RHD

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





Description: The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene, which encodes the RhD protein, and a second gene that encodes both the RhC and RhE antigens on a single polypeptide. The two genes, and a third unrelated gene, are found in a cluster on chromosome 1. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. Multiple transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1tetrapyrrole biosynthetic process (GO:0033014)9.34133822
2heme metabolic process (GO:0042168)8.91614254
3porphyrin-containing compound metabolic process (GO:0006778)8.34124670
4erythrocyte maturation (GO:0043249)7.32847160
5erythrocyte development (GO:0048821)5.80090656
6behavioral response to nicotine (GO:0035095)5.48455208
7pigment biosynthetic process (GO:0046148)5.46700739
8tetrapyrrole metabolic process (GO:0033013)5.42978921
9one-carbon compound transport (GO:0019755)5.15331955
10DNA replication initiation (GO:0006270)4.84133275
11hemoglobin metabolic process (GO:0020027)4.83163822
12DNA strand elongation involved in DNA replication (GO:0006271)4.64477753
13oxygen transport (GO:0015671)4.62681227
14telomere maintenance via semi-conservative replication (GO:0032201)4.61289102
15DNA replication checkpoint (GO:0000076)4.56785479
16pigment metabolic process (GO:0042440)4.55976234
17response to methylmercury (GO:0051597)4.51561369
18response to lead ion (GO:0010288)4.43165740
19DNA strand elongation (GO:0022616)4.42402161
20sulfation (GO:0051923)4.42074592
21regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)4.39373300
22protein autoprocessing (GO:0016540)4.28249983
23L-fucose catabolic process (GO:0042355)4.22529017
24fucose catabolic process (GO:0019317)4.22529017
25L-fucose metabolic process (GO:0042354)4.22529017
26response to insecticide (GO:0017085)4.19726234
27protein neddylation (GO:0045116)4.03057996
28deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.97598018
29indole-containing compound catabolic process (GO:0042436)3.97024972
30indolalkylamine catabolic process (GO:0046218)3.97024972
31tryptophan catabolic process (GO:0006569)3.97024972
32indolalkylamine metabolic process (GO:0006586)3.95838583
33CENP-A containing nucleosome assembly (GO:0034080)3.94850163
34gas transport (GO:0015669)3.92975375
35folic acid-containing compound biosynthetic process (GO:0009396)3.91766554
36negative regulation of mast cell activation (GO:0033004)3.91294434
37erythrocyte differentiation (GO:0030218)3.89478335
38telomere maintenance via recombination (GO:0000722)3.87501655
39DNA deamination (GO:0045006)3.86810881
40regulation of memory T cell differentiation (GO:0043380)3.79571972
41chromatin remodeling at centromere (GO:0031055)3.75807909
42protein localization to chromosome, centromeric region (GO:0071459)3.72904640
43water-soluble vitamin biosynthetic process (GO:0042364)3.72376362
44mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.65351528
45mitochondrial respiratory chain complex I assembly (GO:0032981)3.65351528
46NADH dehydrogenase complex assembly (GO:0010257)3.65351528
47kynurenine metabolic process (GO:0070189)3.62498113
48tryptophan metabolic process (GO:0006568)3.62006506
49DNA unwinding involved in DNA replication (GO:0006268)3.61864789
50DNA replication-dependent nucleosome assembly (GO:0006335)3.60559402
51DNA replication-dependent nucleosome organization (GO:0034723)3.60559402
52kinetochore organization (GO:0051383)3.60465672
53protein localization to kinetochore (GO:0034501)3.59748644
54ribosomal small subunit assembly (GO:0000028)3.53848389
55DNA replication-independent nucleosome assembly (GO:0006336)3.53082862
56DNA replication-independent nucleosome organization (GO:0034724)3.53082862
57preassembly of GPI anchor in ER membrane (GO:0016254)3.52106723
58mitotic sister chromatid segregation (GO:0000070)3.51961994
59mitotic recombination (GO:0006312)3.51901107
60protein-cofactor linkage (GO:0018065)3.48492032
61deoxyribonucleotide biosynthetic process (GO:0009263)3.47153308
62cell proliferation in forebrain (GO:0021846)3.44855055
63negative regulation of telomere maintenance (GO:0032205)3.44635679
64platelet dense granule organization (GO:0060155)3.42796340
65attachment of spindle microtubules to kinetochore (GO:0008608)3.40571800
66myeloid cell development (GO:0061515)3.39772884
67viral transcription (GO:0019083)3.38277841
68positive regulation of cAMP-mediated signaling (GO:0043950)3.36214547
69amine catabolic process (GO:0009310)3.34800821
70cellular biogenic amine catabolic process (GO:0042402)3.34800821
71iron ion import (GO:0097286)3.33754672
72response to pheromone (GO:0019236)3.30348406
73translational termination (GO:0006415)3.29848496
74kinetochore assembly (GO:0051382)3.24307008
75meiotic chromosome segregation (GO:0045132)3.24063360
76telomere maintenance via telomere lengthening (GO:0010833)3.23935394
77proteasome assembly (GO:0043248)3.23742836
78mitotic chromosome condensation (GO:0007076)3.22523434
79regulation of response to osmotic stress (GO:0047484)3.17075219
80cofactor biosynthetic process (GO:0051188)3.15259623
81piRNA metabolic process (GO:0034587)3.10991685
82histone exchange (GO:0043486)3.09903327
83bicarbonate transport (GO:0015701)3.09263641
84translational elongation (GO:0006414)3.08852789
85negative regulation of transcription regulatory region DNA binding (GO:2000678)3.07844642
86sister chromatid segregation (GO:0000819)3.07775697
87dopamine transport (GO:0015872)3.07522900
88protein complex biogenesis (GO:0070271)3.07496942
892-deoxyribonucleotide biosynthetic process (GO:0009265)3.07098268
90deoxyribose phosphate biosynthetic process (GO:0046385)3.07098268
91nucleotide-excision repair, DNA gap filling (GO:0006297)3.06257631
92mitotic nuclear envelope disassembly (GO:0007077)3.04823153
93indole-containing compound metabolic process (GO:0042430)3.02233648
94positive regulation of insulin receptor signaling pathway (GO:0046628)3.00138416
95SRP-dependent cotranslational protein targeting to membrane (GO:0006614)2.98271551
96negative regulation of appetite (GO:0032099)2.97906566
97negative regulation of response to food (GO:0032096)2.97906566
98adaptation of signaling pathway (GO:0023058)2.97319852
99protein K11-linked deubiquitination (GO:0035871)2.95847698
100chromatin assembly or disassembly (GO:0006333)2.95084081
101regulation of action potential (GO:0098900)2.94435255
102cotranslational protein targeting to membrane (GO:0006613)2.91333639
103mitotic metaphase plate congression (GO:0007080)2.90892765
104protein targeting to ER (GO:0045047)2.90320233
105iron-sulfur cluster assembly (GO:0016226)2.89863691
106metallo-sulfur cluster assembly (GO:0031163)2.89863691
107positive regulation of chromosome segregation (GO:0051984)2.89777529
108protein polyglutamylation (GO:0018095)2.89459434
109response to arsenic-containing substance (GO:0046685)2.89122650
110gamma-aminobutyric acid transport (GO:0015812)2.87441099
111L-alpha-amino acid transmembrane transport (GO:1902475)2.87108310
112epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.87061187
113embryonic hemopoiesis (GO:0035162)2.85527837
114detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.85419763
115folic acid metabolic process (GO:0046655)2.84366772
116IMP biosynthetic process (GO:0006188)2.84303071
117regulation of sequestering of triglyceride (GO:0010889)2.82398873
118GPI anchor metabolic process (GO:0006505)2.81988625
119nuclear envelope disassembly (GO:0051081)2.81722343
120membrane disassembly (GO:0030397)2.81722343
121DNA methylation involved in gamete generation (GO:0043046)2.80704971
122negative regulation of multicellular organism growth (GO:0040015)2.80699055
123translational initiation (GO:0006413)2.79913728
124detection of light stimulus involved in sensory perception (GO:0050962)2.78344443
125detection of light stimulus involved in visual perception (GO:0050908)2.78344443
126mitochondrial respiratory chain complex assembly (GO:0033108)2.77446107
127establishment of protein localization to endoplasmic reticulum (GO:0072599)2.77375896
128negative regulation of systemic arterial blood pressure (GO:0003085)2.77077584
129cellular response to ATP (GO:0071318)2.75458307
130formation of translation preinitiation complex (GO:0001731)2.74227494
131protein localization to endoplasmic reticulum (GO:0070972)2.73450948
132pteridine-containing compound biosynthetic process (GO:0042559)2.73348908
133positive regulation of fatty acid oxidation (GO:0046321)2.72761277
134nucleosome assembly (GO:0006334)2.72556582
135male meiosis I (GO:0007141)2.70132546
136lysine metabolic process (GO:0006553)2.68057602
137lysine catabolic process (GO:0006554)2.68057602
138neuronal action potential (GO:0019228)2.67941037
139serotonin metabolic process (GO:0042428)2.67263968
140heme transport (GO:0015886)2.66565139
141nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)2.64658318
142purine ribonucleoside bisphosphate metabolic process (GO:0034035)2.64480596
1433-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)2.64480596
144regulation of collateral sprouting (GO:0048670)2.64411115
145somite development (GO:0061053)2.64022367
146metaphase plate congression (GO:0051310)2.63667952
147cellular protein complex disassembly (GO:0043624)2.63152207
148anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.61463907
149pyrimidine deoxyribonucleotide catabolic process (GO:0009223)2.60847687
150purine-containing compound salvage (GO:0043101)2.59581412
151regulation of exit from mitosis (GO:0007096)2.58451634
152ribosomal small subunit biogenesis (GO:0042274)2.57017343
153synapsis (GO:0007129)2.56993712
154neural tube formation (GO:0001841)2.56863276
155regulation of rhodopsin mediated signaling pathway (GO:0022400)2.56273487
156G1/S transition of mitotic cell cycle (GO:0000082)2.55993593
157cell cycle G1/S phase transition (GO:0044843)2.55993593
158NAD biosynthetic process (GO:0009435)2.55665566
159phosphatidylinositol acyl-chain remodeling (GO:0036149)2.55492282
160axoneme assembly (GO:0035082)2.54967105
161protein K6-linked ubiquitination (GO:0085020)2.53365895
162synaptic transmission, cholinergic (GO:0007271)2.53222890
163primary amino compound metabolic process (GO:1901160)2.52754911
164regulation of triglyceride catabolic process (GO:0010896)2.52177338
165positive regulation of inositol phosphate biosynthetic process (GO:0060732)2.50079964
166regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450912.48335293
167parturition (GO:0007567)2.47712893
168positive regulation of triglyceride biosynthetic process (GO:0010867)2.47444836
169rhodopsin mediated signaling pathway (GO:0016056)2.46533459
170replication fork processing (GO:0031297)2.45459456
171S-adenosylmethionine metabolic process (GO:0046500)2.43434577
172double-strand break repair via homologous recombination (GO:0000724)2.42897482
173recombinational repair (GO:0000725)2.42633924
174tachykinin receptor signaling pathway (GO:0007217)2.40738619
175DNA demethylation (GO:0080111)2.40422230
176killing of cells of other organism (GO:0031640)2.39708312
177disruption of cells of other organism (GO:0044364)2.39708312
178positive regulation of oligodendrocyte differentiation (GO:0048714)2.39384967
179negative regulation of synaptic transmission, GABAergic (GO:0032229)2.38371509
180negative regulation of macrophage derived foam cell differentiation (GO:0010745)2.38365554
181negative regulation of hematopoietic progenitor cell differentiation (GO:1901533)2.38011429
182photoreceptor cell development (GO:0042461)2.38006992
183cerebellar Purkinje cell differentiation (GO:0021702)2.35937131
184cellular ketone body metabolic process (GO:0046950)2.35407987
185cytidine metabolic process (GO:0046087)2.35351744
186cytidine catabolic process (GO:0006216)2.35351744
187cytidine deamination (GO:0009972)2.35351744
188rRNA catabolic process (GO:0016075)2.35256673
189membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.33580477
190epithelial cilium movement (GO:0003351)2.33209993
191multicellular organism reproduction (GO:0032504)2.31702554
192protoporphyrinogen IX metabolic process (GO:0046501)14.8982973
193protoporphyrinogen IX biosynthetic process (GO:0006782)14.3992641
194heme biosynthetic process (GO:0006783)11.2153519
195porphyrin-containing compound biosynthetic process (GO:0006779)10.4371200

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human8.80077350
2* EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse5.72581284
3FOXM1_23109430_ChIP-Seq_U2OS_Human4.31212532
4E2F4_17652178_ChIP-ChIP_JURKAT_Human3.64359987
5EZH2_22144423_ChIP-Seq_EOC_Human3.62170722
6MYC_18555785_ChIP-Seq_MESCs_Mouse3.47003112
7ZNF274_21170338_ChIP-Seq_K562_Hela3.40646820
8VDR_22108803_ChIP-Seq_LS180_Human3.40303343
9GATA1_22025678_ChIP-Seq_K562_Human3.23715229
10FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human3.08032962
11KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.98359696
12GBX2_23144817_ChIP-Seq_PC3_Human2.92985462
13* TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse2.57112689
14EST1_17652178_ChIP-ChIP_JURKAT_Human2.53763067
15MYC_18358816_ChIP-ChIP_MESCs_Mouse2.52554512
16JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.51408366
17GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.51348514
18ETS1_20019798_ChIP-Seq_JURKAT_Human2.48279767
19GABP_17652178_ChIP-ChIP_JURKAT_Human2.46189109
20IGF1R_20145208_ChIP-Seq_DFB_Human2.42223348
21CREB1_15753290_ChIP-ChIP_HEK293T_Human2.37181916
22GATA1_19941827_ChIP-Seq_MEL_Mouse2.23749336
23* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.23352975
24GATA1_19941826_ChIP-Seq_K562_Human2.20483125
25POU3F2_20337985_ChIP-ChIP_501MEL_Human2.17941049
26ZFP57_27257070_Chip-Seq_ESCs_Mouse2.13199888
27MYC_19079543_ChIP-ChIP_MESCs_Mouse2.12852116
28KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse2.09797724
29AR_21909140_ChIP-Seq_LNCAP_Human2.06466570
30HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.05590150
31VDR_23849224_ChIP-Seq_CD4+_Human2.04041674
32EWS_26573619_Chip-Seq_HEK293_Human2.03802832
33E2F1_21310950_ChIP-Seq_MCF-7_Human2.02678707
34NELFA_20434984_ChIP-Seq_ESCs_Mouse2.01317885
35EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.99989659
36GATA1_22383799_ChIP-Seq_G1ME_Mouse1.99541124
37IRF1_19129219_ChIP-ChIP_H3396_Human1.99214511
38CTBP2_25329375_ChIP-Seq_LNCAP_Human1.97605425
39ER_23166858_ChIP-Seq_MCF-7_Human1.97041122
40FUS_26573619_Chip-Seq_HEK293_Human1.94944753
41GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.93669060
42* SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.93618882
43THAP11_20581084_ChIP-Seq_MESCs_Mouse1.93306723
44NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.93073646
45XRN2_22483619_ChIP-Seq_HELA_Human1.92973480
46TAF15_26573619_Chip-Seq_HEK293_Human1.88493335
47TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.87879995
48DCP1A_22483619_ChIP-Seq_HELA_Human1.84829869
49E2F1_18555785_ChIP-Seq_MESCs_Mouse1.80796691
50ELF1_17652178_ChIP-ChIP_JURKAT_Human1.80558503
51CTBP1_25329375_ChIP-Seq_LNCAP_Human1.78526777
52SCL_19346495_ChIP-Seq_HPC-7_Human1.77870817
53P300_19829295_ChIP-Seq_ESCs_Human1.75058497
54SRF_21415370_ChIP-Seq_HL-1_Mouse1.74769372
55SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.74531831
56FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.74433065
57CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.72020807
58HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.71477215
59FOXP3_21729870_ChIP-Seq_TREG_Human1.70313271
60FLI1_27457419_Chip-Seq_LIVER_Mouse1.69626563
61GABP_19822575_ChIP-Seq_HepG2_Human1.68898411
62RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.66290199
63MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.65495950
64CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.65292454
65MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.64306811
66TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.62082762
67BCAT_22108803_ChIP-Seq_LS180_Human1.54240077
68TP53_22573176_ChIP-Seq_HFKS_Human1.52202357
69NOTCH1_21737748_ChIP-Seq_TLL_Human1.51485630
70AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.50933289
71MYC_22102868_ChIP-Seq_BL_Human1.50755707
72HOXB4_20404135_ChIP-ChIP_EML_Mouse1.49094711
73MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.47807766
74MYCN_18555785_ChIP-Seq_MESCs_Mouse1.47756865
75UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.47207630
76PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.47044029
77ERG_20887958_ChIP-Seq_HPC-7_Mouse1.46830483
78BMI1_23680149_ChIP-Seq_NPCS_Mouse1.45178892
79TTF2_22483619_ChIP-Seq_HELA_Human1.44460941
80STAT3_23295773_ChIP-Seq_U87_Human1.41001819
81ZFX_18555785_ChIP-Seq_MESCs_Mouse1.40828357
82PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.37969129
83TCF4_23295773_ChIP-Seq_U87_Human1.35670443
84LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.35514250
85* MYC_18940864_ChIP-ChIP_HL60_Human1.33903551
86FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.33399884
87FOXA1_25329375_ChIP-Seq_VCAP_Human1.32423851
88FOXA1_27270436_Chip-Seq_PROSTATE_Human1.32423851
89PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.31957792
90FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.31802631
91SMAD4_21799915_ChIP-Seq_A2780_Human1.31795615
92KDM5A_27292631_Chip-Seq_BREAST_Human1.31591714
93STAT6_21828071_ChIP-Seq_BEAS2B_Human1.31495342
94SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.30828949
95CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.30103063
96AR_25329375_ChIP-Seq_VCAP_Human1.29168995
97E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.28258221
98ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.27983033
99CBX2_27304074_Chip-Seq_ESCs_Mouse1.27728239
100GATA3_21878914_ChIP-Seq_MCF-7_Human1.27271995
101IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.26942282
102CBP_20019798_ChIP-Seq_JUKART_Human1.26942282
103SALL1_21062744_ChIP-ChIP_HESCs_Human1.26480555
104YY1_21170310_ChIP-Seq_MESCs_Mouse1.25888687
105PCGF2_27294783_Chip-Seq_ESCs_Mouse1.25388968
106MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.25124366
107ELK1_19687146_ChIP-ChIP_HELA_Human1.23516771
108MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.22721602
109CIITA_25753668_ChIP-Seq_RAJI_Human1.22414510
110RNF2_27304074_Chip-Seq_NSC_Mouse1.22080909
111NCOR_22424771_ChIP-Seq_293T_Human1.22034119
112EGR1_23403033_ChIP-Seq_LIVER_Mouse1.21595019
113PRDM14_20953172_ChIP-Seq_ESCs_Human1.21537503
114REST_21632747_ChIP-Seq_MESCs_Mouse1.21512872
115SOX2_19829295_ChIP-Seq_ESCs_Human1.21508751
116NANOG_19829295_ChIP-Seq_ESCs_Human1.21508751
117VDR_21846776_ChIP-Seq_THP-1_Human1.21478107
118CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.20577588
119SUZ12_27294783_Chip-Seq_NPCs_Mouse1.20527815
120AUTS2_25519132_ChIP-Seq_293T-REX_Human1.19857414
121ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.17265521
122ETV2_25802403_ChIP-Seq_MESCs_Mouse1.17052517
123ZNF263_19887448_ChIP-Seq_K562_Human1.15750188
124EZH2_27294783_Chip-Seq_NPCs_Mouse1.15554873
125PIAS1_25552417_ChIP-Seq_VCAP_Human1.15268350
126SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.14691891
127NR3C1_21868756_ChIP-Seq_MCF10A_Human1.14688176
128NFE2_27457419_Chip-Seq_LIVER_Mouse1.14606544
129TOP2B_26459242_ChIP-Seq_MCF-7_Human1.14336867
130SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.13518332
131FLI1_21867929_ChIP-Seq_TH2_Mouse1.12368983
132GATA2_19941826_ChIP-Seq_K562_Human1.12209390
133GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.12109686
134FOXA1_21572438_ChIP-Seq_LNCaP_Human1.11664672
135TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.11559660
136CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.11478635
137NANOG_18555785_ChIP-Seq_MESCs_Mouse1.11474722
138SMAD4_21741376_ChIP-Seq_EPCs_Human1.11473942
139CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.10691735
140YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.10607863
141AR_20517297_ChIP-Seq_VCAP_Human1.09785391
142POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.09700370
143TFEB_21752829_ChIP-Seq_HELA_Human1.08267170
144ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.07409108
145TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.07284985
146POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.07284985
147HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.07015691
148* TDRD3_21172665_ChIP-Seq_MCF-7_Human1.06041613
149CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.05269613
150CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.04457886
151NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.04073392
152* POU5F1_16153702_ChIP-ChIP_HESCs_Human1.03483600
153RUNX2_22187159_ChIP-Seq_PCA_Human1.03239554
154TCF4_22108803_ChIP-Seq_LS180_Human1.02541620
155CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.02097326
156TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.01869891
157CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.01648498
158CRX_20693478_ChIP-Seq_RETINA_Mouse1.01102987
159EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.00914620
160TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.99911820
161SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.99844202
162P53_22387025_ChIP-Seq_ESCs_Mouse0.99621335
163CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.99369184
164DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.99342014
165PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.98770866
166GATA2_22383799_ChIP-Seq_G1ME_Mouse0.98677242
167NANOG_18555785_Chip-Seq_ESCs_Mouse0.98563768
168EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.96991623
169KLF5_20875108_ChIP-Seq_MESCs_Mouse0.96959019
170HOXB7_26014856_ChIP-Seq_BT474_Human0.96658162
171TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.96553066
172* ETV1_20927104_ChIP-Seq_GIST48_Human0.96276622
173* TAL1_26923725_Chip-Seq_HPCs_Mouse0.95802109
174CDX2_22108803_ChIP-Seq_LS180_Human0.95548909
175KLF4_18555785_ChIP-Seq_MESCs_Mouse0.95081131
176PADI4_21655091_ChIP-ChIP_MCF-7_Human0.95074296
177HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.93905175
178BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.93780068
179MECOM_23826213_ChIP-Seq_KASUMI_Mouse0.93461551
180STAT3_1855785_ChIP-Seq_MESCs_Mouse0.91983764
181TBX5_21415370_ChIP-Seq_HL-1_Mouse0.85245782
182SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.83235086
183CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.82131976
184CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.81420094
185CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.80425993
186HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.80176329
187SRY_22984422_ChIP-ChIP_TESTIS_Rat0.79386465
188ELF1_20517297_ChIP-Seq_JURKAT_Human0.78732277
189GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.77854641
190FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.70841825
191EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.70711317
192SMAD1_18555785_ChIP-Seq_MESCs_Mouse0.70653337

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003111_abnormal_nucleus_morphology3.80866052
2MP0003693_abnormal_embryo_hatching3.59352480
3MP0010094_abnormal_chromosome_stability3.42554672
4MP0006054_spinal_hemorrhage3.32585263
5MP0004957_abnormal_blastocyst_morpholog2.86891362
6MP0003077_abnormal_cell_cycle2.84423112
7MP0005646_abnormal_pituitary_gland2.71040695
8MP0005397_hematopoietic_system_phenotyp2.63420972
9MP0001545_abnormal_hematopoietic_system2.63420972
10MP0006292_abnormal_olfactory_placode2.62803636
11MP0008057_abnormal_DNA_replication2.58309510
12MP0003806_abnormal_nucleotide_metabolis2.42548028
13MP0001968_abnormal_touch/_nociception2.13212743
14MP0008058_abnormal_DNA_repair2.11097634
15MP0004885_abnormal_endolymph2.10911519
16MP0002653_abnormal_ependyma_morphology2.09729995
17MP0005636_abnormal_mineral_homeostasis2.08693105
18MP0003011_delayed_dark_adaptation2.07494834
19MP0001485_abnormal_pinna_reflex2.06771309
20MP0005551_abnormal_eye_electrophysiolog2.02746629
21MP0006036_abnormal_mitochondrial_physio2.00427501
22MP0003656_abnormal_erythrocyte_physiolo10.5105235
23MP0004147_increased_porphyrin_level10.0513458
24MP0003195_calcinosis1.89468822
25MP0002876_abnormal_thyroid_physiology1.89291761
26MP0002736_abnormal_nociception_after1.86052993
27MP0000569_abnormal_digit_pigmentation1.85442844
28MP0001986_abnormal_taste_sensitivity1.83954351
29MP0002396_abnormal_hematopoietic_system1.82148558
30MP0004142_abnormal_muscle_tone1.80456717
31MP0000490_abnormal_crypts_of1.78579663
32MP0005083_abnormal_biliary_tract1.75690025
33MP0000631_abnormal_neuroendocrine_gland1.75456485
34MP0002837_dystrophic_cardiac_calcinosis1.75259725
35MP0009046_muscle_twitch1.72984366
36MP0003724_increased_susceptibility_to1.70125393
37MP0009745_abnormal_behavioral_response1.69599030
38MP0004145_abnormal_muscle_electrophysio1.69595432
39MP0003186_abnormal_redox_activity1.69310900
40MP0002160_abnormal_reproductive_system1.67250998
41MP0004130_abnormal_muscle_cell1.62627450
42MP0002272_abnormal_nervous_system1.60827503
43MP0005174_abnormal_tail_pigmentation1.58486692
44MP0000015_abnormal_ear_pigmentation1.55243606
45MP0004215_abnormal_myocardial_fiber1.53048723
46MP0005084_abnormal_gallbladder_morpholo1.53000699
47MP0005389_reproductive_system_phenotype1.51860975
48MP0003136_yellow_coat_color1.50419682
49MP0000372_irregular_coat_pigmentation1.47899099
50MP0008775_abnormal_heart_ventricle1.43530496
51MP0009333_abnormal_splenocyte_physiolog1.40447377
52MP0002132_abnormal_respiratory_system1.39932898
53MP0004133_heterotaxia1.39756357
54MP0008995_early_reproductive_senescence1.39383592
55MP0002638_abnormal_pupillary_reflex1.37969434
56MP0006276_abnormal_autonomic_nervous1.37747715
57MP0000350_abnormal_cell_proliferation1.37377539
58MP0008932_abnormal_embryonic_tissue1.36541558
59MP0003787_abnormal_imprinting1.36330900
60MP0002163_abnormal_gland_morphology1.36111227
61MP0005645_abnormal_hypothalamus_physiol1.35917375
62MP0005377_hearing/vestibular/ear_phenot1.34826928
63MP0003878_abnormal_ear_physiology1.34826928
64MP0005253_abnormal_eye_physiology1.34549551
65MP0006072_abnormal_retinal_apoptosis1.33334061
66MP0002733_abnormal_thermal_nociception1.33074781
67MP0008007_abnormal_cellular_replicative1.32439588
68MP0010307_abnormal_tumor_latency1.26124183
69MP0002398_abnormal_bone_marrow1.25944473
70MP0002277_abnormal_respiratory_mucosa1.25630454
71MP0001730_embryonic_growth_arrest1.19372974
72MP0001970_abnormal_pain_threshold1.19199248
73MP0000313_abnormal_cell_death1.18569609
74MP0001486_abnormal_startle_reflex1.18061034
75MP0000230_abnormal_systemic_arterial1.14774707
76MP0000689_abnormal_spleen_morphology1.14163687
77MP0004742_abnormal_vestibular_system1.13360058
78MP0002722_abnormal_immune_system1.13059450
79MP0002064_seizures1.08908287
80MP0003718_maternal_effect1.07832184
81MP0002928_abnormal_bile_duct1.07750962
82MP0001529_abnormal_vocalization1.07735855
83MP0002019_abnormal_tumor_incidence1.06511273
84MP0008875_abnormal_xenobiotic_pharmacok1.05623794
85MP0001919_abnormal_reproductive_system1.05269331
86MP0002735_abnormal_chemical_nociception1.04324872
87MP0000749_muscle_degeneration1.02128131
88MP0005075_abnormal_melanosome_morpholog1.01809785
89MP0005410_abnormal_fertilization0.98935522
90MP0005379_endocrine/exocrine_gland_phen0.98732491
91MP0002080_prenatal_lethality0.98684212
92MP0000049_abnormal_middle_ear0.98291257
93MP0002429_abnormal_blood_cell0.98131698
94MP0001501_abnormal_sleep_pattern0.97137479
95MP0008872_abnormal_physiological_respon0.94970987
96MP0000427_abnormal_hair_cycle0.93203736
97MP0003638_abnormal_response/metabolism_0.90784463
98MP0004134_abnormal_chest_morphology0.89691065
99MP0008877_abnormal_DNA_methylation0.89248691
100MP0002067_abnormal_sensory_capabilities0.89010071
101MP0005670_abnormal_white_adipose0.87007398
102MP0002139_abnormal_hepatobiliary_system0.86386435
103MP0003879_abnormal_hair_cell0.86268469
104MP0005195_abnormal_posterior_eye0.86234912
105MP0002572_abnormal_emotion/affect_behav0.85390405
106MP0001764_abnormal_homeostasis0.84970050
107MP0002938_white_spotting0.83825556
108MP0006035_abnormal_mitochondrial_morpho0.83509088
109MP0002557_abnormal_social/conspecific_i0.82196933
110MP0001697_abnormal_embryo_size0.81640859
111MP0009931_abnormal_skin_appearance0.80764686
112MP0000685_abnormal_immune_system0.80539918
113MP0003635_abnormal_synaptic_transmissio0.80392706
114MP0000703_abnormal_thymus_morphology0.80010548
115MP0000358_abnormal_cell_content/0.79823743
116MP0003786_premature_aging0.79474808
117MP0003123_paternal_imprinting0.79363143
118MP0005167_abnormal_blood-brain_barrier0.77456976
119MP0001963_abnormal_hearing_physiology0.77068322
120MP0005171_absent_coat_pigmentation0.76567521
121MP0003119_abnormal_digestive_system0.75942178
122MP0004043_abnormal_pH_regulation0.75930421
123MP0001905_abnormal_dopamine_level0.74627439
124MP0003698_abnormal_male_reproductive0.74533973
125MP0003880_abnormal_central_pattern0.74283715
126MP0005501_abnormal_skin_physiology0.74179851
127MP0002751_abnormal_autonomic_nervous0.73562282
128MP0002229_neurodegeneration0.73156818
129MP0002752_abnormal_somatic_nervous0.71976121
130MP0005464_abnormal_platelet_physiology0.71270417
131MP0000026_abnormal_inner_ear0.70757944
132MP0000609_abnormal_liver_physiology0.69566582
133MP0004808_abnormal_hematopoietic_stem0.68267475
134MP0002086_abnormal_extraembryonic_tissu0.67144870
135MP0005380_embryogenesis_phenotype0.64239173
136MP0001672_abnormal_embryogenesis/_devel0.64239173
137MP0001243_abnormal_dermal_layer0.63258455
138MP0000598_abnormal_liver_morphology0.62701124
139MP0008789_abnormal_olfactory_epithelium0.59665047
140MP0003984_embryonic_growth_retardation0.59354395
141MP0008770_decreased_survivor_rate0.58745207
142MP0005384_cellular_phenotype0.58212399
143MP0005266_abnormal_metabolism0.57952302
144MP0003646_muscle_fatigue0.56652944
145MP0003567_abnormal_fetal_cardiomyocyte0.55919956
146MP0001929_abnormal_gametogenesis0.55889521
147MP0002088_abnormal_embryonic_growth/wei0.55274302
148MP0009764_decreased_sensitivity_to0.53782328
149MP0005621_abnormal_cell_physiology0.53560106
150MP0002210_abnormal_sex_determination0.52122378
151MP0009643_abnormal_urine_homeostasis0.50998603
152MP0002138_abnormal_hepatobiliary_system0.50559603
153MP0005671_abnormal_response_to0.50248760
154MP0010352_gastrointestinal_tract_polyps0.50219635
155MP0000653_abnormal_sex_gland0.49627618
156MP0005376_homeostasis/metabolism_phenot0.49081524
157MP0005319_abnormal_enzyme/_coenzyme0.48377841
158MP0002095_abnormal_skin_pigmentation0.48187212
159MP0000716_abnormal_immune_system0.47910675
160MP0001145_abnormal_male_reproductive0.46440039
161MP0009763_increased_sensitivity_to0.45337213
162MP0002877_abnormal_melanocyte_morpholog0.44466783
163MP0002102_abnormal_ear_morphology0.43903120
164MP0005394_taste/olfaction_phenotype0.43825851
165MP0005499_abnormal_olfactory_system0.43825851
166MP0008260_abnormal_autophagy0.43672274
167MP0001663_abnormal_digestive_system0.42765706
168MP0004197_abnormal_fetal_growth/weight/0.41025894
169MP0008469_abnormal_protein_level0.40395987
170MP0002085_abnormal_embryonic_tissue0.39626332
171MP0005584_abnormal_enzyme/coenzyme_acti0.39217199
172MP0009765_abnormal_xenobiotic_induced0.38868748
173MP0003699_abnormal_female_reproductive0.38795105
174MP0002405_respiratory_system_inflammati0.38321161
175MP0001853_heart_inflammation0.37879095
176MP0005085_abnormal_gallbladder_physiolo0.37722578
177MP0001915_intracranial_hemorrhage0.36577220
178MP0002970_abnormal_white_adipose0.35414813

Predicted human phenotypes

RankGene SetZ-score
1Acanthocytosis (HP:0001927)7.16232121
2Reticulocytosis (HP:0001923)7.13533381
3Abnormal number of erythroid precursors (HP:0012131)6.53285370
4Abnormality of cells of the erythroid lineage (HP:0012130)6.18132632
5Hypochromic microcytic anemia (HP:0004840)5.94809063
6Diaphragmatic weakness (HP:0009113)5.80196909
7Abnormality of reticulocytes (HP:0004312)5.47155598
8Cholelithiasis (HP:0001081)5.19936644
9Birth length less than 3rd percentile (HP:0003561)5.07389615
10Hyperbilirubinemia (HP:0002904)5.06036339
11Paralysis (HP:0003470)5.04950982
12Abnormal gallbladder morphology (HP:0012437)4.70947004
13Insomnia (HP:0100785)4.32013163
14Pancreatic cysts (HP:0001737)4.21301574
15Ileus (HP:0002595)4.03780628
16Pendular nystagmus (HP:0012043)4.03729305
17Pancreatic fibrosis (HP:0100732)4.01629148
18True hermaphroditism (HP:0010459)3.89257628
19Increased serum ferritin (HP:0003281)3.87091706
20Cutaneous photosensitivity (HP:0000992)3.82047210
21Genetic anticipation (HP:0003743)3.79066654
22Osteomalacia (HP:0002749)3.54285744
23Abnormal gallbladder physiology (HP:0012438)3.45687743
24Cholecystitis (HP:0001082)3.45687743
25Abnormality of iron homeostasis (HP:0011031)3.43340664
26Microcytic anemia (HP:0001935)3.43048970
27Molar tooth sign on MRI (HP:0002419)3.39620044
28Abnormality of midbrain morphology (HP:0002418)3.39620044
29Congenital stationary night blindness (HP:0007642)3.36185923
30Progressive cerebellar ataxia (HP:0002073)3.31635250
31Hypochromic anemia (HP:0001931)3.30968083
32Abolished electroretinogram (ERG) (HP:0000550)3.28837830
33Abnormality of the gallbladder (HP:0005264)3.27179803
34Abnormality of transition element cation homeostasis (HP:0011030)3.22863459
35Abnormal hemoglobin (HP:0011902)3.22831587
36Polycythemia (HP:0001901)3.19083881
37Nausea (HP:0002018)3.11606142
38Pallor (HP:0000980)3.05862856
39Decreased central vision (HP:0007663)2.91896700
40Nephronophthisis (HP:0000090)2.91241811
41Hepatocellular carcinoma (HP:0001402)2.88240175
42Abnormality of the renal cortex (HP:0011035)2.87524288
43Macrocytic anemia (HP:0001972)2.82720912
44Petechiae (HP:0000967)2.71200723
45Breast hypoplasia (HP:0003187)2.70765261
46Type II lissencephaly (HP:0007260)2.66479836
47Gaze-evoked nystagmus (HP:0000640)2.64925463
48Keratoconus (HP:0000563)2.64357100
49Increased corneal curvature (HP:0100692)2.64357100
50Cystic liver disease (HP:0006706)2.62152816
51Absent rod-and cone-mediated responses on ERG (HP:0007688)2.61820382
52Hyponatremia (HP:0002902)2.60887104
53Decreased activity of mitochondrial respiratory chain (HP:0008972)2.56402150
54Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.56402150
55Abnormality of the renal medulla (HP:0100957)2.52443046
56Reticulocytopenia (HP:0001896)2.51372871
573-Methylglutaconic aciduria (HP:0003535)2.45622204
58Attenuation of retinal blood vessels (HP:0007843)2.45175394
59Congenital sensorineural hearing impairment (HP:0008527)2.43995160
60Abnormal rod and cone electroretinograms (HP:0008323)2.43690735
61Hypoplasia of the capital femoral epiphysis (HP:0003090)2.43049848
62Short middle phalanx of the 5th finger (HP:0004220)2.42724908
63Absent/shortened dynein arms (HP:0200106)2.36839030
64Dynein arm defect of respiratory motile cilia (HP:0012255)2.36839030
65Methylmalonic acidemia (HP:0002912)2.34689234
66Renal cortical cysts (HP:0000803)2.33053031
67Chorioretinal atrophy (HP:0000533)2.30909861
68Severe visual impairment (HP:0001141)2.30550536
69Abnormality of sodium homeostasis (HP:0010931)2.30357858
70Anencephaly (HP:0002323)2.29692448
71Furrowed tongue (HP:0000221)2.29052981
72Sclerocornea (HP:0000647)2.27926711
73Congenital, generalized hypertrichosis (HP:0004540)2.26235755
74Chronic hepatic failure (HP:0100626)2.24945595
75Delusions (HP:0000746)2.24323674
76Medial flaring of the eyebrow (HP:0010747)2.24000190
77Abnormality of DNA repair (HP:0003254)2.20928682
78Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.20491913
79Aplastic anemia (HP:0001915)2.18207284
80Abnormality of the renal collecting system (HP:0004742)2.14525356
81Onycholysis (HP:0001806)2.14403510
82Progressive macrocephaly (HP:0004481)2.14044801
83Prolonged bleeding time (HP:0003010)2.13798340
84Absent thumb (HP:0009777)2.13032643
85Cerebral palsy (HP:0100021)2.12947153
86Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.12920985
87Abnormality of alanine metabolism (HP:0010916)2.12920985
88Hyperalaninemia (HP:0003348)2.12920985
89Aplasia/Hypoplasia of the spleen (HP:0010451)2.12265947
90Male pseudohermaphroditism (HP:0000037)2.11924055
91Ectopic kidney (HP:0000086)2.10745805
92Aplasia/Hypoplasia of the uvula (HP:0010293)2.08901710
93Agitation (HP:0000713)2.05347302
94Asplenia (HP:0001746)2.04863136
95Oral leukoplakia (HP:0002745)2.04241210
96Abnormal drinking behavior (HP:0030082)2.00588640
97Polydipsia (HP:0001959)2.00588640
98Nonimmune hydrops fetalis (HP:0001790)2.00317973
99Abnormality of homocysteine metabolism (HP:0010919)2.00269450
100Homocystinuria (HP:0002156)2.00269450
101Abnormality of the heme biosynthetic pathway (HP:0010472)15.8239177
102Poikilocytosis (HP:0004447)10.0868232
103Thyroid-stimulating hormone excess (HP:0002925)1.99812064
104Febrile seizures (HP:0002373)1.99496788
105Global brain atrophy (HP:0002283)1.99412892
106Increased serum lactate (HP:0002151)1.99295538
107Hypertensive crisis (HP:0100735)1.96908394
108Absent epiphyses (HP:0010577)1.95144665
109Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.95144665
110Congenital hepatic fibrosis (HP:0002612)1.95105352
111Hepatocellular necrosis (HP:0001404)1.93961345
112Hyperventilation (HP:0002883)1.93458752
113Acute necrotizing encephalopathy (HP:0006965)1.93231567
114Optic nerve hypoplasia (HP:0000609)1.91942172
115Abnormal mitochondria in muscle tissue (HP:0008316)1.91766386
116Tubular atrophy (HP:0000092)1.91601480
117Short 1st metacarpal (HP:0010034)1.91318689
118Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)1.91318689
119Irregular epiphyses (HP:0010582)1.90809473
120Patellar aplasia (HP:0006443)1.90039924
121Decreased electroretinogram (ERG) amplitude (HP:0000654)1.87889555
122Bony spicule pigmentary retinopathy (HP:0007737)1.86850349
123Abnormal respiratory motile cilium morphology (HP:0005938)1.86174600
124Abnormal respiratory epithelium morphology (HP:0012253)1.86174600
125Mitochondrial inheritance (HP:0001427)1.85650126
126Aplasia/Hypoplasia of the tongue (HP:0010295)1.84917858
127Small hand (HP:0200055)1.83114658
128Stomatitis (HP:0010280)1.82580079
129Abnormal ciliary motility (HP:0012262)1.81630829
130Methylmalonic aciduria (HP:0012120)1.81464089
131Hepatic necrosis (HP:0002605)1.81386959
132Epistaxis (HP:0000421)1.79185697
133Inability to walk (HP:0002540)1.78869884
134Chromsome breakage (HP:0040012)1.77658469
135Increased CSF lactate (HP:0002490)1.77152820
136Generalized hyperpigmentation (HP:0007440)1.76596031
137Stomach cancer (HP:0012126)1.75060132
138Confusion (HP:0001289)1.74521432
139Multiple enchondromatosis (HP:0005701)1.72699829
140Concave nail (HP:0001598)1.72609314
141Aplasia/Hypoplasia of the patella (HP:0006498)1.72319834
142Basal cell carcinoma (HP:0002671)1.72248254
143Hypoplasia of the pons (HP:0012110)1.72166517
144Cerebral hypomyelination (HP:0006808)1.71751133
145Aplasia/Hypoplasia of the tibia (HP:0005772)1.71179332
146Progressive inability to walk (HP:0002505)1.71031690
147Duodenal stenosis (HP:0100867)1.70982128
148Small intestinal stenosis (HP:0012848)1.70982128
149Abnormality of the pons (HP:0007361)1.69739415
150Chromosomal breakage induced by crosslinking agents (HP:0003221)1.69549086
151Microretrognathia (HP:0000308)1.69401006
152Secondary amenorrhea (HP:0000869)1.67899355
153Cafe-au-lait spot (HP:0000957)1.66166942
154Abnormality of the ileum (HP:0001549)1.66012574
155Duplicated collecting system (HP:0000081)1.65912694
156Hemiparesis (HP:0001269)1.65271848
157Hypoplastic iliac wings (HP:0002866)1.65035754
158Myelodysplasia (HP:0002863)1.64886050
159Lissencephaly (HP:0001339)1.64882762
160Postaxial foot polydactyly (HP:0001830)1.64765341
161Tachypnea (HP:0002789)1.63447068
162Severe muscular hypotonia (HP:0006829)1.63303712
163Abnormality of the 1st metacarpal (HP:0010009)1.62967031
164Acute encephalopathy (HP:0006846)1.62870521
165Aplasia/Hypoplasia of the sacrum (HP:0008517)1.61573935
166Urticaria (HP:0001025)1.60446293
167Slender long bone (HP:0003100)1.60313322
168Abnormality of the preputium (HP:0100587)1.58969022
169Abnormality of chromosome stability (HP:0003220)1.58619073
170Hypopigmented skin patches (HP:0001053)1.57188808
171Increased intramyocellular lipid droplets (HP:0012240)1.56311734
172Abnormality of dental color (HP:0011073)1.54384476
173Broad palm (HP:0001169)1.53946169
174Abnormal spermatogenesis (HP:0008669)1.53224121
175Lower limb hyperreflexia (HP:0002395)1.52750860
176Carpal bone hypoplasia (HP:0001498)1.51818492
177Meckel diverticulum (HP:0002245)1.50944617
178Exertional dyspnea (HP:0002875)1.49577495
179Lactic acidosis (HP:0003128)1.47271761
180Azoospermia (HP:0000027)1.46589074
181Autoimmune thrombocytopenia (HP:0001973)1.45384766
182Lipid accumulation in hepatocytes (HP:0006561)1.45137418
183Abnormal blistering of the skin (HP:0008066)1.45114669
184Neoplasm of the liver (HP:0002896)1.44281633
185Selective tooth agenesis (HP:0001592)1.43858142
186Increased hepatocellular lipid droplets (HP:0006565)1.43781832

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EIF2AK16.65046218
2FRK5.25106283
3CDC74.44125058
4NME23.79917647
5ADRBK23.67192998
6BUB13.41417427
7TLK13.15548231
8GRK13.13045619
9VRK12.83241266
10WEE12.81792657
11PINK12.66346581
12BRSK12.56718269
13MAP4K22.45966772
14NEK22.40745783
15BMPR1B2.37859874
16STK42.19541665
17DYRK32.17701128
18NUAK12.16455695
19WNK32.11162874
20SCYL22.00055531
21BRSK21.95840887
22STK101.94282648
23TXK1.92355739
24NEK11.92048069
25MAPK131.90468488
26STK161.78928944
27TTK1.77311868
28AURKB1.68547683
29WNK41.68338125
30EEF2K1.66092784
31INSRR1.64798408
32AURKA1.64755106
33PLK11.61788238
34OXSR11.52621357
35MAP3K81.49431638
36ZAK1.39367955
37SRPK11.35111608
38PBK1.32833481
39MAP3K111.30795051
40CHEK21.28962999
41MAP3K41.27530240
42ACVR1B1.27451075
43PTK2B1.24191909
44TNIK1.23666274
45ATR1.23600631
46DAPK21.22883007
47TEC1.21210551
48ADRBK11.20965469
49MAPKAPK51.19115378
50MAP3K101.17894547
51CDK41.13872601
52PIM11.12920795
53MAPKAPK31.11549168
54EIF2AK31.10376040
55MAPK111.10201940
56FLT31.09071221
57PAK31.07049931
58PLK41.06173653
59CDK121.05629880
60PLK21.05617190
61IKBKB1.01569725
62TIE11.00960076
63ABL21.00870714
64KDR0.99656670
65RPS6KA50.97971897
66CDK70.97017986
67CHEK10.96546881
68NME10.94717656
69RPS6KB20.94572264
70CASK0.92813878
71MKNK20.91605361
72MAP2K60.91153314
73PIK3CA0.89918535
74ATM0.89705713
75PRKCG0.88604274
76TNK20.88426049
77RPS6KA40.87856889
78CCNB10.82631497
79CAMKK20.82398581
80CDK80.81061418
81LRRK20.79164031
82STK30.78329916
83TRIM280.77806764
84JAK20.74821095
85GRK60.74080363
86PLK30.70689048
87PRKCQ0.69487363
88PIM20.68885440
89STK390.68712926
90BTK0.68563475
91BRAF0.66414089
92CSNK1G20.66284895
93PRKCE0.65547275
94MAP2K70.64416309
95PKN10.63874461
96NTRK30.63836093
97CDK190.63290905
98ITK0.62383281
99MAP4K10.60868989
100CSNK2A10.60551391
101TAOK10.60238865
102STK110.59686404
103RIPK40.59259649
104CDK20.58892542
105CSNK1G30.58560489
106TYK20.58435276
107TAOK30.58036017
108SYK0.57734977
109EIF2AK20.57101527
110MARK30.56442550
111CSNK1G10.56199081
112BCKDK0.55079317
113CSNK2A20.54955887
114BLK0.54676142
115EPHA30.54481452
116PHKG20.53613183
117PHKG10.53613183
118MAP2K30.53210094
119MAPK150.53177028
120PRKD20.52796412
121IRAK10.52120732
122PRKACA0.51731618
123PIK3CG0.51282239
124PKN20.51087892
125CAMK2A0.50613993
126CDK10.50557278
127MAP2K10.50498668
128TRPM70.50498001
129MELK0.49255661
130MAP2K40.49116546
131LYN0.48999329
132CSNK1A10.45887864
133TGFBR20.44906282
134MAP3K60.44726132
135CLK10.44299975
136BRD40.44051062
137GRK70.43056931
138SGK20.41777485
139MAPKAPK20.40806460
140CAMK10.40309197
141CDK60.39498756
142KIT0.37939940
143PRKCZ0.37928255
144PRKDC0.37058651
145PASK0.36508539
146PRKCI0.36317720
147PNCK0.36231788
148CSNK1A1L0.36018356
149MUSK0.35723244
150PRKCA0.35489845
151MKNK10.34766452
152PRKAA20.34146642
153DYRK20.33925666
154CDK11A0.33729846
155PAK10.33078199
156MAPK120.32762615
157PRKAA10.30644587
158GRK50.30583272
159MST40.30459775
160JAK30.30170867
161CDK150.29465586
162ERBB20.28991806
163TESK20.26688316
164CSNK1D0.24701180
165CDK180.23605749
166AKT20.22126907
167DAPK10.21224298
168RAF10.20664590
169MOS0.20397716

Predicted pathways (KEGG)

RankGene SetZ-score
1Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008606.64338748
2DNA replication_Homo sapiens_hsa030305.28286051
3Mismatch repair_Homo sapiens_hsa034303.51481736
4Ribosome_Homo sapiens_hsa030103.33816897
5Systemic lupus erythematosus_Homo sapiens_hsa053222.83588092
6Nitrogen metabolism_Homo sapiens_hsa009102.73355727
7Phototransduction_Homo sapiens_hsa047442.71521455
8Cell cycle_Homo sapiens_hsa041102.67154452
9Vitamin B6 metabolism_Homo sapiens_hsa007502.64861544
10Proteasome_Homo sapiens_hsa030502.59572375
11Nucleotide excision repair_Homo sapiens_hsa034202.59226048
12Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.57953126
13Base excision repair_Homo sapiens_hsa034102.53958754
14Pyrimidine metabolism_Homo sapiens_hsa002402.34732792
15Homologous recombination_Homo sapiens_hsa034402.33688586
16Spliceosome_Homo sapiens_hsa030402.31836414
17Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.31235193
18Nicotine addiction_Homo sapiens_hsa050332.22931214
19One carbon pool by folate_Homo sapiens_hsa006702.22402614
20Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.21694863
21RNA polymerase_Homo sapiens_hsa030202.17616569
22Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.05045327
23Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.04353827
24Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005332.00249429
25RNA transport_Homo sapiens_hsa030131.96835186
26Non-homologous end-joining_Homo sapiens_hsa034501.83639018
27Fanconi anemia pathway_Homo sapiens_hsa034601.76391743
28Olfactory transduction_Homo sapiens_hsa047401.71982129
29Parkinsons disease_Homo sapiens_hsa050121.66406325
30Sulfur relay system_Homo sapiens_hsa041221.63202190
31Morphine addiction_Homo sapiens_hsa050321.57801281
32Butanoate metabolism_Homo sapiens_hsa006501.50099015
33Tryptophan metabolism_Homo sapiens_hsa003801.42987773
34RNA degradation_Homo sapiens_hsa030181.42970625
35p53 signaling pathway_Homo sapiens_hsa041151.41945862
36Selenocompound metabolism_Homo sapiens_hsa004501.39944994
37Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.39472706
38Alcoholism_Homo sapiens_hsa050341.37855730
39Taste transduction_Homo sapiens_hsa047421.36442643
40Oxidative phosphorylation_Homo sapiens_hsa001901.36191323
41Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.31727715
42Chemical carcinogenesis_Homo sapiens_hsa052041.25700876
43Folate biosynthesis_Homo sapiens_hsa007901.25364111
44Huntingtons disease_Homo sapiens_hsa050161.24198454
45Basal transcription factors_Homo sapiens_hsa030221.23498890
46Intestinal immune network for IgA production_Homo sapiens_hsa046721.21117584
47Purine metabolism_Homo sapiens_hsa002301.21005759
48Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.20641782
49Steroid hormone biosynthesis_Homo sapiens_hsa001401.16670667
50Primary immunodeficiency_Homo sapiens_hsa053401.16035937
51Cysteine and methionine metabolism_Homo sapiens_hsa002701.14243385
52Primary bile acid biosynthesis_Homo sapiens_hsa001201.11552448
53Protein export_Homo sapiens_hsa030601.10758042
54Retinol metabolism_Homo sapiens_hsa008301.08558263
55Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.07052943
56Serotonergic synapse_Homo sapiens_hsa047261.05029233
57Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.04033415
58Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.03014022
59Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.01093162
60GABAergic synapse_Homo sapiens_hsa047271.00408303
61Glycerolipid metabolism_Homo sapiens_hsa005610.98664510
62Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.97369186
63Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.94849849
64Viral carcinogenesis_Homo sapiens_hsa052030.94716703
65Asthma_Homo sapiens_hsa053100.92693156
66ABC transporters_Homo sapiens_hsa020100.92269869
67Hematopoietic cell lineage_Homo sapiens_hsa046400.91039034
68Glutathione metabolism_Homo sapiens_hsa004800.87979620
69Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.86683978
70Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.86432659
71Pentose phosphate pathway_Homo sapiens_hsa000300.83289179
72Glutamatergic synapse_Homo sapiens_hsa047240.82559095
73Circadian entrainment_Homo sapiens_hsa047130.81389006
74Oocyte meiosis_Homo sapiens_hsa041140.79549450
75mRNA surveillance pathway_Homo sapiens_hsa030150.79041347
76Alzheimers disease_Homo sapiens_hsa050100.78753656
77Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.77837280
78Regulation of autophagy_Homo sapiens_hsa041400.77203481
79Dorso-ventral axis formation_Homo sapiens_hsa043200.76577492
80Insulin secretion_Homo sapiens_hsa049110.76500650
81Herpes simplex infection_Homo sapiens_hsa051680.74815824
82Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.73594116
83Pyruvate metabolism_Homo sapiens_hsa006200.70765317
84Caffeine metabolism_Homo sapiens_hsa002320.68745366
85Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.68223006
86Calcium signaling pathway_Homo sapiens_hsa040200.67797952
87Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.64027862
88Biosynthesis of amino acids_Homo sapiens_hsa012300.63820908
89Drug metabolism - other enzymes_Homo sapiens_hsa009830.62981361
90Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.60837943
91Graft-versus-host disease_Homo sapiens_hsa053320.59494974
92Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.58265536
93Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.57513964
94Malaria_Homo sapiens_hsa051440.57187879
95Metabolic pathways_Homo sapiens_hsa011000.56652519
96Epstein-Barr virus infection_Homo sapiens_hsa051690.56629337
97Bladder cancer_Homo sapiens_hsa052190.55484935
98Platelet activation_Homo sapiens_hsa046110.55236590
99Carbon metabolism_Homo sapiens_hsa012000.54828698
1002-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.54270976
101Vascular smooth muscle contraction_Homo sapiens_hsa042700.53840911
102Salivary secretion_Homo sapiens_hsa049700.53621651
103Ovarian steroidogenesis_Homo sapiens_hsa049130.53461071
104Fatty acid biosynthesis_Homo sapiens_hsa000610.49359841
105Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.46144637
106Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.45402642
107Long-term depression_Homo sapiens_hsa047300.44316187
108Propanoate metabolism_Homo sapiens_hsa006400.44195782
109Melanoma_Homo sapiens_hsa052180.44130520
110Autoimmune thyroid disease_Homo sapiens_hsa053200.42063275
111Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.41884704
112N-Glycan biosynthesis_Homo sapiens_hsa005100.41830117
113African trypanosomiasis_Homo sapiens_hsa051430.41533356
114Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.41452628
115Allograft rejection_Homo sapiens_hsa053300.41142652
116Apoptosis_Homo sapiens_hsa042100.40840596
117Type I diabetes mellitus_Homo sapiens_hsa049400.40609320
118Mineral absorption_Homo sapiens_hsa049780.40594535
119Glycerophospholipid metabolism_Homo sapiens_hsa005640.38537039
120Cholinergic synapse_Homo sapiens_hsa047250.38334317
121Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.38132116
122Type II diabetes mellitus_Homo sapiens_hsa049300.37723887
123Small cell lung cancer_Homo sapiens_hsa052220.37255921
124Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.37001257
125Antigen processing and presentation_Homo sapiens_hsa046120.36887679
126Linoleic acid metabolism_Homo sapiens_hsa005910.34689069
127Jak-STAT signaling pathway_Homo sapiens_hsa046300.34199683
128Cardiac muscle contraction_Homo sapiens_hsa042600.31688122
129Maturity onset diabetes of the young_Homo sapiens_hsa049500.31249115
130alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.28189706
131HTLV-I infection_Homo sapiens_hsa051660.26117422
132Hepatitis B_Homo sapiens_hsa051610.25396042
133Thyroid cancer_Homo sapiens_hsa052160.22522952
134SNARE interactions in vesicular transport_Homo sapiens_hsa041300.21898346
135Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.21060174
136Arginine and proline metabolism_Homo sapiens_hsa003300.18610346
137Fat digestion and absorption_Homo sapiens_hsa049750.17033204
138Non-small cell lung cancer_Homo sapiens_hsa052230.16173563
139Chronic myeloid leukemia_Homo sapiens_hsa052200.15060140
140Fatty acid degradation_Homo sapiens_hsa000710.14537589
141Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.13735767
142Measles_Homo sapiens_hsa051620.13041317
143Arachidonic acid metabolism_Homo sapiens_hsa005900.09805819
144Transcriptional misregulation in cancer_Homo sapiens_hsa052020.08528979
145Cyanoamino acid metabolism_Homo sapiens_hsa004600.08191598
146beta-Alanine metabolism_Homo sapiens_hsa004100.05910519
147Legionellosis_Homo sapiens_hsa051340.05823826
148Peroxisome_Homo sapiens_hsa041460.03652342
149Collecting duct acid secretion_Homo sapiens_hsa049660.03096404
150AMPK signaling pathway_Homo sapiens_hsa041520.02384791
151Lysine degradation_Homo sapiens_hsa00310-0.0700628
152Influenza A_Homo sapiens_hsa05164-0.0681003
153Galactose metabolism_Homo sapiens_hsa00052-0.0485373
154Ether lipid metabolism_Homo sapiens_hsa00565-0.0483681
155MicroRNAs in cancer_Homo sapiens_hsa05206-0.0370965
156Sulfur metabolism_Homo sapiens_hsa00920-0.0352612
157Longevity regulating pathway - multiple species_Homo sapiens_hsa04213-0.0196429

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