DRD3

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 the D3 subtype of the five (D1-D5) dopamine receptors. The activity of the D3 subtype receptor is mediated by G proteins which inhibit adenylyl cyclase. This receptor is localized to the limbic areas of the brain, which are associated with cognitive, emotional, and endocrine functions. Genetic variation in this gene may be associated with susceptibility to hereditary essential tremor 1. Alternative splicing of this gene results in transcript variants encoding different isoforms, although some variants may be subject to nonsense-mediated decay (NMD). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1V(D)J recombination (GO:0033151)8.63100283
2negative regulation of thymocyte apoptotic process (GO:0070244)8.20012909
3sperm motility (GO:0030317)7.19391411
4polyamine biosynthetic process (GO:0006596)6.94334483
5artery development (GO:0060840)6.87306886
6regulation of cAMP-dependent protein kinase activity (GO:2000479)6.72577289
7outer ear morphogenesis (GO:0042473)6.63325980
8acrosome reaction (GO:0007340)5.85788685
9cellular response to ethanol (GO:0071361)5.82178829
10fusion of sperm to egg plasma membrane (GO:0007342)5.23612501
11multicellular organism reproduction (GO:0032504)5.21012454
12response to pheromone (GO:0019236)5.09057359
13lung-associated mesenchyme development (GO:0060484)5.05542177
14striatum development (GO:0021756)5.02920078
15regulation of attachment of spindle microtubules to kinetochore (GO:0051988)4.95185505
16* prepulse inhibition (GO:0060134)4.89211780
17response to hydroperoxide (GO:0033194)4.83106952
18positive regulation of intracellular steroid hormone receptor signaling pathway (GO:0033145)4.79090681
19centriole replication (GO:0007099)4.76465790
20sperm-egg recognition (GO:0035036)4.74309630
21vitamin transmembrane transport (GO:0035461)4.65326415
22cellular biogenic amine biosynthetic process (GO:0042401)4.65013365
23regulation of cilium movement (GO:0003352)4.51332843
24polyamine metabolic process (GO:0006595)4.51057252
25protein targeting to Golgi (GO:0000042)4.50743399
26single fertilization (GO:0007338)4.50026291
27regulation of thymocyte apoptotic process (GO:0070243)4.49534359
28spermatid development (GO:0007286)4.48896586
29positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)4.48730592
30amine biosynthetic process (GO:0009309)4.46640020
31negative regulation of norepinephrine secretion (GO:0010700)4.45398580
32establishment of protein localization to Golgi (GO:0072600)4.43986018
33regulation of short-term neuronal synaptic plasticity (GO:0048172)4.43599685
34purine nucleobase biosynthetic process (GO:0009113)4.41456462
35T cell lineage commitment (GO:0002360)4.38712163
36cellular biogenic amine catabolic process (GO:0042402)4.38335837
37amine catabolic process (GO:0009310)4.38335837
38protein polyglutamylation (GO:0018095)4.27250322
39facial nerve structural organization (GO:0021612)4.19103191
40ribosome assembly (GO:0042255)4.18376929
41regulation of exit from mitosis (GO:0007096)4.14830735
42nonmotile primary cilium assembly (GO:0035058)4.14693517
43somatic diversification of immune receptors via germline recombination within a single locus (GO:0004.11349868
44somatic cell DNA recombination (GO:0016444)4.11349868
45retrograde transport, vesicle recycling within Golgi (GO:0000301)4.09008966
46L-alpha-amino acid transmembrane transport (GO:1902475)4.06094872
47piRNA metabolic process (GO:0034587)4.06091891
48plasma membrane fusion (GO:0045026)4.05425681
49rRNA methylation (GO:0031167)4.05347953
50reproduction (GO:0000003)4.03967870
51cell-cell recognition (GO:0009988)3.99887232
52single strand break repair (GO:0000012)3.98094850
53fertilization (GO:0009566)3.97969063
54somatic diversification of immune receptors (GO:0002200)3.94776382
55mitotic metaphase plate congression (GO:0007080)3.93198964
56protein localization to Golgi apparatus (GO:0034067)3.93072456
57folic acid transport (GO:0015884)3.92105192
58binding of sperm to zona pellucida (GO:0007339)3.89913408
59T cell differentiation in thymus (GO:0033077)3.81327552
60microtubule nucleation (GO:0007020)3.80107706
61centriole assembly (GO:0098534)3.78259253
62resolution of meiotic recombination intermediates (GO:0000712)3.77673856
63GMP metabolic process (GO:0046037)3.76932223
64* regulation of dopamine uptake involved in synaptic transmission (GO:0051584)3.73924390
65* regulation of catecholamine uptake involved in synaptic transmission (GO:0051940)3.73924390
66regulation of norepinephrine secretion (GO:0014061)3.73764923
67low-density lipoprotein particle clearance (GO:0034383)3.72493146
68ubiquinone biosynthetic process (GO:0006744)3.71901700
69DNA methylation involved in gamete generation (GO:0043046)3.63376622
70spermatogenesis (GO:0007283)3.62354205
71cilium or flagellum-dependent cell motility (GO:0001539)3.62202001
72folic acid metabolic process (GO:0046655)3.61770190
73male gamete generation (GO:0048232)3.60969787
74positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.60312246
75sperm capacitation (GO:0048240)3.59632497
76regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)3.58817003
77negative regulation of T cell apoptotic process (GO:0070233)3.56550130
78regulation of centriole replication (GO:0046599)3.54987407
79nucleobase biosynthetic process (GO:0046112)3.51434828
80labyrinthine layer development (GO:0060711)3.47445820
81ionotropic glutamate receptor signaling pathway (GO:0035235)3.47093900
82cardiovascular system development (GO:0072358)3.43658884
83phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)3.43491057
84left/right axis specification (GO:0070986)3.40046548
85spermatid nucleus differentiation (GO:0007289)3.39797983
86ubiquinone metabolic process (GO:0006743)3.39291949
87peptidyl-arginine methylation (GO:0018216)3.39101472
88peptidyl-arginine N-methylation (GO:0035246)3.39101472
89cranial nerve structural organization (GO:0021604)3.38280133
90negative regulation of hormone biosynthetic process (GO:0032353)3.37030218
91negative regulation of hormone metabolic process (GO:0032351)3.37030218
92blastocyst development (GO:0001824)3.35954510
93regulation of histone H3-K27 methylation (GO:0061085)3.34995307
94peptidyl-arginine omega-N-methylation (GO:0035247)3.34976113
95nephron tubule morphogenesis (GO:0072078)3.34701226
96nephron epithelium morphogenesis (GO:0072088)3.34701226
97gamete generation (GO:0007276)3.32037048
98protein localization to synapse (GO:0035418)3.31499233
99* synaptic transmission, dopaminergic (GO:0001963)3.31401172
100histone arginine methylation (GO:0034969)3.31116674
101mitochondrion morphogenesis (GO:0070584)3.28772083
102regulation of uterine smooth muscle contraction (GO:0070472)3.24057411
103organic cation transport (GO:0015695)3.23934070
104regulation of meiosis I (GO:0060631)3.21921306
105calcium ion-dependent exocytosis (GO:0017156)3.21534365
106synaptic transmission, glutamatergic (GO:0035249)3.20423549
107seminiferous tubule development (GO:0072520)3.17144421
108protein K48-linked deubiquitination (GO:0071108)3.12571179
109quinone biosynthetic process (GO:1901663)3.11662154
110detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.08902837
111neurotransmitter catabolic process (GO:0042135)3.08561903
112DNA packaging (GO:0006323)3.07400355
113interferon-gamma secretion (GO:0072643)3.06972691
114NADH metabolic process (GO:0006734)3.04793354
115behavioral fear response (GO:0001662)3.03363754
116behavioral defense response (GO:0002209)3.03363754
117* neuron-neuron synaptic transmission (GO:0007270)3.03256411
118histone H2B ubiquitination (GO:0033523)3.03105091
119motile cilium assembly (GO:0044458)3.01058442
120cochlea development (GO:0090102)3.00439738
121chromosome condensation (GO:0030261)2.99456206
122regulation of spindle organization (GO:0090224)2.99393988
123regulation of microtubule-based movement (GO:0060632)2.99267036
124autophagic vacuole assembly (GO:0000045)2.99256452
125CDP-diacylglycerol metabolic process (GO:0046341)2.98987454
126cilium assembly (GO:0042384)2.97265063
127regulation of RNA export from nucleus (GO:0046831)2.96614472
128axonemal dynein complex assembly (GO:0070286)2.96090109
129cilium organization (GO:0044782)2.94894491
130male meiosis I (GO:0007141)2.94748536
131regulation of cardioblast differentiation (GO:0051890)2.94519863
132regulation of establishment of cell polarity (GO:2000114)2.94496720
133cilium movement (GO:0003341)2.94190770
134negative regulation of catecholamine secretion (GO:0033604)2.93560659
135heparan sulfate proteoglycan biosynthetic process (GO:0015012)2.92881292
136intestinal epithelial cell development (GO:0060576)2.90794146
137* regulation of neurotransmitter uptake (GO:0051580)2.90573136
138regulation of meiosis (GO:0040020)2.90126374
139auditory receptor cell stereocilium organization (GO:0060088)2.89589638
140transcription elongation from RNA polymerase I promoter (GO:0006362)2.88779349
141peristalsis (GO:0030432)2.88438129
142histone-serine phosphorylation (GO:0035404)2.87177375
143positive regulation of ERBB signaling pathway (GO:1901186)2.86510494
144positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)2.85939775
145positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)2.85501525
146cell morphogenesis involved in neuron differentiation (GO:0048667)2.83016713
147glycerol metabolic process (GO:0006071)2.82442856
148termination of RNA polymerase I transcription (GO:0006363)2.82369059
149positive regulation of synaptic transmission, GABAergic (GO:0032230)2.80977577
150generation of neurons (GO:0048699)2.80171510
151cilium morphogenesis (GO:0060271)2.79619987
152* adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)2.79158966
153positive regulation of calcium ion-dependent exocytosis (GO:0045956)2.79118003
154negative regulation of mast cell activation (GO:0033004)2.78544167
155histone monoubiquitination (GO:0010390)2.77998653
156drinking behavior (GO:0042756)2.75447459
157epithelial cilium movement (GO:0003351)2.73892058
158cerebellar granule cell differentiation (GO:0021707)2.73031867
159regulation of excitatory postsynaptic membrane potential (GO:0060079)2.72347030
160* multicellular organismal movement (GO:0050879)2.71050140
161* musculoskeletal movement (GO:0050881)2.71050140
162modified amino acid transport (GO:0072337)2.70818906
163regulation of transcription involved in cell fate commitment (GO:0060850)2.70785114
164outflow tract septum morphogenesis (GO:0003148)2.70267681
165microtubule depolymerization (GO:0007019)2.69756746
166* behavioral response to cocaine (GO:0048148)2.69271305
167* dopamine receptor signaling pathway (GO:0007212)2.69251453
168activation of protein kinase A activity (GO:0034199)2.67070888
169keratinocyte development (GO:0003334)2.64382570
170glutamate receptor signaling pathway (GO:0007215)2.61443017
171fear response (GO:0042596)2.59058624
172ectodermal placode formation (GO:0060788)2.57380762
1737-methylguanosine mRNA capping (GO:0006370)2.57345290
174microtubule polymerization or depolymerization (GO:0031109)2.56782048
175regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act2.56132857
176activation of protein kinase B activity (GO:0032148)2.55974855
177regulation of telomere maintenance via telomerase (GO:0032210)2.55610630
178vitamin transport (GO:0051180)2.54953915
179regulation of early endosome to late endosome transport (GO:2000641)2.54727433
180regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.51641623
181rRNA modification (GO:0000154)2.51462034
182monoubiquitinated protein deubiquitination (GO:0035520)2.51417431
183regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)2.50643874
184long term synaptic depression (GO:0060292)2.50475519
185DNA replication checkpoint (GO:0000076)2.49830370
186neuronal action potential propagation (GO:0019227)2.49696329
187positive regulation of synapse maturation (GO:0090129)2.48663895
188positive regulation of DNA-templated transcription, elongation (GO:0032786)2.48279536
189dendrite development (GO:0016358)2.47627871
190metaphase plate congression (GO:0051310)2.44984406
191neurotransmitter-gated ion channel clustering (GO:0072578)2.44278040
192protein K6-linked ubiquitination (GO:0085020)2.43216932
193positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)2.42914534
194regulation of transforming growth factor beta1 production (GO:0032908)2.42739657
1957-methylguanosine RNA capping (GO:0009452)2.42641788

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse4.90267138
2HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse4.53649161
3AR_21909140_ChIP-Seq_LNCAP_Human2.94072281
4RARB_27405468_Chip-Seq_BRAIN_Mouse2.78575279
5ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.72666584
6E2F7_22180533_ChIP-Seq_HELA_Human2.61213850
7TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.58127917
8IKZF1_21737484_ChIP-ChIP_HCT116_Human2.52316439
9TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.44973976
10POU5F1_26923725_Chip-Seq_MESODERM_Mouse2.44973976
11IGF1R_20145208_ChIP-Seq_DFB_Human2.37543313
12MYC_19079543_ChIP-ChIP_MESCs_Mouse2.35245781
13ZNF263_19887448_ChIP-Seq_K562_Human2.26590580
14PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.21174238
15FOXM1_23109430_ChIP-Seq_U2OS_Human2.20000319
16NACC1_18358816_ChIP-ChIP_MESCs_Mouse2.13182805
17TAF15_26573619_Chip-Seq_HEK293_Human2.02368701
18POU5F1_16153702_ChIP-ChIP_HESCs_Human1.97956089
19GATA1_26923725_Chip-Seq_HPCs_Mouse1.97190196
20BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.96209386
21ETS1_20019798_ChIP-Seq_JURKAT_Human1.96145675
22GATA3_21878914_ChIP-Seq_MCF-7_Human1.90076415
23CTBP2_25329375_ChIP-Seq_LNCAP_Human1.88249144
24P300_19829295_ChIP-Seq_ESCs_Human1.86417438
25ESR2_21235772_ChIP-Seq_MCF-7_Human1.85891432
26MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.81661140
27GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.79614952
28SALL1_21062744_ChIP-ChIP_HESCs_Human1.76505492
29TP63_19390658_ChIP-ChIP_HaCaT_Human1.74675849
30AHR_22903824_ChIP-Seq_MCF-7_Human1.72916635
31BP1_19119308_ChIP-ChIP_Hs578T_Human1.72862081
32ZNF274_21170338_ChIP-Seq_K562_Hela1.71279910
33SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.69953465
34NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.69511281
35NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.66801128
36IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.65648282
37CBP_20019798_ChIP-Seq_JUKART_Human1.65648282
38EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.65182485
39EZH2_22144423_ChIP-Seq_EOC_Human1.64454925
40CREB1_15753290_ChIP-ChIP_HEK293T_Human1.64200374
41ER_23166858_ChIP-Seq_MCF-7_Human1.63785400
42ERG_21242973_ChIP-ChIP_JURKAT_Human1.63469096
43NANOG_18555785_ChIP-Seq_MESCs_Mouse1.61494098
44POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.60586133
45FOXA1_25329375_ChIP-Seq_VCAP_Human1.56560688
46FOXA1_27270436_Chip-Seq_PROSTATE_Human1.56560688
47SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.54962272
48JARID2_20064375_ChIP-Seq_MESCs_Mouse1.54695229
49* KAP1_22055183_ChIP-Seq_ESCs_Mouse1.53322667
50REST_18959480_ChIP-ChIP_MESCs_Mouse1.52599555
51* REST_21632747_ChIP-Seq_MESCs_Mouse1.52469593
52NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.52081987
53CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.51753082
54RBPJ_22232070_ChIP-Seq_NCS_Mouse1.51611572
55RXR_22108803_ChIP-Seq_LS180_Human1.50855891
56PCGF2_27294783_Chip-Seq_NPCs_Mouse1.50755853
57AR_25329375_ChIP-Seq_VCAP_Human1.48134088
58* NANOG_19829295_ChIP-Seq_ESCs_Human1.47709440
59* SOX2_19829295_ChIP-Seq_ESCs_Human1.47709440
60JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.44040574
61EBNA1_20929547_Chip-Seq_RAJI-cells_Human1.42060243
62SMAD3_21741376_ChIP-Seq_EPCs_Human1.40423754
63ZFP57_27257070_Chip-Seq_ESCs_Mouse1.40334400
64KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.40287580
65EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.39824448
66STAT3_23295773_ChIP-Seq_U87_Human1.39533953
67FUS_26573619_Chip-Seq_HEK293_Human1.38941865
68KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.38186927
69EST1_17652178_ChIP-ChIP_JURKAT_Human1.36163827
70FLI1_27457419_Chip-Seq_LIVER_Mouse1.35807961
71MYC_19829295_ChIP-Seq_ESCs_Human1.35588103
72P53_22127205_ChIP-Seq_FIBROBLAST_Human1.35230945
73CTBP1_25329375_ChIP-Seq_LNCAP_Human1.34810450
74RAC3_21632823_ChIP-Seq_H3396_Human1.34409457
75SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.33929343
76TOP2B_26459242_ChIP-Seq_MCF-7_Human1.31683363
77UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.30234035
78SMAD3_21741376_ChIP-Seq_ESCs_Human1.30054373
79NANOG_20526341_ChIP-Seq_ESCs_Human1.29593496
80PCGF2_27294783_Chip-Seq_ESCs_Mouse1.29560673
81RUNX2_22187159_ChIP-Seq_PCA_Human1.28214148
82TCF4_23295773_ChIP-Seq_U87_Human1.27922132
83CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.27681318
84TET1_21490601_ChIP-Seq_MESCs_Mouse1.27600752
85SMAD4_21799915_ChIP-Seq_A2780_Human1.27468413
86PRDM14_20953172_ChIP-Seq_ESCs_Human1.27299656
87ESR1_15608294_ChIP-ChIP_MCF-7_Human1.25335663
88EZH2_18974828_ChIP-Seq_MESCs_Mouse1.25283318
89RNF2_18974828_ChIP-Seq_MESCs_Mouse1.25283318
90OCT4_20526341_ChIP-Seq_ESCs_Human1.25193878
91SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.25158726
92ERA_21632823_ChIP-Seq_H3396_Human1.24469503
93TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.24418925
94P53_21459846_ChIP-Seq_SAOS-2_Human1.24227875
95* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.23713103
96HOXB7_26014856_ChIP-Seq_BT474_Human1.23608610
97OCT1_27270436_Chip-Seq_PROSTATE_Human1.22908220
98RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.22014800
99FLI1_21867929_ChIP-Seq_TH2_Mouse1.21800544
100CEBPB_22108803_ChIP-Seq_LS180_Human1.19641149
101ELK4_26923725_Chip-Seq_MESODERM_Mouse1.18932770
102TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.18282720
103FOXA1_21572438_ChIP-Seq_LNCaP_Human1.17459135
104KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.15329687
105KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.15329687
106KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.15329687
107TDRD3_21172665_ChIP-Seq_MCF-7_Human1.15016746
108ERG_20517297_ChIP-Seq_VCAP_Human1.15012520
109MYC_18555785_ChIP-Seq_MESCs_Mouse1.14792596
110CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.12564773
111GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human1.11942304
112SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.10559932
113GATA1_22025678_ChIP-Seq_K562_Human1.10526664
114SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.10114777
115TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.10040504
116CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.09249596
117EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.09134266
118NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.09004621
119MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.08987346
120MYC_18940864_ChIP-ChIP_HL60_Human1.08185951
121TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human1.07470840
122CBX2_22325352_ChIP-Seq_293T-Rex_Human1.07160539
123* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.06925418
124GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.06279019
125EGR1_23403033_ChIP-Seq_LIVER_Mouse1.05956960
126KDM2B_26808549_Chip-Seq_REH_Human1.05886955
127TAF2_19829295_ChIP-Seq_ESCs_Human1.05514943
128KLF5_20875108_ChIP-Seq_MESCs_Mouse1.05446473
129AR_20517297_ChIP-Seq_VCAP_Human1.04896110
130PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.04088624
131NFYB_21822215_ChIP-Seq_K562_Human1.03289187
132NR3C1_21868756_ChIP-Seq_MCF10A_Human1.03027343
133MTF2_20144788_ChIP-Seq_MESCs_Mouse1.02895447
134SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.01964272
135SUZ12_27294783_Chip-Seq_NPCs_Mouse1.01749888
136TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human1.01567161
137EZH2_27294783_Chip-Seq_NPCs_Mouse1.00978241
138NFE2_27457419_Chip-Seq_LIVER_Mouse1.00953553
139EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.00044744
140ETV1_20927104_ChIP-Seq_GIST48_Human0.99708781
141EWS_26573619_Chip-Seq_HEK293_Human0.99406310
142KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.98512154
143SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.97273499
144* FOXH1_21741376_ChIP-Seq_ESCs_Human0.96153562
145SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.95899339
146AUTS2_25519132_ChIP-Seq_293T-REX_Human0.93846036
147GABP_17652178_ChIP-ChIP_JURKAT_Human0.93149988
148KLF4_18555785_ChIP-Seq_MESCs_Mouse0.93126675
149RBPJ_21746931_ChIP-Seq_IB4_Human0.92982352
150TBX3_20139965_ChIP-Seq_ESCs_Mouse0.92568338
151EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.92501523
152AR_21572438_ChIP-Seq_LNCaP_Human0.92500266
153MYC_19030024_ChIP-ChIP_MESCs_Mouse0.92417244
154TBX3_20139965_ChIP-Seq_MESCs_Mouse0.91444232
155SMAD4_21741376_ChIP-Seq_EPCs_Human0.89920877
156SOX2_21211035_ChIP-Seq_LN229_Gbm0.89548550
157PIAS1_25552417_ChIP-Seq_VCAP_Human0.89542766
158ARNT_22903824_ChIP-Seq_MCF-7_Human0.89223655
159GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.88911372
160SMAD_19615063_ChIP-ChIP_OVARY_Human0.88138055
161EOMES_21245162_ChIP-Seq_HESCs_Human0.87100802
162KDM5A_27292631_Chip-Seq_BREAST_Human0.86475928
163TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.86350239
164SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.86089729
165NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.83592121
166NCOR_22424771_ChIP-Seq_293T_Human0.82718803
167EZH2_27304074_Chip-Seq_ESCs_Mouse0.82668404
168VDR_22108803_ChIP-Seq_LS180_Human0.82408615
169CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.81844642
170MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.81154587
171JARID2_20075857_ChIP-Seq_MESCs_Mouse0.80730859
172TCF3_18347094_ChIP-ChIP_MESCs_Mouse0.80489803
173NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.80420422
174STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.80084334
175TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.79915057
176MYC_18358816_ChIP-ChIP_MESCs_Mouse0.79791938
177SUZ12_27294783_Chip-Seq_ESCs_Mouse0.79780758
178TCF3_18692474_ChIP-Seq_MESCs_Mouse0.79159489

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005410_abnormal_fertilization5.34752289
2MP0009278_abnormal_bone_marrow4.84490189
3MP0002876_abnormal_thyroid_physiology4.66066444
4MP0004859_abnormal_synaptic_plasticity3.95954762
5MP0004270_analgesia3.41192810
6MP0008260_abnormal_autophagy3.08693850
7MP0003718_maternal_effect3.00409960
8MP0010030_abnormal_orbit_morphology2.94312025
9MP0004885_abnormal_endolymph2.89297954
10MP0003880_abnormal_central_pattern2.88783596
11MP0002249_abnormal_larynx_morphology2.78413824
12MP0003693_abnormal_embryo_hatching2.75661137
13MP0002166_altered_tumor_susceptibility2.70385555
14MP0002163_abnormal_gland_morphology2.65032743
15MP0005397_hematopoietic_system_phenotyp2.64071702
16MP0001545_abnormal_hematopoietic_system2.64071702
17MP0010234_abnormal_vibrissa_follicle2.57158629
18MP0003635_abnormal_synaptic_transmissio2.56987014
19MP0003111_abnormal_nucleus_morphology2.49214300
20MP0002132_abnormal_respiratory_system2.42538640
21MP0002822_catalepsy2.28129964
22MP0005670_abnormal_white_adipose2.19869884
23MP0003136_yellow_coat_color2.19198081
24MP0003123_paternal_imprinting2.14008809
25* MP0002063_abnormal_learning/memory/cond2.12942626
26MP0002006_tumorigenesis2.03251690
27MP0002734_abnormal_mechanical_nocicepti1.98753298
28MP0003698_abnormal_male_reproductive1.98234034
29MP0004957_abnormal_blastocyst_morpholog1.93315369
30MP0009840_abnormal_foam_cell1.91368939
31MP0001879_abnormal_lymphatic_vessel1.89582059
32MP0004947_skin_inflammation1.87445100
33* MP0009745_abnormal_behavioral_response1.85386470
34MP0001485_abnormal_pinna_reflex1.81939443
35MP0002735_abnormal_chemical_nociception1.81617528
36MP0003329_amyloid_beta_deposits1.81356940
37MP0001929_abnormal_gametogenesis1.80370508
38MP0004084_abnormal_cardiac_muscle1.77629110
39* MP0001486_abnormal_startle_reflex1.76543572
40MP0002102_abnormal_ear_morphology1.73130365
41MP0002933_joint_inflammation1.72339155
42MP0005379_endocrine/exocrine_gland_phen1.67256043
43MP0000462_abnormal_digestive_system1.66785803
44MP0005671_abnormal_response_to1.64970361
45MP0001970_abnormal_pain_threshold1.63510533
46MP0005187_abnormal_penis_morphology1.58432412
47MP0003567_abnormal_fetal_cardiomyocyte1.56738676
48MP0001529_abnormal_vocalization1.56538317
49MP0009046_muscle_twitch1.55586466
50MP0001661_extended_life_span1.55424586
51MP0003011_delayed_dark_adaptation1.55057262
52* MP0002572_abnormal_emotion/affect_behav1.53837853
53MP0008007_abnormal_cellular_replicative1.53695474
54MP0001968_abnormal_touch/_nociception1.48012033
55* MP0005451_abnormal_body_composition1.46948948
56MP0005377_hearing/vestibular/ear_phenot1.46293854
57MP0003878_abnormal_ear_physiology1.46293854
58MP0005248_abnormal_Harderian_gland1.43862550
59MP0005551_abnormal_eye_electrophysiolog1.43788100
60* MP0001440_abnormal_grooming_behavior1.43182026
61MP0002064_seizures1.39188828
62MP0002095_abnormal_skin_pigmentation1.37899381
63MP0003077_abnormal_cell_cycle1.36736291
64MP0008875_abnormal_xenobiotic_pharmacok1.36660023
65MP0003879_abnormal_hair_cell1.35964582
66MP0000049_abnormal_middle_ear1.34318183
67MP0009785_altered_susceptibility_to1.34025694
68MP0002733_abnormal_thermal_nociception1.33242888
69MP0001984_abnormal_olfaction1.32217517
70MP0010678_abnormal_skin_adnexa1.29665544
71MP0005253_abnormal_eye_physiology1.28787458
72MP0002282_abnormal_trachea_morphology1.27419133
73MP0006072_abnormal_retinal_apoptosis1.23860152
74MP0002234_abnormal_pharynx_morphology1.22651074
75MP0010094_abnormal_chromosome_stability1.18823487
76MP0000647_abnormal_sebaceous_gland1.18558601
77MP0001730_embryonic_growth_arrest1.18058375
78MP0000026_abnormal_inner_ear1.16933579
79MP0003941_abnormal_skin_development1.16074911
80MP0003646_muscle_fatigue1.15231979
81MP0001849_ear_inflammation1.14842278
82MP0002127_abnormal_cardiovascular_syste1.14749345
83MP0002272_abnormal_nervous_system1.11282179
84MP0000685_abnormal_immune_system1.11148749
85MP0001835_abnormal_antigen_presentation1.09397820
86MP0009697_abnormal_copulation1.08156561
87MP0000678_abnormal_parathyroid_gland1.08144533
88MP0000604_amyloidosis1.04153468
89MP0001986_abnormal_taste_sensitivity1.04004458
90MP0004036_abnormal_muscle_relaxation1.01315236
91MP0005310_abnormal_salivary_gland0.99506116
92MP0002184_abnormal_innervation0.98245288
93MP0004142_abnormal_muscle_tone0.96842912
94MP0001501_abnormal_sleep_pattern0.96285809
95MP0003938_abnormal_ear_development0.95860026
96* MP0008872_abnormal_physiological_respon0.95309138
97MP0002653_abnormal_ependyma_morphology0.93782781
98MP0001919_abnormal_reproductive_system0.93734007
99MP0002736_abnormal_nociception_after0.93505408
100MP0002233_abnormal_nose_morphology0.92165883
101MP0008932_abnormal_embryonic_tissue0.91830216
102MP0004019_abnormal_vitamin_homeostasis0.91442349
103MP0005395_other_phenotype0.90564184
104MP0005360_urolithiasis0.90015257
105MP0000778_abnormal_nervous_system0.90003862
106MP0006292_abnormal_olfactory_placode0.89735533
107MP0001800_abnormal_humoral_immune0.89210367
108MP0003195_calcinosis0.85812551
109* MP0002067_abnormal_sensory_capabilities0.85714344
110MP0003699_abnormal_female_reproductive0.85562337
111MP0003755_abnormal_palate_morphology0.85198126
112MP0004147_increased_porphyrin_level0.84766433
113MP0008775_abnormal_heart_ventricle0.84217952
114MP0001299_abnormal_eye_distance/0.84009270
115MP0002909_abnormal_adrenal_gland0.83575083
116MP0000534_abnormal_ureter_morphology0.82159885
117MP0009672_abnormal_birth_weight0.80994237
118MP0002210_abnormal_sex_determination0.80966577
119MP0005380_embryogenesis_phenotype0.80845188
120MP0001672_abnormal_embryogenesis/_devel0.80845188
121MP0001177_atelectasis0.80398756
122MP0002009_preneoplasia0.79911393
123MP0008789_abnormal_olfactory_epithelium0.79675634
124MP0002928_abnormal_bile_duct0.77953749
125MP0005508_abnormal_skeleton_morphology0.77509643
126MP0004133_heterotaxia0.77172785
127MP0005365_abnormal_bile_salt0.76006313
128MP0000747_muscle_weakness0.75834284
129* MP0002066_abnormal_motor_capabilities/c0.75275792
130MP0003890_abnormal_embryonic-extraembry0.74582472
131MP0002148_abnormal_hypersensitivity_rea0.74339569
132MP0001963_abnormal_hearing_physiology0.74289119
133MP0000350_abnormal_cell_proliferation0.74073207
134MP0001542_abnormal_bone_strength0.73954905
135MP0002084_abnormal_developmental_patter0.73436089
136MP0000653_abnormal_sex_gland0.71615533
137MP0002837_dystrophic_cardiac_calcinosis0.70446444
138MP0008058_abnormal_DNA_repair0.70415214
139MP0001697_abnormal_embryo_size0.69880549
140MP0008877_abnormal_DNA_methylation0.69435935
141MP0003984_embryonic_growth_retardation0.68417971
142MP0002088_abnormal_embryonic_growth/wei0.68289322
143MP0003656_abnormal_erythrocyte_physiolo0.67977333
144MP0000470_abnormal_stomach_morphology0.67707079
145MP0003632_abnormal_nervous_system0.67613008
146MP0003137_abnormal_impulse_conducting0.67502635
147MP0004264_abnormal_extraembryonic_tissu0.67473891
148MP0009384_cardiac_valve_regurgitation0.66127204
149MP0005391_vision/eye_phenotype0.65404713
150MP0003075_altered_response_to0.65246981
151MP0000013_abnormal_adipose_tissue0.64175419
152MP0004742_abnormal_vestibular_system0.64140640
153MP0002161_abnormal_fertility/fecundity0.63352646
154MP0001145_abnormal_male_reproductive0.63065515
155* MP0001905_abnormal_dopamine_level0.61915122
156MP0006054_spinal_hemorrhage0.59843237
157MP0000427_abnormal_hair_cycle0.57355662
158MP0008770_decreased_survivor_rate0.57110120
159MP0005075_abnormal_melanosome_morpholog0.56977338
160MP0001765_abnormal_ion_homeostasis0.56587196
161MP0001790_abnormal_immune_system0.56361085
162MP0005387_immune_system_phenotype0.56361085
163MP0010155_abnormal_intestine_physiology0.55556382
164MP0005646_abnormal_pituitary_gland0.54380751
165MP0001324_abnormal_eye_pigmentation0.54124318
166MP0001663_abnormal_digestive_system0.53175812
167MP0009764_decreased_sensitivity_to0.52753403
168MP0005386_behavior/neurological_phenoty0.50211224
169MP0004924_abnormal_behavior0.50211224

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of B cell number (HP:0010975)9.44431036
2Panhypogammaglobulinemia (HP:0003139)8.46103933
3Severe combined immunodeficiency (HP:0004430)8.29351927
4Thyroiditis (HP:0100646)7.63787832
5Hypoproteinemia (HP:0003075)7.63359307
6Combined immunodeficiency (HP:0005387)6.81186925
7T lymphocytopenia (HP:0005403)5.64006156
8Abnormal pancreas size (HP:0012094)5.15106358
9Eosinophilia (HP:0001880)5.10477118
1011 pairs of ribs (HP:0000878)5.02317119
11Abnormality of T cell number (HP:0011839)4.68707954
12Erythroderma (HP:0001019)4.64814756
13Entropion (HP:0000621)4.57144897
14Abnormality of the labia minora (HP:0012880)4.42791551
15Broad distal phalanx of finger (HP:0009836)4.40939024
16Abnormality of the umbilical cord (HP:0010881)4.35779293
17Short nail (HP:0001799)4.35696138
18Annular pancreas (HP:0001734)4.35611200
19Granulocytopenia (HP:0001913)3.98765196
20Ventricular fibrillation (HP:0001663)3.79636152
21Abnormality of eosinophils (HP:0001879)3.62504042
22Congenital malformation of the right heart (HP:0011723)3.60210653
23Double outlet right ventricle (HP:0001719)3.60210653
24Atrioventricular block (HP:0001678)3.53269028
25Rough bone trabeculation (HP:0100670)3.33528990
26Chronic hepatic failure (HP:0100626)3.32936303
27Mutism (HP:0002300)3.30400729
28Adrenal hypoplasia (HP:0000835)3.29024885
29Bicornuate uterus (HP:0000813)3.28342743
30IgG deficiency (HP:0004315)3.14521189
31Breast hypoplasia (HP:0003187)3.10744203
32Cerebral hypomyelination (HP:0006808)3.07605552
33Premature rupture of membranes (HP:0001788)3.04727135
34Abnormality of the aortic arch (HP:0012303)3.03882911
35Concave nail (HP:0001598)3.02054274
36Bundle branch block (HP:0011710)3.01754276
37Gout (HP:0001997)2.99787906
38Delusions (HP:0000746)2.97417748
39Irregular vertebral endplates (HP:0003301)2.97035702
40Ureteral duplication (HP:0000073)2.95201283
41Aplasia/Hypoplasia of the thymus (HP:0010515)2.94081701
42Recurrent viral infections (HP:0004429)2.93319095
43Hyperglycemia (HP:0003074)2.91309638
44Submucous cleft hard palate (HP:0000176)2.85259691
45Radial bowing (HP:0002986)2.83527025
46Pancreatic cysts (HP:0001737)2.83323349
47Myokymia (HP:0002411)2.83284919
48Hyperglycinemia (HP:0002154)2.79181528
49Carpal bone hypoplasia (HP:0001498)2.73293082
50Brittle hair (HP:0002299)2.72946816
51Gait imbalance (HP:0002141)2.72663878
52Congenital primary aphakia (HP:0007707)2.72658152
53Attenuation of retinal blood vessels (HP:0007843)2.72180452
54Hypoplastic nipples (HP:0002557)2.70741438
55Birth length less than 3rd percentile (HP:0003561)2.70308165
56Abnormalities of placenta or umbilical cord (HP:0001194)2.68285155
57Facial hemangioma (HP:0000329)2.67742712
58Amyloidosis (HP:0011034)2.62830217
59Abnormality of the vertebral endplates (HP:0005106)2.61542762
60Agammaglobulinemia (HP:0004432)2.61469763
61Male infertility (HP:0003251)2.59366164
62Recurrent fungal infections (HP:0002841)2.53389607
63Focal motor seizures (HP:0011153)2.52742059
64Amelogenesis imperfecta (HP:0000705)2.52270465
65Abnormality of T cells (HP:0002843)2.47685141
66Spinal cord compression (HP:0002176)2.44267388
67Pancreatic fibrosis (HP:0100732)2.44116628
68Short chin (HP:0000331)2.43178929
69Abnormality of midbrain morphology (HP:0002418)2.42152996
70Molar tooth sign on MRI (HP:0002419)2.42152996
71Truncus arteriosus (HP:0001660)2.41209620
72Muscle fiber splitting (HP:0003555)2.40627150
73Abnormality of the corticospinal tract (HP:0002492)2.39256964
74Nephrogenic diabetes insipidus (HP:0009806)2.39064004
75Overlapping toe (HP:0001845)2.39051347
76Oligodactyly (hands) (HP:0001180)2.38771521
77Leukocytosis (HP:0001974)2.38108689
78True hermaphroditism (HP:0010459)2.38077413
79Fragile nails (HP:0001808)2.37977605
80Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.37161846
81Spinal muscular atrophy (HP:0007269)2.36867678
82Abnormal trabecular bone morphology (HP:0100671)2.36523778
83Medial flaring of the eyebrow (HP:0010747)2.35003464
84Pendular nystagmus (HP:0012043)2.34771628
85Hypoplastic ischia (HP:0003175)2.34096112
86Global brain atrophy (HP:0002283)2.34040477
87Poor coordination (HP:0002370)2.32940577
88Abnormality of the thymus (HP:0000777)2.31658626
89Glucose intolerance (HP:0000833)2.30174981
90Oligodontia (HP:0000677)2.29352059
91Patellar aplasia (HP:0006443)2.27912842
92Missing ribs (HP:0000921)2.27728292
93Cupped ribs (HP:0000887)2.27102476
94Abnormality of the distal phalanges of the toes (HP:0010182)2.26874700
95Oligodactyly (HP:0012165)2.23792394
96Patent foramen ovale (HP:0001655)2.19266302
97Aplasia/Hypoplasia of the patella (HP:0006498)2.18079444
98Sparse eyelashes (HP:0000653)2.17822563
99Abnormal rod and cone electroretinograms (HP:0008323)2.17653925
100Tetraplegia (HP:0002445)2.16792833
101Natal tooth (HP:0000695)2.16692626
102Hypoplasia of the capital femoral epiphysis (HP:0003090)2.15776628
103Nephrotic syndrome (HP:0000100)2.14969884
104Large for gestational age (HP:0001520)2.14690519
105Conical tooth (HP:0000698)2.14652772
106Heart block (HP:0012722)2.12625751
107Insidious onset (HP:0003587)2.11567607
108Termporal pattern (HP:0011008)2.11567607
109Congenital, generalized hypertrichosis (HP:0004540)2.11563876
110Pustule (HP:0200039)2.09738661
111Reduced subcutaneous adipose tissue (HP:0003758)2.09589590
112Meningitis (HP:0001287)2.09129272
113Stillbirth (HP:0003826)2.08833244
114Megaloblastic anemia (HP:0001889)2.06941150
115Single umbilical artery (HP:0001195)2.05574539
116Abnormality of the fetal cardiovascular system (HP:0010948)2.05574539
117Abnormal umbilical cord blood vessels (HP:0011403)2.05574539
118Abnormal ciliary motility (HP:0012262)2.05217275
119Ovoid vertebral bodies (HP:0003300)2.02139090
120Flared iliac wings (HP:0002869)2.02089444
121Abnormal atrioventricular conduction (HP:0005150)2.01673934
122B lymphocytopenia (HP:0010976)10.4228602
123Hypoplasia of the thymus (HP:0000778)10.2659249
124CNS hypomyelination (HP:0003429)1.99975547
125Absent/shortened dynein arms (HP:0200106)1.99954854
126Dynein arm defect of respiratory motile cilia (HP:0012255)1.99954854
127Abnormal lung lobation (HP:0002101)1.99581250
128Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.98079150
129Abnormality of the ischium (HP:0003174)1.97348930
130Short palpebral fissure (HP:0012745)1.97065435
131Nephronophthisis (HP:0000090)1.96577364
132Bicuspid aortic valve (HP:0001647)1.96373510
133Breast aplasia (HP:0100783)1.96085727
134Genital tract atresia (HP:0001827)1.95396210
135Short femoral neck (HP:0100864)1.95064434
136Vaginal atresia (HP:0000148)1.94299032
137Cystic liver disease (HP:0006706)1.93937745
138Bony spicule pigmentary retinopathy (HP:0007737)1.93813545
139Shoulder girdle muscle weakness (HP:0003547)1.92531309
140Abnormality of the anterior horn cell (HP:0006802)1.91677589
141Degeneration of anterior horn cells (HP:0002398)1.91677589
142Absent hand (HP:0004050)1.90394122
143Severe visual impairment (HP:0001141)1.90157092
144Cellular immunodeficiency (HP:0005374)1.89659364
145Impulsivity (HP:0100710)1.86975835
146Vertebral arch anomaly (HP:0008438)1.85943765
147Sepsis (HP:0100806)1.85837749
148Morphological abnormality of the inner ear (HP:0011390)1.85083767
149Progressive cerebellar ataxia (HP:0002073)1.85074229
150Atrophy/Degeneration involving motor neurons (HP:0007373)1.84756482
151Aplasia/Hypoplasia of the breasts (HP:0010311)1.84408386
152Abnormality of the hip-girdle musculature (HP:0001445)1.83541044
153Abnormality of the musculature of the pelvis (HP:0001469)1.83541044
154Insulin-resistant diabetes mellitus (HP:0000831)1.82345971
155Hyperglycinuria (HP:0003108)1.78568978
156Abnormality of serine family amino acid metabolism (HP:0010894)1.77229173
157Abnormality of glycine metabolism (HP:0010895)1.77229173
158Pelvic girdle muscle weakness (HP:0003749)1.76339109
159Chronic sinusitis (HP:0011109)1.75192887
160Tubulointerstitial nephritis (HP:0001970)1.75034056
161Unilateral renal agenesis (HP:0000122)1.74495331
162Abnormality of the dental root (HP:0006486)1.74176882
163Taurodontia (HP:0000679)1.74176882
164Abnormality of permanent molar morphology (HP:0011071)1.74176882
165Hypertensive crisis (HP:0100735)1.74129545
166Abnormal respiratory epithelium morphology (HP:0012253)1.73322763
167Abnormal respiratory motile cilium morphology (HP:0005938)1.73322763
168Recurrent pneumonia (HP:0006532)1.73234022
169Cone-rod dystrophy (HP:0000548)1.70188854
170Sclerocornea (HP:0000647)1.66478285
171Keratoconus (HP:0000563)1.65278417
172Increased corneal curvature (HP:0100692)1.65278417
173Constricted visual fields (HP:0001133)1.63974624
174Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)1.63264354
175Abnormal vertebral ossification (HP:0100569)1.60874301
176Decreased central vision (HP:0007663)1.60296890
177Mesangial abnormality (HP:0001966)1.60222004
178Congenital stationary night blindness (HP:0007642)1.58974638
179Abnormal respiratory motile cilium physiology (HP:0012261)1.57195980
180Asymmetric septal hypertrophy (HP:0001670)1.55530706
181Furrowed tongue (HP:0000221)1.54482939
182Aplasia/Hypoplasia involving the pelvis (HP:0009103)1.53829052
183Genetic anticipation (HP:0003743)1.53583690
184Abnormality of the renal medulla (HP:0100957)1.51685707
185Postural instability (HP:0002172)1.50909916
186Bowing of the arm (HP:0006488)1.47436170
187Bowed forearm bones (HP:0003956)1.47436170
188Abnormality of macular pigmentation (HP:0008002)1.44840001
189Broad metatarsal (HP:0001783)1.44064441
190Abolished electroretinogram (ERG) (HP:0000550)1.41082382
191Sparse scalp hair (HP:0002209)1.38846344
192Aplasia/Hypoplasia of the tongue (HP:0010295)1.37979190
193Hyperkalemia (HP:0002153)1.36114977
194Anencephaly (HP:0002323)1.34980884

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BMPR1B5.30583868
2MAP3K94.16608121
3ARAF3.94185519
4MET3.60286600
5INSRR3.34867179
6BUB13.27199514
7AKT33.06105699
8ACVR1B3.02264380
9PIK3CG2.88863167
10TGFBR12.87881045
11KSR22.74884295
12EIF2AK32.66989812
13BRAF2.64583527
14EPHA42.36925553
15FRK2.25331900
16TSSK62.20839701
17WNK12.07945583
18TIE12.01163412
19PLK31.97464785
20GRK11.94234400
21MAP3K21.92729598
22PAK61.87259520
23EPHA21.83152756
24KSR11.80536021
25MINK11.80273866
26ALK1.76057118
27CAMKK21.73176596
28ZAK1.72402536
29WEE11.71479992
30LATS21.69935939
31MAP3K101.65305891
32RAF11.61932318
33NTRK31.59187745
34MUSK1.58035397
35CSNK1G11.57567661
36RIPK41.57424889
37TTK1.54300899
38NEK11.51665294
39NEK21.44898566
40MARK11.44384456
41CSNK1G31.37282761
42PNCK1.31570104
43PLK41.27690171
44BRD41.17153837
45TLK11.16899000
46TRIM281.16847164
47BCR1.12780231
48CSNK1A1L1.12585966
49MAP3K131.11249043
50ADRBK21.10760097
51PLK11.10722629
52VRK11.06776838
53FLT31.05575306
54BRSK11.05412006
55CDK141.04876221
56NME11.01103717
57MAP3K61.00586466
58CSNK1G21.00473363
59TNK20.99340626
60DYRK20.99263375
61TNIK0.99208462
62CDK180.96880927
63PRKCI0.96430557
64MAP2K10.92526267
65CDK150.91442408
66DDR20.91268258
67SGK4940.90501089
68SGK2230.90501089
69VRK20.89535590
70MAPK150.89421207
71NME20.88993766
72CAMKK10.88944649
73SRPK10.88771423
74NUAK10.88542368
75MARK30.87016825
76MKNK20.84631826
77KIT0.82617410
78TAF10.82313270
79STK380.82164885
80CDK11A0.81690510
81AURKA0.78458691
82MAPK130.76741011
83LATS10.76533484
84NTRK20.75530740
85CSNK1E0.75217382
86PTK2B0.74969042
87MKNK10.74945566
88PLK20.74874651
89SGK20.73356163
90CDK80.72510987
91ERBB40.71328566
92STK30.71268662
93CHEK20.69441959
94RPS6KB10.69205671
95NTRK10.69058145
96MAP2K20.66512085
97CDK50.66157568
98ABL20.64581127
99CLK10.60805909
100PAK10.59782781
101PDK40.59150048
102PDK30.59150048
103MOS0.58954115
104CDK40.58774231
105GRK50.58333069
106MELK0.58278400
107BMX0.57965402
108SIK20.57512555
109TAOK10.56635887
110MAP3K120.56297385
111RPS6KA20.55290962
112PRKCG0.54845410
113MAPKAPK30.51775648
114CAMK2A0.51578712
115EEF2K0.51408161
116DYRK1A0.50697039
117SCYL20.50059898
118PRKAA20.49362295
119MAP2K40.49116116
120PINK10.48342078
121MAP3K70.47055970
122STK110.46541463
123TEC0.46104512
124CDC70.45676591
125CHEK10.44806844
126NLK0.44202483
127PDPK10.43227916
128TESK20.43100950
129BMPR20.42958102
130AURKB0.41615795
131STK38L0.41083289
132MAPK100.41082511
133CDK20.39656023
134MAP3K80.39458347
135PRKCH0.39192228
136CSNK1A10.38831694
137TYRO30.38712978
138MAP3K40.38063756
139DAPK20.37861141
140CDK10.37255129
141NEK60.36573958
142RET0.34803245
143MAP3K10.32788061
144MARK20.32770149
145CDK70.32751603
146TAOK30.30300278
147PDK10.29319858
148UHMK10.28775748
149CAMK1G0.26798896
150TESK10.26589871
151CAMK10.25461412
152EPHB20.25097610
153CSNK1D0.23542929
154PRKCE0.23507330
155CDK30.19734251
156CSF1R0.18389386
157PAK20.17951765
158MAP4K20.17705633
159MAP3K30.16258008
160PRKACB0.15525796
161GRK70.14907415
162WNK40.12751457
163SGK10.12561022

Predicted pathways (KEGG)

RankGene SetZ-score
1Vitamin B6 metabolism_Homo sapiens_hsa007506.32748478
2Non-homologous end-joining_Homo sapiens_hsa034505.44989176
3Selenocompound metabolism_Homo sapiens_hsa004504.68539537
4Primary immunodeficiency_Homo sapiens_hsa053404.36873149
5Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001303.52116118
6Regulation of autophagy_Homo sapiens_hsa041403.10823356
7RNA polymerase_Homo sapiens_hsa030202.85574321
8Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.83588172
9Caffeine metabolism_Homo sapiens_hsa002322.69640450
10Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005122.56092513
11Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.53935473
12Nicotine addiction_Homo sapiens_hsa050332.26267560
13Fatty acid biosynthesis_Homo sapiens_hsa000612.24072457
14Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005342.21219010
15Cocaine addiction_Homo sapiens_hsa050302.20878610
16Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.14716710
17Oocyte meiosis_Homo sapiens_hsa041142.09319300
18RNA transport_Homo sapiens_hsa030131.90159384
19Amphetamine addiction_Homo sapiens_hsa050311.85772250
20Synaptic vesicle cycle_Homo sapiens_hsa047211.77937292
21Glycerophospholipid metabolism_Homo sapiens_hsa005641.76200939
22Fat digestion and absorption_Homo sapiens_hsa049751.74243216
23Cell cycle_Homo sapiens_hsa041101.74080415
24Linoleic acid metabolism_Homo sapiens_hsa005911.71175640
25Long-term potentiation_Homo sapiens_hsa047201.70872822
26Proteasome_Homo sapiens_hsa030501.70660252
27Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.67755071
28GABAergic synapse_Homo sapiens_hsa047271.66999497
29Glutamatergic synapse_Homo sapiens_hsa047241.62820396
30Morphine addiction_Homo sapiens_hsa050321.60157558
31Homologous recombination_Homo sapiens_hsa034401.55866020
32Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.53772105
33Olfactory transduction_Homo sapiens_hsa047401.52919699
34Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.48706959
35Long-term depression_Homo sapiens_hsa047301.44995826
36Mismatch repair_Homo sapiens_hsa034301.44619150
37Purine metabolism_Homo sapiens_hsa002301.40279745
38Collecting duct acid secretion_Homo sapiens_hsa049661.34857440
39alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.34792991
40* Dopaminergic synapse_Homo sapiens_hsa047281.34084851
41Gastric acid secretion_Homo sapiens_hsa049711.33336473
42Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.32914411
43Gap junction_Homo sapiens_hsa045401.32131223
44Circadian entrainment_Homo sapiens_hsa047131.28237979
45Vitamin digestion and absorption_Homo sapiens_hsa049771.27548694
46Taste transduction_Homo sapiens_hsa047421.24890883
47Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.24833632
48ABC transporters_Homo sapiens_hsa020101.20149303
49Nitrogen metabolism_Homo sapiens_hsa009101.18660220
50Cysteine and methionine metabolism_Homo sapiens_hsa002701.16630148
51Glycerolipid metabolism_Homo sapiens_hsa005611.16410143
52Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.16268431
53Propanoate metabolism_Homo sapiens_hsa006401.11705523
54Aldosterone synthesis and secretion_Homo sapiens_hsa049251.09056663
55Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.07993844
56GnRH signaling pathway_Homo sapiens_hsa049121.05107732
57* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.03839768
58Pyrimidine metabolism_Homo sapiens_hsa002401.03611550
59Butanoate metabolism_Homo sapiens_hsa006501.03132977
60Non-small cell lung cancer_Homo sapiens_hsa052231.01076088
61Peroxisome_Homo sapiens_hsa041461.01046502
62Salivary secretion_Homo sapiens_hsa049701.00320813
63Serotonergic synapse_Homo sapiens_hsa047260.98203071
64Oxytocin signaling pathway_Homo sapiens_hsa049210.98122514
65Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.97079558
66Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.96499034
67Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.95774644
68Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.95527431
69Cholinergic synapse_Homo sapiens_hsa047250.94919482
70Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.94289354
71Circadian rhythm_Homo sapiens_hsa047100.93798786
72Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.88505817
73Pentose phosphate pathway_Homo sapiens_hsa000300.87106035
74RNA degradation_Homo sapiens_hsa030180.87011667
75Tight junction_Homo sapiens_hsa045300.83901880
76Inositol phosphate metabolism_Homo sapiens_hsa005620.83894264
77Ovarian steroidogenesis_Homo sapiens_hsa049130.83506878
78Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.82188107
79Renin secretion_Homo sapiens_hsa049240.79976243
80Calcium signaling pathway_Homo sapiens_hsa040200.79925906
81Arachidonic acid metabolism_Homo sapiens_hsa005900.79217988
82Folate biosynthesis_Homo sapiens_hsa007900.78815593
83Mineral absorption_Homo sapiens_hsa049780.78187209
84Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.77906269
85Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.77168119
86Spliceosome_Homo sapiens_hsa030400.74257503
87Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.74182444
88Biosynthesis of amino acids_Homo sapiens_hsa012300.72808601
89Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.72551212
90Hematopoietic cell lineage_Homo sapiens_hsa046400.71855591
91Insulin secretion_Homo sapiens_hsa049110.70892025
92Thyroid hormone signaling pathway_Homo sapiens_hsa049190.70289553
93Phospholipase D signaling pathway_Homo sapiens_hsa040720.68473510
94Glioma_Homo sapiens_hsa052140.68010367
95N-Glycan biosynthesis_Homo sapiens_hsa005100.67586424
96cAMP signaling pathway_Homo sapiens_hsa040240.66678255
97Phototransduction_Homo sapiens_hsa047440.66026737
98mTOR signaling pathway_Homo sapiens_hsa041500.65960497
99Prion diseases_Homo sapiens_hsa050200.65413419
100Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.65024234
101Dorso-ventral axis formation_Homo sapiens_hsa043200.64985503
102Nucleotide excision repair_Homo sapiens_hsa034200.64856946
103Fanconi anemia pathway_Homo sapiens_hsa034600.64596834
104Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.64047127
105Fatty acid metabolism_Homo sapiens_hsa012120.63483786
106p53 signaling pathway_Homo sapiens_hsa041150.62599576
107mRNA surveillance pathway_Homo sapiens_hsa030150.61641077
108Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.60558465
109Estrogen signaling pathway_Homo sapiens_hsa049150.60539152
110Basal transcription factors_Homo sapiens_hsa030220.59684340
111Hippo signaling pathway_Homo sapiens_hsa043900.58853689
112ErbB signaling pathway_Homo sapiens_hsa040120.57860735
113Phosphatidylinositol signaling system_Homo sapiens_hsa040700.57031731
114Carbohydrate digestion and absorption_Homo sapiens_hsa049730.52609919
115Longevity regulating pathway - mammal_Homo sapiens_hsa042110.52211663
116Sulfur relay system_Homo sapiens_hsa041220.51262111
117Choline metabolism in cancer_Homo sapiens_hsa052310.50670846
118Drug metabolism - other enzymes_Homo sapiens_hsa009830.49349726
119Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.47378667
120cGMP-PKG signaling pathway_Homo sapiens_hsa040220.45487239
121Pyruvate metabolism_Homo sapiens_hsa006200.45015082
122Pentose and glucuronate interconversions_Homo sapiens_hsa000400.43386001
123Renal cell carcinoma_Homo sapiens_hsa052110.43381199
124Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.43008729
125Sphingolipid signaling pathway_Homo sapiens_hsa040710.42579795
126Metabolic pathways_Homo sapiens_hsa011000.42350374
127Melanogenesis_Homo sapiens_hsa049160.42084764
128One carbon pool by folate_Homo sapiens_hsa006700.41116634
129Huntingtons disease_Homo sapiens_hsa050160.39554753
130DNA replication_Homo sapiens_hsa030300.39277044
131Vascular smooth muscle contraction_Homo sapiens_hsa042700.39125556
132Arginine and proline metabolism_Homo sapiens_hsa003300.39018972
133Pancreatic secretion_Homo sapiens_hsa049720.38885005
134Renin-angiotensin system_Homo sapiens_hsa046140.38167699
135Chemical carcinogenesis_Homo sapiens_hsa052040.37299639
136Retinol metabolism_Homo sapiens_hsa008300.36965000
137beta-Alanine metabolism_Homo sapiens_hsa004100.36913555
138B cell receptor signaling pathway_Homo sapiens_hsa046620.36126358
139Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.35401700
140Tryptophan metabolism_Homo sapiens_hsa003800.34867786
141VEGF signaling pathway_Homo sapiens_hsa043700.33054208
142FoxO signaling pathway_Homo sapiens_hsa040680.32547055
143Steroid biosynthesis_Homo sapiens_hsa001000.32405748
144Protein digestion and absorption_Homo sapiens_hsa049740.32303750
145Thyroid hormone synthesis_Homo sapiens_hsa049180.31866225
146Endometrial cancer_Homo sapiens_hsa052130.31733654
147Dilated cardiomyopathy_Homo sapiens_hsa054140.31410816
148Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.30689046
149Fatty acid elongation_Homo sapiens_hsa000620.30219397
150Epstein-Barr virus infection_Homo sapiens_hsa051690.29798602
151Fatty acid degradation_Homo sapiens_hsa000710.29315315
152Rap1 signaling pathway_Homo sapiens_hsa040150.28777156
153Ether lipid metabolism_Homo sapiens_hsa005650.28116944
154Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.21174803
155Type II diabetes mellitus_Homo sapiens_hsa049300.19655035
156Base excision repair_Homo sapiens_hsa034100.19343278
157Phenylalanine metabolism_Homo sapiens_hsa003600.19276963
158Histidine metabolism_Homo sapiens_hsa003400.18169478

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