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.85503687
78Fat digestion and absorption_Homo sapiens_hsa049750.84776673
79Olfactory transduction_Homo sapiens_hsa047400.82723172
80cGMP-PKG signaling pathway_Homo sapiens_hsa040220.79906755
81Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.79872668
82AMPK signaling pathway_Homo sapiens_hsa041520.79260175
83Maturity onset diabetes of the young_Homo sapiens_hsa049500.78287495
84Circadian entrainment_Homo sapiens_hsa047130.77340724
85Thyroid hormone signaling pathway_Homo sapiens_hsa049190.76924181
86Proteasome_Homo sapiens_hsa030500.76896561
87VEGF signaling pathway_Homo sapiens_hsa043700.76788016
88Melanogenesis_Homo sapiens_hsa049160.74167286
89Histidine metabolism_Homo sapiens_hsa003400.73606920
90Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.72782029
91Axon guidance_Homo sapiens_hsa043600.72530777
92Lysine degradation_Homo sapiens_hsa003100.71819619
93Ether lipid metabolism_Homo sapiens_hsa005650.71017527
94Insulin secretion_Homo sapiens_hsa049110.69660650
95Parkinsons disease_Homo sapiens_hsa050120.68415726
96Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.68129340
97Hippo signaling pathway_Homo sapiens_hsa043900.65231467
98Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.64556099
99Galactose metabolism_Homo sapiens_hsa000520.64274670
100Small cell lung cancer_Homo sapiens_hsa052220.63826857
101Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.63812978
102Carbon metabolism_Homo sapiens_hsa012000.63630672
103HTLV-I infection_Homo sapiens_hsa051660.62207853
104N-Glycan biosynthesis_Homo sapiens_hsa005100.59515682
105Collecting duct acid secretion_Homo sapiens_hsa049660.57977164
106Non-homologous end-joining_Homo sapiens_hsa034500.56666316
107Endometrial cancer_Homo sapiens_hsa052130.56525287
108Glioma_Homo sapiens_hsa052140.56235846
109Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.55743189
110MicroRNAs in cancer_Homo sapiens_hsa052060.54420664
111Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.52324963
112Bile secretion_Homo sapiens_hsa049760.50306771
113Endocytosis_Homo sapiens_hsa041440.50283337
114Tight junction_Homo sapiens_hsa045300.49921145
115Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.49892944
116Cysteine and methionine metabolism_Homo sapiens_hsa002700.49301885
117PPAR signaling pathway_Homo sapiens_hsa033200.48150017
118Fanconi anemia pathway_Homo sapiens_hsa034600.47450884
119Biosynthesis of amino acids_Homo sapiens_hsa012300.47146038
120Adipocytokine signaling pathway_Homo sapiens_hsa049200.46167126
121Cell cycle_Homo sapiens_hsa041100.46163325
122Metabolic pathways_Homo sapiens_hsa011000.45756761
123Oxytocin signaling pathway_Homo sapiens_hsa049210.45376273
124Fatty acid metabolism_Homo sapiens_hsa012120.44577203
125Alzheimers disease_Homo sapiens_hsa050100.43707766
126Prion diseases_Homo sapiens_hsa050200.42434641
127Thyroid hormone synthesis_Homo sapiens_hsa049180.42041397
128Vascular smooth muscle contraction_Homo sapiens_hsa042700.41905887
129Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.41502752
130Gap junction_Homo sapiens_hsa045400.41067921
131Insulin signaling pathway_Homo sapiens_hsa049100.40799518
132mTOR signaling pathway_Homo sapiens_hsa041500.39870192
133Purine metabolism_Homo sapiens_hsa002300.39310938
134Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.37600461
135Glutathione metabolism_Homo sapiens_hsa004800.37478756
136Transcriptional misregulation in cancer_Homo sapiens_hsa052020.37076145
137Colorectal cancer_Homo sapiens_hsa052100.35680921
138Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.35232980
139Pancreatic secretion_Homo sapiens_hsa049720.35062920
140Oxidative phosphorylation_Homo sapiens_hsa001900.34813645
141Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.34501790
142Neurotrophin signaling pathway_Homo sapiens_hsa047220.34024438
143Inositol phosphate metabolism_Homo sapiens_hsa005620.33688400
144Pentose and glucuronate interconversions_Homo sapiens_hsa000400.32786055
145Vibrio cholerae infection_Homo sapiens_hsa051100.32747618
146Longevity regulating pathway - mammal_Homo sapiens_hsa042110.32617323
147Fatty acid elongation_Homo sapiens_hsa000620.29527506
148Prostate cancer_Homo sapiens_hsa052150.28477946
149ErbB signaling pathway_Homo sapiens_hsa040120.28163993
150Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.25751274
151Acute myeloid leukemia_Homo sapiens_hsa052210.25262118
152Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.24202995

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